Table of Contents<\/p>\nToggle<\/span><\/path><\/svg><\/svg><\/span><\/span><\/label>Introduction<\/a><\/li>What Is Congenital Adrenal Hyperplasia (CAH)?<\/a><\/li>Types of Congenital Adrenal Hyperplasia (CAH)<\/a><\/li>Symptoms of Congenital Adrenal Hyperplasia<\/a><\/li>Causes of Congenital Adrenal Hyperplasia<\/a><\/li>Risk Factors<\/a><\/li>Complications of Congenital Adrenal Hyperplasia<\/a><\/li>Diagnosis of Congenital Adrenal Hyperplasia<\/a><\/li>Treatment for Congenital Adrenal Hyperplasia<\/a><\/li>Prevention Tips for Congenital Adrenal Hyperplasia<\/a><\/li>When to See a\u00a0Doctor?<\/a><\/li>Conclusion<\/a><\/li>Frequently Asked Questions (FAQs)<\/a><\/li>References<\/a><\/li><\/ul><\/nav><\/div>\n \n <\/span>\n \n <\/a>\n<\/span>Introduction<\/strong><\/span><\/h2>\n\n\n\nEvery parent\u00a0wants their child to grow healthier and happier. Attaining the\u00a0expected height\u00a0and\u00a0weight for the\u00a0child\u2019s\u00a0age\u00a0is one of the\u00a0small wins\u00a0during\u00a0any parenting journey, and a\u00a0child showing unusual\u00a0growth\u00a0patterns can become a matter of huge concern.\u00a0Altered growth during childhood\u00a0might point to an underlying medical condition.\u00a0Some rare health conditions like congenital adrenal hyperplasia (CAH) can affect normal development and may require early medical attention. In this article, we will cover what CAH is, its types, symptoms, causes, risk factors, complications, diagnosis,\u00a0treatment\u00a0and preventive tips.\u00a0<\/p>\n\n\n\n<\/p>\n\n\n\n<\/span>What Is Congenital Adrenal Hyperplasia (CAH)?<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia (CAH) is a\u00a0genetic\u00a0condition in which\u00a0the\u00a0adrenal glands are increased in their sizes1<\/a><\/sup>.\u00a0Since\u00a0these\u00a0glands are involved\u00a0in producing\u00a0hormones such as androgens (male sex hormones), cortisol, and aldosterone (a hormone that regulates salt levels in the body),\u00a0the condition leads to an imbalance of these hormones.\u00a0In most of the CAH cases,\u00a0androgens are produced more when compared to the\u00a0levels of the\u00a0other two hormones\u00a0remain\u00a0low. This\u00a0variation in hormones can affect the overall\u00a0health,\u00a0and specifically the\u00a0growth and development of children\u00a0due to\u00a0high levels\u00a0of sex hormones2<\/a><\/sup>.<\/p>\n\n\n\n\nDid You Know?<\/strong>\u00a0<\/p>\n\n\n\n\nAbout 95% of cases of CAH result from the deficiency of the enzyme 21-hydroxylase\u00a0with the second most common cause being the deficiency of the enzyme 11\u03b2-hydroxylase (5-8% of cases)3<\/a>,4<\/a><\/sup>.<\/li>\n\n\n\nClassic variant of CAH can happen in 1 in 15,000 newborns,\u00a0whereas\u00a0non-classic variant can be 1 in 1000 people3<\/a><\/sup>.<\/li>\n\n\n\nIn affected female newborns, the external reproductive organs might not be typical in appearance even though the internal reproductive organs such as the uterus, ovaries and fallopian tubes can be normal5<\/a><\/sup>.<\/li>\n\n\n\nPeople who have classic CAH are\u00a0advised to wear\u00a0a medical alert bracelet or necklace for identification of the condition and to take proper management during emergencies6<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<\/span>Types of Congenital Adrenal Hyperplasia (CAH)<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia\u00a0types\u00a0can\u00a0include\u00a0classic CAH and non-classic CAH7<\/a><\/sup>:\u00a0<\/p>\n\n\n\n1.<\/strong> Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nClassic CAH is considered the rare and serious variant of CAH. Here,\u00a0androgens are\u00a0produced more,\u00a0and the hormones like aldosterone and cortisol are produced less.