Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes, Diagnosis, And More 

Introduction

Every parent wants their child to grow healthier and happier. Attaining the expected height and weight for the child’s age is one of the small wins during any parenting journey, and a child showing unusual growth patterns can become a matter of huge concern. Altered growth during childhood might point to an underlying medical condition. Some 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, treatment and preventive tips. 

What Is Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia (CAH) is a genetic condition in which the adrenal glands are increased in their sizes¹. Since these glands are involved in producing hormones such as androgens (male sex hormones), cortisol, and aldosterone (a hormone that regulates salt levels in the body), the condition leads to an imbalance of these hormones. In most of the CAH cases, androgens are produced more when compared to the levels of the other two hormones remain low. This variation in hormones can affect the overall health, and specifically the growth and development of children due to high levels of sex hormones².

Types of Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia types can include classic CAH and non-classic CAH⁷: 

1. Classic CAH 

Classic CAH is considered the rare and serious variant of CAH. Here, androgens are produced more, and the hormones like aldosterone and cortisol are produced less. It is mainly seen at birth or in infancy. The classic variant can again be subdivided into two based on the severity of the congenital adrenal hyperplasia symptoms. 

• Salt-wasting CAH: As the name suggests, salt (sodium) is lost through the urine because of the reduced production of aldosterone. This is the most serious variant, which can be life-threatening if left untreated. 
• Simple-virilizing CAH: Here, aldosterone is produced adequately, so sodium levels are balanced. However, cortisol production is decreased, and androgen production is increased. This is considered the moderate variant. 

2. Non-Classic CAH 

Non-classic is the milder variant among congenital adrenal hyperplasia types. Here, more androgens are produced, along with sufficient production of aldosterone and cortisol. It is often seen in the late stages of childhood or early adulthood. 

Symptoms of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia symptoms can be noticed at or a few days to weeks after birth or later in childhood. In any type of CAH, children or adults can face²:

• Rapid growth and achieving puberty early, but short height in adulthood 
• Abnormal menstrual cycles 
• Infertility 
• Excess hair growth on the face and body 
• Voice deepening in females. 

The symptoms can vary based on the type and severity of CAH. Congenital adrenal hyperplasia symptoms of the classic variant can again be subdivided into symptoms in salt-wasting CAH and in simple virilizing (non-salt-wasting) CAH. 

Symptoms in Classic CAH 

The salt-wasting type can be a medical emergency in some cases. Since too much sodium is lost through urine, symptoms such as a drop in blood pressure, reduced blood glucose, weight loss, difficulty feeding, loose stools or vomiting can appear within days or weeks of birth^7,8. Symptoms related to increased androgens and reduced cortisol include⁸:

• Ambiguous (not typical) sex organs in female newborns 
• Enlarged sex organs in male newborn babies 
• Exaggerated male physical features (virilisation) can be seen both in boys and girls. These characteristics can include rapid growth, presence of hair in pubic areas and armpits, excess facial hair growth in females; enlarged penis and early beard in males. 

Symptoms of Non-Classic CAH 

Most congenital adrenal hyperplasia symptoms seen in the non-classic variant are linked with increased androgens. In some people, symptoms might be mild, and the presence of the condition might not be recognised. The symptoms can include^7,8: 

• In childhood and early teenage years, rapid growth is seen; however, reduced height compared to expected is seen in adulthood. 
• Early physical changes of puberty 
• Infertility in both males and females 
• Abnormal menstruation, increased hair on face and body and severe acne 
• Enlarged penis, small testicles and well-developed muscles. 

Causes of Congenital Adrenal Hyperplasia

Certain enzymes are needed for the adequate production of cortisol, aldosterone and androgens. Genetic mutations leading to abnormal functioning/deficiencies of these enzymes can impair the functioning of the adrenal gland in hormone production^7,9.  The commonly involved enzymes are⁹:

• 21-hydroxylase deficiency (21-OHD): Most common enzyme deficiency that contributes to the improper functioning of the adrenal gland, deficiency of which results in classic and non-classic variants. 
• There are some other forms of CAH due to some other enzyme deficiencies; however, these are seen rarely. 

In cases of 21-OH enzyme deficiency, the normal mechanism of cortisol production is impaired. As a result, a substance named 17-OHP (17-hydroxy progesterone), which is considered the precursor of cortisol, is increased. This accumulated 17-OHP is used for the production of more androgens, leading to the symptoms of CAH¹⁰. 

Risk Factors

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: 

• If a parent has CAH genes, there is a significant chance of them passing it onto the child. 
• If both the parents are carriers (people with one working copy of the gene and one nonworking copy of the gene but they themselves don’t have the disease), they can pass the nonworking genes to their babies, causing them to inherit this condition. 
• If parents already have a child with CAH, there is a 1 in 4 chance of getting the same for future children also. 

