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Overview of Congenital Adrenal Hyperplasia

(Adrenogenital Syndrome; Adrenal Virilism)

By

Andrew Calabria

, MD, Perelman School of Medicine at The University of Pennsylvania

Last full review/revision Jul 2020| Content last modified Jul 2020
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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, adrenocorticotropic hormone (ACTH, corticotropin) release, normally suppressed by cortisol, is excessive.

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

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