\u00a0It\u00a0is\u00a0mainly\u00a0seen\u00a0at birth or in\u00a0infancy.\u00a0The classic\u00a0variant\u00a0can again\u00a0be\u00a0subdivided into two based on the severity of the\u00a0congenital adrenal hyperplasia\u00a0symptoms.\u00a0<\/p>\n\n\n\n\nSalt-wasting CAH:\u00a0<\/strong>As the name suggests, salt (sodium) is lost through the urine because of the\u00a0reduced\u00a0production of aldosterone. This is\u00a0the most serious variant,\u00a0which can be life-threatening if left untreated.\u00a0<\/li>\n\n\n\nSimple-virilizing CAH:\u00a0<\/strong>Here, aldosterone is produced adequately,\u00a0so\u00a0sodium levels are balanced. However, cortisol production is decreased,\u00a0and androgen production is increased. This is considered the moderate variant.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/ul>\n\n\n\n2. Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nNon-classic\u00a0is the milder variant among\u00a0congenital adrenal hyperplasia types. Here,\u00a0more androgens are produced, along with sufficient production of aldosterone and cortisol.\u00a0It is often seen\u00a0in the\u00a0late stages of childhood or early adulthood.\u00a0<\/p>\n\n\n\n<\/span>Symptoms of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia symptoms\u00a0can\u00a0be noticed\u00a0at\u00a0or\u00a0a\u00a0few\u00a0days to weeks after birth or later in childhood.\u00a0In any type of CAH, children or adults can\u00a0face2<\/a><\/sup>:<\/p>\n\n\n\n\nRapid growth and achieving puberty early,\u00a0but short height in adulthood\u00a0<\/li>\n\n\n\nAbnormal menstrual cycles\u00a0<\/li>\n\n\n\nInfertility\u00a0<\/li>\n\n\n\nExcess hair growth on the face and body\u00a0<\/li>\n\n\n\nVoice deepening in females.\u00a0<\/li>\n<\/ul><\/div>Show Full Article<\/button><\/div>\n\n\n\nThe symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\nSymptoms in\u00a0Classic\u00a0CAH<\/strong>\u00a0<\/h3>\n\n\n\nThe salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Every parent\u00a0wants their child to grow healthier and happier. Attaining the\u00a0expected height\u00a0and\u00a0weight for the\u00a0child\u2019s\u00a0age\u00a0is one of the\u00a0small wins\u00a0during\u00a0any parenting journey, and a\u00a0child showing unusual\u00a0growth\u00a0patterns can become a matter of huge concern.\u00a0Altered growth during childhood\u00a0might point to an underlying medical condition.\u00a0Some rare health conditions like congenital adrenal hyperplasia (CAH) can affect normal development and may require early medical attention. In this article, we will cover what CAH is, its types, symptoms, causes, risk factors, complications, diagnosis,\u00a0treatment\u00a0and preventive tips.\u00a0<\/p>\n\n\n\n
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Congenital adrenal hyperplasia (CAH) is a\u00a0genetic\u00a0condition in which\u00a0the\u00a0adrenal glands are increased in their sizes1<\/a><\/sup>.\u00a0Since\u00a0these\u00a0glands are involved\u00a0in producing\u00a0hormones such as androgens (male sex hormones), cortisol, and aldosterone (a hormone that regulates salt levels in the body),\u00a0the condition leads to an imbalance of these hormones.\u00a0In most of the CAH cases,\u00a0androgens are produced more when compared to the\u00a0levels of the\u00a0other two hormones\u00a0remain\u00a0low. This\u00a0variation in hormones can affect the overall\u00a0health,\u00a0and specifically the\u00a0growth and development of children\u00a0due to\u00a0high levels\u00a0of sex hormones2<\/a><\/sup>.<\/p>\n\n\n\n\nDid You Know?<\/strong>\u00a0<\/p>\n\n\n\n\nAbout 95% of cases of CAH result from the deficiency of the enzyme 21-hydroxylase\u00a0with the second most common cause being the deficiency of the enzyme 11\u03b2-hydroxylase (5-8% of cases)3<\/a>,4<\/a><\/sup>.