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CAH: Congenital Adrenal Hyperplasia...

Alternate Names: 21-Hydroxylase Deficiency, Adrenogenital Syndrome


Congenital adrenal hyperplasia refers to a group of inherited disorders relating to the adrenal glands, characterized by a deficiency in the hormones cortisol and aldosterone and an overproduction of androgen.

Overview, Causes, & Risk Factors

The different types of adrenogenital syndrome are inherited as autosomal recessive diseases and can affect both boys and girls. The defect is lack of an enzyme needed by the adrenal gland to make the major steroid hormones of the adrenal cortex: cortisol and aldosterone. Due to the block in synthesis of these hormones, there is abnormal 'feedback' and steroids are 'diverted' to becoming androgens, a form of male sex hormones. This causes early appearance of male characteristics.

In a newborn girl with this disorder, the clitoris is enlarged with the urethral opening at the base (ambiguous genitalia, often appearing more male-like than female). The internal structures of the reproductive tract (ovaries, uterus, and fallopian tubes) are normal. As she grows older, masculinization of some features takes place, such as deepening of the voice, the appearance of facial hair, and failure to menstruate at puberty.

In a newborn boy no obvious abnormality is present, but long before puberty normally occurs, the child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens. Affected males may appear to enter puberty as early as 2-3 years of age. At puberty, the testes are small.

Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to salt wasting. In this salt-losing form of congenital adrenal hyperplasia, newborns develop symptoms shortly after birth. These include vomiting, dehydration, electrolyte changes, and cardiac arrhythmias. Untreated, this condition can lead to death within 1-6 weeks after birth.

About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

Diagnosis & Tests

This disease may also alter the results of the following tests:

Symptoms & Signs

Both boys and girls will be tall as children but significantly shorter than normal as adults.


The goal of treatment is to return hormone levels to normal. This is achieved by daily administration of forms of cortisol: dexamethasone, fludrocortisone, or hydrocortisone. Additional doses of medicine are required during times of stress such as severe illness or surgery.

The gender of a baby with ambiguous genitalia is determined by examination of the chromosomes (karyotyping). Reconstructive surgery for girls with masculine external genitalia is usually performed between the ages of 1 and 3 months to correct the abnormal appearance.

Parents of children with this disorder need instruction on the side effects of steroid therapy. They should report signs of infection and stress to their health care provider because increases in medication may be required. In addition, steroid medications cannot be stopped suddenly or adrenal insufficiency will result.

Adapted from

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