Understanding Congenital Adrenal Hyperplasia: Symptoms & Causes

Written by Medicover Team and Medically Reviewed by Dr Girija Kalyani Pappala , Endocrinologists

Congenital adrenal hyperplasia is a genetic condition characterized by a deficiency in one of the enzymes needed for the synthesis of cortisol and aldosterone. The most common enzyme deficiency involves 21-hydroxylase, which accounts for approximately 95% of CAH cases. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disorder.

What are the Types of Congenital Adrenal Hyperplasia?

Classic CAH

Classic CAH is the more severe form and can be further classified into two subtypes: salt-wasting and simple-virilizing. Both types usually present symptoms in infancy or early childhood.

Salt-Wasting CAH

Salt-wasting CAH is the most severe form and is characterized by a significant deficiency in both cortisol and aldosterone production. This can lead to a life-threatening condition known as a salt-wasting crisis, which involves severe dehydration, electrolyte imbalances, and low blood pressure.

Simple-Virilizing CAH

Simple-virilizing CAH also involves a deficiency in cortisol but has a lesser impact on aldosterone production. This subtype primarily affects the production of androgens, leading to virilization, or the development of male physical characteristics, in both females and males.

Non-Classic CAH

Non-classic CAH is a milder form of the disorder and may not present until later in childhood or adulthood. This form is often less severe, with symptoms such as early puberty, excessive hair growth, and irregular menstrual periods in females.

What are the Symptoms of Congenital Adrenal Hyperplasia?

In Females

In Males

General Symptoms

What are the Causes of Congenital Adrenal Hyperplasia?

Congenital Adrenal Hyperplasia is caused by mutations in the genes responsible for producing enzymes involved in cortisol and aldosterone synthesis. The most common mutation occurs in the CYP21A2 gene, which encodes the 21-hydroxylase enzyme. Less common causes include deficiencies of 11-beta-hydroxylase, 17-alpha-hydroxylase, and 3-beta-hydroxysteroid dehydrogenase.

When to See a Doctor for Congenital Adrenal Hyperplasia?

Congenital Adrenal Hyperplasia (CAH) is an inherited disorder that affects the adrenal glands and disrupts the production of essential hormones such as cortisol, aldosterone, and androgens. Early diagnosis and timely treatment are crucial to prevent serious complications, including adrenal crisis, growth abnormalities, and hormonal imbalances. If you or your child experience symptoms suggestive of CAH, consult an Endocrinologist for a comprehensive evaluation and personalized treatment plan.

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How is Congenital Adrenal Hyperplasia Diagnosed?

Diagnosis of Congenital Adrenal Hyperplasia typically involves clinical evaluation, laboratory investigations, genetic testing, and imaging studies.

Newborn Screening

Newborn screening for CAH is performed in many countries by measuring levels of 17-hydroxyprogesterone (17-OHP) in a blood sample. Elevated levels may indicate an enzyme deficiency.

Biochemical Tests

Additional biochemical tests measure cortisol, aldosterone, and androgen levels to identify the specific enzyme deficiency and determine disease severity.

Genetic Testing

Genetic testing confirms the diagnosis by identifying mutations in the genes responsible for CAH. It is also valuable for family planning and prenatal diagnosis.

Radiological Assessment

Radiological imaging, including ultrasound or MRI, may be performed to evaluate the adrenal glands and detect associated abnormalities.

How is Congenital Adrenal Hyperplasia Treated?

Glucocorticoid Replacement

Glucocorticoid replacement therapy is the primary treatment for CAH and helps normalize cortisol levels. Common medications include hydrocortisone, prednisone, and dexamethasone. Treatment is individualized based on age, weight, and disease severity.

Mineralocorticoid Replacement

Individuals with salt-wasting CAH require fludrocortisone to replace aldosterone, helping maintain electrolyte balance and normal blood pressure.

Androgen Suppression

When excessive androgen production occurs, additional medications such as anti-androgens or estrogen therapy may be prescribed to reduce androgen-related symptoms.

Surgical Intervention

Females born with ambiguous genitalia may undergo reconstructive surgery to improve anatomical function and appearance when appropriate.

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What are the Prevention and Management Strategies for Congenital Adrenal Hyperplasia?

Genetic Counseling

Genetic counseling helps families understand inheritance patterns, recurrence risks, and available reproductive options when there is a history of Congenital Adrenal Hyperplasia.

Prenatal Diagnosis and Treatment

Prenatal testing, including chorionic villus sampling (CVS) or amniocentesis, can diagnose CAH before birth. Early diagnosis may allow prenatal treatment with dexamethasone to reduce virilization in affected female fetuses.

Long-Term Monitoring

Lifelong follow-up with a multidisciplinary healthcare team, including endocrinologists, geneticists, and pediatricians, is essential for monitoring growth, hormone levels, treatment response, and overall health.