<\/li>\n\n\n\nClassic variant of CAH can happen in 1 in 15,000 newborns,\u00a0whereas\u00a0non-classic variant can be 1 in 1000 people3<\/a><\/sup>.<\/li>\n\n\n\nIn affected female newborns, the external reproductive organs might not be typical in appearance even though the internal reproductive organs such as the uterus, ovaries and fallopian tubes can be normal5<\/a><\/sup>.<\/li>\n\n\n\nPeople who have classic CAH are\u00a0advised to wear\u00a0a medical alert bracelet or necklace for identification of the condition and to take proper management during emergencies6<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<\/span>Types of Congenital Adrenal Hyperplasia (CAH)<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia\u00a0types\u00a0can\u00a0include\u00a0classic CAH and non-classic CAH7<\/a><\/sup>:\u00a0<\/p>\n\n\n\n1.<\/strong> Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nClassic CAH is considered the rare and serious variant of CAH. Here,\u00a0androgens are\u00a0produced more,\u00a0and the hormones like aldosterone and cortisol are produced less.\u00a0It\u00a0is\u00a0mainly\u00a0seen\u00a0at birth or in\u00a0infancy.\u00a0The classic\u00a0variant\u00a0can again\u00a0be\u00a0subdivided into two based on the severity of the\u00a0congenital adrenal hyperplasia\u00a0symptoms.\u00a0<\/p>\n\n\n\n\nSalt-wasting CAH:\u00a0<\/strong>As the name suggests, salt (sodium) is lost through the urine because of the\u00a0reduced\u00a0production of aldosterone. This is\u00a0the most serious variant,\u00a0which can be life-threatening if left untreated.\u00a0<\/li>\n\n\n\nSimple-virilizing CAH:\u00a0<\/strong>Here, aldosterone is produced adequately,\u00a0so\u00a0sodium levels are balanced. However, cortisol production is decreased,\u00a0and androgen production is increased. This is considered the moderate variant.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/ul>\n\n\n\n2. Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nNon-classic\u00a0is the milder variant among\u00a0congenital adrenal hyperplasia types. Here,\u00a0more androgens are produced, along with sufficient production of aldosterone and cortisol.\u00a0It is often seen\u00a0in the\u00a0late stages of childhood or early adulthood.\u00a0<\/p>\n\n\n\n<\/span>Symptoms of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia symptoms\u00a0can\u00a0be noticed\u00a0at\u00a0or\u00a0a\u00a0few\u00a0days to weeks after birth or later in childhood.\u00a0In any type of CAH, children or adults can\u00a0face2<\/a><\/sup>:<\/p>\n\n\n\n\nRapid growth and achieving puberty early,\u00a0but short height in adulthood\u00a0<\/li>\n\n\n\nAbnormal menstrual cycles\u00a0<\/li>\n\n\n\nInfertility\u00a0<\/li>\n\n\n\nExcess hair growth on the face and body\u00a0<\/li>\n\n\n\nVoice deepening in females.\u00a0<\/li>\n<\/ul><\/div>Show Full Article<\/button><\/div>\n\n\n\nThe symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\nSymptoms in\u00a0Classic\u00a0CAH<\/strong>\u00a0<\/h3>\n\n\n\nThe salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Did You Know?<\/strong>\u00a0<\/p>\n\n\n\n\nAbout 95% of cases of CAH result from the deficiency of the enzyme 21-hydroxylase\u00a0with the second most common cause being the deficiency of the enzyme 11\u03b2-hydroxylase (5-8% of cases)3<\/a>,4<\/a><\/sup>.<\/li>\n\n\n\nClassic variant of CAH can happen in 1 in 15,000 newborns,\u00a0whereas\u00a0non-classic variant can be 1 in 1000 people3<\/a><\/sup>.<\/li>\n\n\n\nIn affected female newborns, the external reproductive organs might not be typical in appearance even though the internal reproductive organs such as the uterus, ovaries and fallopian tubes can be normal5<\/a><\/sup>.