Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen,[1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex.
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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency | |
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Other names | CYP11B1 deficiency |
Human steroidogenesis. The action of 11β-hydroxylase is seen in red box at right. |
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