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Overview of Congenital Adrenal Hyperplasia

(Adrenogenital Syndrome; Adrenal Virilism)

by Andrew Calabria, MD

Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. In the most common forms, accumulated hormone precursors are shunted into androgen production, causing androgen excess; in rarer forms, synthesis of androgens is also inadequate.

In the various forms of congenital adrenal hyperplasia, production of cortisol (a glucocorticoid), aldosterone (a mineralocorticoid), or both is impaired because of an autosomal recessive genetic defect in one of the adrenal enzymes involved in synthesizing adrenal steroid hormones from cholesterol. The enzyme may be absent or deficient, completely or partially disabling synthesis of cortisol, aldosterone, or both. In the forms in which cortisol synthesis is absent or decreased, ACTH (corticotropin) release, normally suppressed by cortisol, is excessive.

The most common forms of congenital adrenal hyperplasia are 21-hydroxylase deficiency (see Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency) and 11β-hydroxylase deficiency (see Congenital Adrenal Hyperplasia Caused by 11 ß -Hydroxylase Deficiency). In these forms, precursors proximal to the enzyme block accumulate and are shunted into adrenal androgens. The consequent excess androgen secretion causes varying degrees of virilization in external genitals of affected female fetuses; no defects are discernible in external genitals of male fetuses.

In some less common forms affecting enzymes other than 21-hydroxylase and 11β-hydroxylase, the enzyme block impairs androgen synthesis (dehydroepiandrosterone [DHEA] or androstenedione). As a result, virilization of male fetuses is inadequate, but no defect is discernible in female fetuses.

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