<\/li>\n\n\n\nPeople who have classic CAH are\u00a0advised to wear\u00a0a medical alert bracelet or necklace for identification of the condition and to take proper management during emergencies6<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<\/span>Types of Congenital Adrenal Hyperplasia (CAH)<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia\u00a0types\u00a0can\u00a0include\u00a0classic CAH and non-classic CAH7<\/a><\/sup>:\u00a0<\/p>\n\n\n\n1.<\/strong> Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nClassic CAH is considered the rare and serious variant of CAH. Here,\u00a0androgens are\u00a0produced more,\u00a0and the hormones like aldosterone and cortisol are produced less.\u00a0It\u00a0is\u00a0mainly\u00a0seen\u00a0at birth or in\u00a0infancy.\u00a0The classic\u00a0variant\u00a0can again\u00a0be\u00a0subdivided into two based on the severity of the\u00a0congenital adrenal hyperplasia\u00a0symptoms.\u00a0<\/p>\n\n\n\n\nSalt-wasting CAH:\u00a0<\/strong>As the name suggests, salt (sodium) is lost through the urine because of the\u00a0reduced\u00a0production of aldosterone. This is\u00a0the most serious variant,\u00a0which can be life-threatening if left untreated.\u00a0<\/li>\n\n\n\nSimple-virilizing CAH:\u00a0<\/strong>Here, aldosterone is produced adequately,\u00a0so\u00a0sodium levels are balanced. However, cortisol production is decreased,\u00a0and androgen production is increased. This is considered the moderate variant.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/ul>\n\n\n\n2. Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nNon-classic\u00a0is the milder variant among\u00a0congenital adrenal hyperplasia types. Here,\u00a0more androgens are produced, along with sufficient production of aldosterone and cortisol.\u00a0It is often seen\u00a0in the\u00a0late stages of childhood or early adulthood.\u00a0<\/p>\n\n\n\n<\/span>Symptoms of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia symptoms\u00a0can\u00a0be noticed\u00a0at\u00a0or\u00a0a\u00a0few\u00a0days to weeks after birth or later in childhood.\u00a0In any type of CAH, children or adults can\u00a0face2<\/a><\/sup>:<\/p>\n\n\n\n\nRapid growth and achieving puberty early,\u00a0but short height in adulthood\u00a0<\/li>\n\n\n\nAbnormal menstrual cycles\u00a0<\/li>\n\n\n\nInfertility\u00a0<\/li>\n\n\n\nExcess hair growth on the face and body\u00a0<\/li>\n\n\n\nVoice deepening in females.\u00a0<\/li>\n<\/ul><\/div>Show Full Article<\/button><\/div>\n\n\n\nThe symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\nSymptoms in\u00a0Classic\u00a0CAH<\/strong>\u00a0<\/h3>\n\n\n\nThe salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Congenital adrenal hyperplasia\u00a0types\u00a0can\u00a0include\u00a0classic CAH and non-classic CAH7<\/a><\/sup>:\u00a0<\/p>\n\n\n\n1.<\/strong> Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nClassic CAH is considered the rare and serious variant of CAH. Here,\u00a0androgens are\u00a0produced more,\u00a0and the hormones like aldosterone and cortisol are produced less.\u00a0It\u00a0is\u00a0mainly\u00a0seen\u00a0at birth or in\u00a0infancy.\u00a0The classic\u00a0variant\u00a0can again\u00a0be\u00a0subdivided into two based on the severity of the\u00a0congenital adrenal hyperplasia\u00a0symptoms.\u00a0<\/p>\n\n\n\n\nSalt-wasting CAH:\u00a0<\/strong>As the name suggests, salt (sodium) is lost through the urine because of the\u00a0reduced\u00a0production of aldosterone. This is\u00a0the most serious variant,\u00a0which can be life-threatening if left untreated.\u00a0<\/li>\n\n\n\nSimple-virilizing CAH:\u00a0<\/strong>Here, aldosterone is produced adequately,\u00a0so\u00a0sodium levels are balanced. However, cortisol production is decreased,\u00a0and androgen production is increased. This is considered the moderate variant.