Congenital Adrenal Hyperplasia - CAH

Congenital Adrenal Hyperplasia - Symptom, Cause and Treatment

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.

A person with CAH will not be able to produce several vital hormones known as corticosteriods.  CAH is treated with hormone replacement, replacing one or both of the hormones missing, generally with Cortef and Florinef. Living with CAH requires extra attention to common illnesses and stress inducing situations (injury, exercise, etc.) and very good communication with your Endocrinologist.

Classical congenital adrenal hyperplasia is rare, affecting only one in 14,000 patients, but mild forms of the disease may occur in one of every 100 to 1,000 persons. The condition is caused by a deficient synthesis of cortisol; most cases are related to 21-hydroxylase or 11-ß hydroxylase deficiency. The affected enzyme can be totally or partially impaired. The degree of enzyme insufficiency determines the severity of the condition.

Causes of Congenital Adrenal Hyperplasia

The different types of adrenogenital syndrome are inherited as autosomal recessive diseases and can affect both boys and girls. The defect involves a lack of an enzyme needed by the adrenal gland to make the major steroid hormones of the adrenal cortex: cortisol and aldosterone.

Without these hormones, steroids are 'diverted' to becoming androgens, a form of male sex hormones. This causes early (or inappropriate) 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 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.

Diagnosis of Congenital Adrenal Hyperplasia

The diagnosis of CAH has traditionally rested on hormone measurements combined with clinical evaluation, including history and physical examination. A number of states in the U.S. as well as several foreign countries now perform a hormonal test for CAH within the first few days of life. These heel-prick blood specimens are obtained at the time when blood is drawn for thyroid tests and a number of other inherited diseases. The rationale for newborn screening is that mainly in boys, who have no outward sign of the disease, the mortality from "adrenal crisis" is high, and this could be entirely prevented by early diagnosis and medical treatment.

Treatment of Congenital Adrenal Hyperplasia

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. 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.

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Site last updated: March 4, 2008