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Category: Endocrinology

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Congenital adrenal hyperplasia overview

Published: July 08, 2009. Updated: August 09, 2009

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease resulting from a defect in the synthesis of corticosteroids by the adrenal gland.

In most cases the defect is in the enzyme 21-hydroxylase, which results in aldosterone and cortisol deficiency and an overproduction of androgens. Common features of CAH include early masculinization of males and virilization of females.

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