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/ul>\n\n\n\n2. Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nNon-classic\u00a0is the milder variant among\u00a0congenital adrenal hyperplasia types. Here,\u00a0more androgens are produced, along with sufficient production of aldosterone and cortisol.\u00a0It is often seen\u00a0in the\u00a0late stages of childhood or early adulthood.\u00a0<\/p>\n\n\n\n<\/span>Symptoms of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia symptoms\u00a0can\u00a0be noticed\u00a0at\u00a0or\u00a0a\u00a0few\u00a0days to weeks after birth or later in childhood.\u00a0In any type of CAH, children or adults can\u00a0face2<\/a><\/sup>:<\/p>\n\n\n\n\nRapid growth and achieving puberty early,\u00a0but short height in adulthood\u00a0<\/li>\n\n\n\nAbnormal menstrual cycles\u00a0<\/li>\n\n\n\nInfertility\u00a0<\/li>\n\n\n\nExcess hair growth on the face and body\u00a0<\/li>\n\n\n\nVoice deepening in females.\u00a0<\/li>\n<\/ul><\/div>Show Full Article<\/button><\/div>\n\n\n\nThe symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\nSymptoms in\u00a0Classic\u00a0CAH<\/strong>\u00a0<\/h3>\n\n\n\nThe salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Classic CAH is considered the rare and serious variant of CAH. Here,\u00a0androgens are\u00a0produced more,\u00a0and the hormones like aldosterone and cortisol are produced less.\u00a0It\u00a0is\u00a0mainly\u00a0seen\u00a0at birth or in\u00a0infancy.\u00a0The classic\u00a0variant\u00a0can again\u00a0be\u00a0subdivided into two based on the severity of the\u00a0congenital adrenal hyperplasia\u00a0symptoms.\u00a0<\/p>\n\n\n\n
Non-classic\u00a0is the milder variant among\u00a0congenital adrenal hyperplasia types. Here,\u00a0more androgens are produced, along with sufficient production of aldosterone and cortisol.\u00a0It is often seen\u00a0in the\u00a0late stages of childhood or early adulthood.\u00a0<\/p>\n\n\n\n
Congenital adrenal hyperplasia symptoms\u00a0can\u00a0be noticed\u00a0at\u00a0or\u00a0a\u00a0few\u00a0days to weeks after birth or later in childhood.\u00a0In any type of CAH, children or adults can\u00a0face2<\/a><\/sup>:<\/p>\n\n\n\n\nRapid growth and achieving puberty early,\u00a0but short height in adulthood\u00a0<\/li>\n\n\n\nAbnormal menstrual cycles\u00a0<\/li>\n\n\n\nInfertility\u00a0<\/li>\n\n\n\nExcess hair growth on the face and body\u00a0<\/li>\n\n\n\nVoice deepening in females.\u00a0<\/li>\n<\/ul><\/div>Show Full Article<\/button><\/div>\n\n\n\nThe symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\nSymptoms in\u00a0Classic\u00a0CAH<\/strong>\u00a0<\/h3>\n\n\n\nThe salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
The symptoms can vary based on the type and severity of CAH.\u00a0Congenital adrenal hyperplasia\u00a0symptoms\u00a0of\u00a0the\u00a0classic\u00a0variant\u00a0can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH.\u00a0<\/p>\n\n\n\n
The salt-wasting type can be a medical emergency in some cases.\u00a0Since too much sodium\u00a0is lost through urine, symptoms\u00a0such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools<\/a><\/strong> or vomiting<\/strong><\/a>\u00a0can appear within days or weeks of birth7<\/a>,8<\/a><\/sup>. Symptoms related to increased androgens and reduced cortisol\u00a0include8<\/a><\/sup>:<\/p>\n\n\n\n\nAmbiguous (not typical)\u00a0sex organs in female newborns\u00a0<\/li>\n\n\n\nEnlarged sex organs in male\u00a0newborn\u00a0babies\u00a0<\/li>\n\n\n\nExaggerated male physical features (virilisation) can be seen both in boys\u00a0and\u00a0girls. These characteristics can include rapid growth,\u00a0presence of\u00a0hair in\u00a0pubic\u00a0areas and\u00a0armpits, excess facial hair growth in females;\u00a0enlarged penis and early beard in males.