Complications of Congenital Adrenal Hyperplasia

Complications of CAH depend on the type and severity affected, which include: 

• Adrenal crisis: It can happen to people of any age. When under any physical stress or injuries body needs more adrenal hormones than the usual requirement^2,8. Symptoms can include fatigue, vomiting, low blood sugar and low blood pressure. However, early congenital adrenal hyperplasia treatment can prevent adrenal crisis from occurring if you are at an increased risk².
• Infertility: Infertility can affect both males and females. Infertility due to congenital adrenal hyperplasia in females results from no ovum release (anovulation), polycystic ovarian syndrome (PCOS), abnormal menstruation and increased progesterone levels. In males, fertility can be reduced due to low sperm count and low testosterone⁴. 
• Complications related to treatment: Long-term treatment with glucocorticoids might lead to complications including obesity, increased blood pressure, thinning of bones (osteoporosis) and more prone to fractures¹¹. 

Also Read: Female Infertility: Causes, Symptoms, Treatment and More 

Diagnosis of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia diagnosis can range from physical evaluation of ambiguous sex organs, hormonal assessment and gene evaluations, which include⁴:

• Physical examination of sex organs: If newborn babies are found with ambiguous sex organs, a need to reach a quick diagnosis is mandatory to start the treatment as early as possible. 
• Hormonal evaluation: In a random blood sample, if a hormone named 17-hydroxyprogesterone (17-OHP) is high, it is considered to be diagnostic of classic CAH⁴. In almost 95% of CAH cases, the deficient enzymes are 21-hydroxylase and 11β-hydroxylase. When these are deficient, the hormone 17-OHP is increased¹². This 17-OHP test is considered the basis of the newborn screening program, in which it helps in the diagnosis of classical CAH before the onset of adrenal crisis. 
• Corticotropin stimulation test: This is considered the gold standard in hormonal evaluation in congenital adrenal hyperplasia diagnosis. Corticotropin is the hormone which stimulate adrenal gland to produce cortisol and androgens. A synthetic corticotropin is injected and the levels of hormones such as 17-OHP and androstenedione (an androgen precursor) are measured after 60 minutes and plotted to find the severity of the disease⁴.
• Genetic analysis: Since the CYP21A2 gene is involved in CAH, sequencing of this gene is a part of congenital adrenal hyperplasia diagnosis, which helps in assessing the severity and finding any mutations (changes in genes). This test can be used as a second-line screening test in newborns⁴.
• Prenatal testing: During pregnancy, the baby’s DNA is evaluated by taking a blood sample from the mother, without affecting the foetus. It can detect the presence of CAH as early as 5 weeks and 6 days of gestation⁴.

Treatment for Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia treatment targets replacing the deficient hormones, reducing androgen production and alleviating the symptoms. It can include hormone replacement therapies, medications, and surgery. 

• Hormone replacement therapies: To replace the deficiencies of cortisol, steroid replacement such as hydrocortisone in infants and children and hydrocortisone, prednisone, or dexamethasone in adults, may be recommended. In the classic variant, fludrocortisone is recommended to replace aldosterone as part of congenital adrenal hyperplasia treatment. In these patients, a daily intake is needed for the rest of the life. However, under any physical stress, the body needs more cortisol, so they might need to take more medicines under a doctor’s supervision. Salt supplements are needed to replace the lost salt through urine^6,7. 
• Medications: In addition to hormone replacements, other medications are given, which include medications suppressing ACTH (a hormone which induces adrenal glands to produce more hormones) production, receptor-blocking medicines and medicines targeting steroid and androgen function¹³.  
• Crinecerfort: A newer medication approved to be used with steroid replacements to control androgen levels. It acts by reducing androgen production, and thereby helps in limiting the amount of glucocorticoid needed¹⁴.
• Oral contraceptive pills: In non-classic CAH, oral contraceptive pills are used as a treatment¹¹. They act by reducing androgen levels and thereby improving the associated symptoms¹⁵. 
• Surgery: In female newborn babies, there might be ambiguous sex organs, which might need surgery to improve both appearance and function⁷.

These are the available congenital adrenal hyperplasia treatment modalities. However, exact medicines and doses should only be followed under medical supervision. 

Prevention Tips for Congenital Adrenal Hyperplasia

Since CAH is a congenital condition, exact preventive measures are not available. However, several measures can reduce the risk of having an affected child or ensure early diagnosis in affected infants. 

• Genetic Counselling: Counsellors can help families to learn about this condition and the chance of having it⁹.
• Prenatal Dexamethasone Treatment: It is considered an effective measure to reduce the effects of virilisation of external genitalia in females. However, long-term outcomes are needed to prove this¹⁶. 
• Prenatal Screening: Testing for CAH when the mother is pregnant is called prenatal screening. Earlier tests involve collecting fluid surrounding the baby (amniocentesis) and taking a small sample from the placenta (chorionic villus sampling). The baby’s genetic material can also be evaluated from the mother’s blood. These tests, even before the baby’s birth, can help in proper decision-making by the parents or doctors⁴.
• Early Childhood Screening and Treatment: Screening 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 blood test, that is the 17 OHP test, is done for detecting CAH early in life. If the test is positive, additional blood or genetic tests may be recommended⁹.

