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17 alpha-hydroxylase deficiency

Monday 25 May 2009

Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1.

17α-hydroxylase deficiency produces decreased synthesis of both cortisol and sex steroids, with resulting increase in mineralocorticoid production.

Thus, common symptoms include mild hypocortisolism, ambiguous genitalia in genetic males or failure of the ovaries to function at puberty in genetic females, and hypertension (respectively).