\u00a0<\/li>\n<\/ul>\n\n\n\nSymptoms of Non-Classic CAH<\/strong>\u00a0<\/h3>\n\n\n\nMost\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Most\u00a0congenital adrenal hyperplasia symptoms\u00a0seen in\u00a0the\u00a0non-classic\u00a0variant\u00a0are\u00a0linked with increased androgens.\u00a0In some people, symptoms might be mild,\u00a0and\u00a0the\u00a0presence of the condition might not be recognised.\u00a0The symptoms\u00a0can include7<\/a>,8<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIn childhood and early teenage years,\u00a0rapid growth is seen;\u00a0however, reduced height\u00a0compared to\u00a0expected is seen in adulthood.\u00a0<\/li>\n\n\n\nEarly physical changes of puberty\u00a0<\/li>\n\n\n\nInfertility in both males and females\u00a0<\/li>\n\n\n\nAbnormal\u00a0menstruation,\u00a0increased hair on face and body and severe acne\u00a0<\/li>\n\n\n\nEnlarged penis, small\u00a0testicles\u00a0and well-developed muscles.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Causes of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCertain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Certain enzymes are needed for the adequate production of cortisol<\/strong><\/a>,\u00a0aldosterone\u00a0and androgens.\u00a0Genetic mutations leading to abnormal functioning\/deficiencies\u00a0of these\u00a0enzymes\u00a0can impair the functioning of\u00a0the\u00a0adrenal gland in hormone production7<\/a>,9<\/a><\/sup>.\u00a0\u00a0The\u00a0commonly involved\u00a0enzymes\u00a0are9<\/a><\/sup>:<\/p>\n\n\n\n\n21-hydroxylase deficiency (21-OHD):\u00a0Most common enzyme deficiency that\u00a0contributes\u00a0to the improper functioning of\u00a0the\u00a0adrenal gland, deficiency of which results\u00a0in classic and non-classic\u00a0variants.\u00a0<\/li>\n\n\n\nThere are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely.\u00a0<\/li>\n<\/ul>\n\n\n\nIn cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
In cases of 21-OH enzyme deficiency,\u00a0the\u00a0normal mechanism of cortisol production is impaired. As a result,\u00a0a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used\u00a0for the production of\u00a0more androgens, leading to the symptoms of CAH10<\/a><\/sup>.\u00a0<\/p>\n\n\n\n<\/span>Risk Factors<\/strong><\/span><\/h2>\n\n\n\nCAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
CAH is an autosomal recessive condition, which means when babies get two nonworking genes from their parents, this condition can result. Risk factors of getting this condition include9<\/a><\/sup>:\u00a0<\/p>\n\n\n\n\nIf\u00a0a\u00a0parent\u00a0has CAH\u00a0genes,\u00a0there is a significant chance of them passing it onto the child.\u00a0<\/li>\n\n\n\nIf\u00a0both\u00a0the parents are carriers\u00a0(people with one working copy of the gene and one nonworking copy of the gene\u00a0but they\u00a0themselves\u00a0don\u2019t\u00a0have the disease),\u00a0they can pass\u00a0the\u00a0nonworking genes to their babies, causing them to inherit this condition.\u00a0<\/li>\n\n\n\nIf parents\u00a0already have a child with CAH, there is a 1 in 4 chance\u00a0of\u00a0getting the same for future children also.\u00a0<\/li>\n<\/ul>\n\n\n\n<\/span>Complications of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nComplications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n\nAdrenal crisis<\/strong>: It can happen\u00a0to\u00a0people of any age. When under any physical\u00a0stress\u00a0or injuries body needs more adrenal hormones than the usual requirement2<\/a>,8<\/a><\/sup>. Symptoms can include fatigue, vomiting, low blood\u00a0sugar\u00a0and\u00a0low blood\u00a0pressure. However, early\u00a0congenital adrenal hyperplasia\u00a0treatment\u00a0can prevent\u00a0adrenal crisis from occurring\u00a0if you are at an increased risk2<\/a><\/sup>.