When to See a Doctor?

• In female newborn babies, the presence of ambiguous genitalia immediately needs to be screened further for a proper diagnosis, because congenital adrenal hyperplasia in female newborn babies is often manifested as this presentation. 
• In children or adults, rapid growth and achieving puberty early, but short height in adulthood might be indicative of CAH and need medical attention. 
• If affected people are showing symptoms of adrenal crisis such as fatigue, vomiting, dehydration, immediate medical support is needed. 
• In affected individuals planning pregnancy, consulting a doctor can help understand the chances of getting the condition in the baby and possible management options.  

Also Read: Congenital Rubella Syndrome: Symptoms, Causes, Diagnosis, Treatment & Prevention 

Conclusion

CAH is a rare genetic condition that is caused by irregularities in the production of hormones by the adrenal glands. It can affect a child’s growth and development, along with some changes in the reproductive system. However, an early medical diagnosis can help in initiating congenital adrenal hyperplasia treatment at an early stage, thereby reducing the severity of the condition.  

Frequently Asked Questions (FAQs)

References

1. Congenital Adrenal Hyperplasia (CAH) | Texas DSHS. Accessed July 28, 2026. https://www.dshs.texas.gov/newborn-screening-program/newborn-screening-parent-resources/congenital-adrenal-hyperplasia-cah 

2. Australia H. Congenital adrenal hyperplasia. September 26, 2024. Accessed July 28, 2026. https://www.healthdirect.gov.au/congenital-adrenal-hyperplasia 

3. 21-hydroxylase deficiency: MedlinePlus Genetics. Accessed August 2, 2026. https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/ 

4. Yau M, Gujral J, New MI. Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment. In: Feingold KR, Adler RA, Ahmed SF, et al., eds. Endotext. MDText.com, Inc.; 2000. Accessed July 29, 2026. http://www.ncbi.nlm.nih.gov/books/NBK279085/ 

5. What are the symptoms of congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development. May 17, 2021. Accessed July 29, 2026. https://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms 

6. What are the treatments for congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development. February 13, 2024. Accessed July 29, 2026. https://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments 

7. Congenital adrenal hyperplasia: MedlinePlus Medical Encyclopedia. Accessed July 28, 2026. https://medlineplus.gov/ency/article/000411.htm 

8. What are the symptoms of congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development. May 17, 2021. Accessed July 29, 2026. https://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms 

9. Congenital Adrenal Hyperplasia | Newborn Screening. Accessed July 28, 2026. https://newbornscreening.hrsa.gov/conditions/congenital-adrenal-hyperplasia 

10. 17-Hydroxyprogesterone: MedlinePlus Medical Test. Accessed August 2, 2026. https://medlineplus.gov/lab-tests/17-hydroxyprogesterone/ 

11. Nordenström A, Falhammar H. MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. Eur J Endocrinol. 2019;180(3):R127-R145. doi:10.1530/EJE-18-0712 https://pubmed.ncbi.nlm.nih.gov/30566904/

12. Congenital Adrenal Hyperplasia (CAH). Accessed July 29, 2026. https://dhhr.wv.gov/ols/labs/Pages/CAH.aspx 

13. Schröder MAM, Claahsen – van der Grinten HL. Novel treatments for congenital adrenal hyperplasia. Rev Endocr Metab Disord. 2022;23(3):631-645. doi:10.1007/s11154-022-09717-w https://pubmed.ncbi.nlm.nih.gov/35199280/

14. Commissioner O of the. FDA Approves New Treatment for Congenital Adrenal Hyperplasia. FDA. December 19, 2024. Accessed July 29, 2026. https://www.fda.gov/news-events/press-announcements/fda-approves-new-treatment-congenital-adrenal-hyperplasia 

15. Kouri C, Costa FC, De MMC, et al. Oral Contraceptives: A Key to reducing androgen levels in women with classic CAH. Endocr Abstr. 2025;110. doi:10.1530/endoabs.110.P113 https://www.endocrine-abstracts.org/ea/0110/ea0110p113

16. Kim MS, Ryabets-Lienhard A, Geffner ME. Management of Congenital Adrenal Hyperplasia in Childhood. Curr Opin Endocrinol Diabetes Obes. 2012;19(6):483-488. doi:10.1097/MED.0b013e32835a1a1b https://pubmed.ncbi.nlm.nih.gov/23037928/

17. Pellegrini B, Bonaventura I, Hasenmajer V, et al. Adrenal causes of endocrine hypertension in childhood or adolescence. J Endocrinol Invest. 2025;48(11):2515-2545. doi:10.1007/s40618-025-02633-1 https://pmc.ncbi.nlm.nih.gov/articles/PMC12602608/

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