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Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) is a family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal glands. The adrenal glands produce glucocorticoids, mineralocorticoids, and sex steroids (androgens). This entry examines the pathophysiology, classification, clinical features, diagnosis, and treatment of CAH and how CAH affects both sex and gender.
Pathophysiology
Enzyme blockages in the adrenal pathway cause a constellation of defects in glucocorticoid, mineralocorticoid, and androgen production. More than 90% of cases of CAH are caused by deficiency of the enzyme 21-hydroxylase, resulting in poor glucocorticoid production and excess androgen production. Deficiency of the 11-beta-hydroxylase enzyme is the second most common cause of CAH and also leads to excess androgen production.
Deficiencies of these adrenal enzymes cause decreased cortisol production, leading to a lack of ...
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