<\/li>\n\n\n\nInfertility:<\/strong>\u00a0Infertility can affect both males and females.\u00a0Infertility due to\u00a0congenital adrenal hyperplasia\u00a0in\u00a0females\u00a0results from\u00a0no ovum release (anovulation), polycystic ovarian syndrome (PCOS)<\/strong><\/a>, abnormal\u00a0menstruation\u00a0and increased progesterone levels. In males, fertility can be reduced due to low sperm count\u00a0and low\u00a0testosterone4<\/a><\/sup>.\u00a0<\/li>\n\n\n\nComplications related to treatment:<\/strong>\u00a0Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures11<\/a><\/sup>.\u00a0<\/li>\n<\/ul>\n\n\n\nAlso Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Complications of CAH depend\u00a0on\u00a0the type\u00a0and\u00a0severity affected, which include:\u00a0<\/p>\n\n\n\n
Also Read: Female Infertility: Causes, Symptoms, Treatment and More<\/a><\/em><\/strong>\u00a0<\/p>\n\n\n\n<\/span>Diagnosis of Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Congenital adrenal hyperplasia diagnosis\u00a0can range from physical evaluation of ambiguous sex organs, hormonal\u00a0assessment\u00a0and gene evaluations, which\u00a0include4<\/a><\/sup>:<\/p>\n\n\n\n\nPhysical examination of sex organs:<\/strong>\u00a0If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment\u00a0as\u00a0early as possible.\u00a0<\/li>\n\n\n\nHormonal evaluation:<\/strong>\u00a0In a random blood sample, if a hormone named 17-hydroxyprogesterone\u00a0(17-OHP)\u00a0is high, it\u00a0is considered to be\u00a0diagnostic of classic\u00a0CAH4<\/a><\/sup>.\u00a0In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and\u00a011\u03b2-hydroxylase. When these are deficient, the hormone 17-OHP is increased12<\/a><\/sup>.\u00a0This\u00a017-OHP test<\/strong><\/a>\u00a0is considered the basis of\u00a0the\u00a0newborn screening program, in which it\u00a0helps\u00a0in\u00a0the\u00a0diagnosis of classical CAH before the onset of adrenal crisis.\u00a0<\/li>\n\n\n\nCorticotropin stimulation test:<\/strong>\u00a0This is considered the gold standard in hormonal evaluation\u00a0in\u00a0congenital adrenal hyperplasia diagnosis.\u00a0Corticotropin\u00a0is the hormone which stimulate adrenal gland to produce cortisol and androgens.\u00a0A synthetic corticotropin is injected and\u00a0the levels of hormones such as 17-OHP and androstenedione<\/a><\/strong> (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease4<\/a><\/sup>.<\/li>\n\n\n\nGenetic analysis<\/strong>:\u00a0Since\u00a0the\u00a0CYP21A2\u00a0gene\u00a0is involved in CAH, sequencing of this gene\u00a0is a part of\u00a0congenital adrenal hyperplasia diagnosis, which\u00a0helps\u00a0in assessing the severity\u00a0and\u00a0finding\u00a0any mutations (changes\u00a0in genes). This test can be used as a second-line screening test in newborns4<\/a><\/sup>.<\/li>\n\n\n\nPrenatal testing:<\/strong>\u00a0During pregnancy,\u00a0the baby\u2019s\u00a0DNA is evaluated by taking a blood sample from\u00a0the\u00a0mother, without affecting the\u00a0foetus. It can detect\u00a0the\u00a0presence of CAH as early as 5 weeks and 6 days of gestation4<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\n<\/span>Treatment for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nCongenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n\nHormone replacement therapies:<\/strong>\u00a0To replace the deficiencies of cortisol,\u00a0steroid replacement such as hydrocortisone<\/a><\/strong> in\u00a0infants and children\u00a0and\u00a0hydrocortisone, prednisone<\/a><\/strong>, or dexamethasone<\/a><\/strong>\u00a0in adults, may be recommended. In\u00a0the\u00a0classic\u00a0variant,\u00a0fludrocortisone<\/a><\/strong> is recommended\u00a0to replace aldosterone\u00a0as part of\u00a0congenital adrenal hyperplasia treatment.