Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders that affect the adrenal glands. These disorders are characterized by impaired ability of the adrenal glands to produce corticosteroids, which are essential for various bodily functions.

Etiology

CAH is caused by mutations in genes that encode enzymes involved in the production of corticosteroids. The most common form of CAH, accounting for about 95% of cases, is due to a deficiency in the enzyme 21-hydroxylase. Other less common forms of CAH are caused by deficiencies in the enzymes 11β-hydroxylase, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase, and P450 oxidoreductase.

Clinical Presentation

The clinical presentation of CAH varies depending on the specific enzyme deficiency and the severity of the mutation. Symptoms can range from mild to severe and may include virilization or feminization, early onset of puberty, infertility, and potentially life-threatening adrenal crisis.

Diagnosis

Diagnosis of CAH is typically made through a combination of clinical examination, biochemical testing, and genetic testing. Biochemical testing involves measuring levels of specific hormones in the blood or urine, while genetic testing involves analyzing the DNA for mutations in the relevant genes.

Treatment

Treatment for CAH primarily involves hormone replacement therapy to correct the deficiency in corticosteroids. In some cases, surgery may be required to correct anatomical abnormalities resulting from the disorder.

Prognosis

With appropriate treatment, individuals with CAH can lead normal lives. However, they may require lifelong medication and regular medical follow-up.

See Also

• Adrenal gland
• Corticosteroids
• Genetic disorders
• Hormone replacement therapy

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