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Adrenal hyperplasia refers to a radical of inherited adrenal gland disorders. People with this condition do no make enough of the hormones cortisol and aldosterone, and produce too much of androgen. Most of these conditions involve greater or lesser production of sex steroids and can alter development of primary or secondary sex characteristics in affected infants, children, and adults. Adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack of an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. There are two major types of this disorder: classic adrenal hyperplasia, the more severe form of the disease affecting very young children; and nonclassic adrenal hyperplasia, a milder form that usually develops in late childhood or early adulthood.

New-sprung girls with this disease have a swollen clitoris with the urethral opening at the base. The internal structures of the female reproductive tract are normal. No obvious problems are seen in newborn males, but changes can be seen long before puberty normally occurs. People with adrenal hyperplasia lack of an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. The child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens. Although adrenal hyperplasia can be life-threatening, most people with it can lead normal lives with proper treatment. Some forms of adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to salt wasting.

A newborn screening test is available for the most common form of adrenal hyperplasia and can be done on heelstick blood. Adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge. Most forms of adrenal hyperplasia are usually treated by use of medication. Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Affected girls are then born with normal external genitalia and do not require corrective surgery. Untreated, this condition can lead to death within 1 to 6 weeks after birth. Parents of children with congenital adrenal hyperplasia should be aware of the side effects of steroid therapy.

By: Juliet Cohen

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