\u00a0In these patients, a daily intake is needed for\u00a0the\u00a0rest of the life. However, under any physical\u00a0stress, the body needs more cortisol, so\u00a0they\u00a0might need to take more medicines under a doctor\u2019s supervision.\u00a0Salt supplements are needed to replace the lost salt through urine6<\/a>,7<\/a><\/sup>.\u00a0<\/li>\n\n\n\nMedications:\u00a0<\/strong>In addition to hormone replacements, other medications are given,\u00a0which include\u00a0medications suppressing ACTH\u00a0(a hormone which induces adrenal glands to produce more hormones)\u00a0production,\u00a0receptor-blocking\u00a0medicines and\u00a0medicines\u00a0targeting steroid and androgen function13<\/a><\/sup>.\u00a0\u00a0<\/li>\n\n\n\nCrinecerfort:<\/strong> A\u00a0newer medication approved to be used with steroid replacements to control androgen levels. It\u00a0acts\u00a0by reducing androgen\u00a0production, and\u00a0thereby\u00a0helps\u00a0in limiting the amount of glucocorticoid needed14<\/a><\/sup>.<\/li>\n\n\n\nOral contraceptive pills:<\/strong>\u00a0In non-classic CAH, oral\u00a0contraceptive\u00a0pills are used as a treatment11<\/a><\/sup>.\u00a0They act by reducing androgen levels and thereby improving the\u00a0associated symptoms15<\/a><\/sup>.\u00a0<\/li>\n\n\n\nSurgery:<\/strong>\u00a0In female newborn babies, there\u00a0might\u00a0be\u00a0ambiguous sex organs, which\u00a0might need surgery to improve both appearance and function7<\/a><\/sup>.<\/li>\n<\/ul>\n\n\n\nThese are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n<\/span>Prevention Tips for Congenital Adrenal Hyperplasia<\/strong><\/span><\/h2>\n\n\n\nSince CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n\nGenetic\u00a0Counselling<\/strong>:\u00a0Counsellors\u00a0can help families to learn about this condition and the chance\u00a0of\u00a0having it9<\/a><\/sup>.<\/li>\n\n\n\nPrenatal Dexamethasone\u00a0Treatment:<\/strong>\u00a0It is considered an effective measure to reduce the effects of\u00a0virilisation\u00a0of external\u00a0genitalia\u00a0in females. However, long-term outcomes are needed to prove this16<\/a><\/sup>.\u00a0<\/li>\n\n\n\nPrenatal Screening:\u00a0<\/strong>Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests\u00a0involve\u00a0collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta\u00a0(chorionic villus sampling). The baby\u2019s genetic material can also be evaluated from the mother\u2019s blood. These tests, even before the baby\u2019s birth, can help in proper decision-making by the parents or doctors4<\/a><\/sup>.<\/li>\n\n\n\nEarly Childhood Screening and Treatment:<\/strong>\u00a0Screening for CAH in newborns or in early childhood can help in preventing the serious health problems associated with the condition through early diagnosis and treatment. Usually, a\u00a0blood\u00a0test,\u00a0that is\u00a0the 17 OHP test,\u00a0is done for\u00a0detecting\u00a0CAH\u00a0early in life.\u00a0If the test is positive,\u00a0additional\u00a0blood or genetic tests may be recommended
Congenital adrenal hyperplasia treatment\u00a0targets\u00a0replacing the deficient hormones, reducing androgen\u00a0production\u00a0and\u00a0alleviating\u00a0the symptoms. It can include hormone replacement therapies,\u00a0medications,\u00a0and surgery.\u00a0<\/p>\n\n\n\n
These are the available\u00a0congenital adrenal hyperplasia treatment\u00a0modalities. However,\u00a0exact medicines and doses should only be followed under medical supervision.\u00a0<\/p>\n\n\n\n
Since CAH is\u00a0a\u00a0congenital condition, exact preventive measures are not available. However,\u00a0several measures can reduce the risk of having\u00a0an\u00a0affected child\u00a0or ensure\u00a0early diagnosis\u00a0in affected infants.\u00a0<\/p>\n\n\n\n