17 alpha-hydroxylase deficiency pathophysiology: Difference between revisions
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==Pathogenesis== | ==Pathogenesis== | ||
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of [[congenital adrenal hyperplasia]] resulting from a defect in the [[gene]] [[CYP17A1]], which encodes for the [[enzyme]] 17α-hydroxylase. It produces decreased synthesis of both [[cortisol]] and [[sex steroid]]s, 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). | Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of [[congenital adrenal hyperplasia]] resulting from a defect in the [[gene]] [[CYP17A1]], which encodes for the [[enzyme]] 17α-hydroxylase. It produces decreased synthesis of both [[cortisol]] and [[sex steroid]]s, 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). This form of CAH results from deficiency of the [[enzyme]] [[17α-hydroxylase]] (also called [[CYP17A1]]). It accounts for less than 5% of the cases of [[congenital adrenal hyperplasia]]. | ||
===Mineralocorticoid Effects=== | ===Mineralocorticoid Effects=== | ||
Revision as of 21:14, 1 February 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Pathogenesis
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. It 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). This form of CAH results from deficiency of the enzyme 17α-hydroxylase (also called CYP17A1). It accounts for less than 5% of the cases of congenital adrenal hyperplasia.
Mineralocorticoid Effects
Genetics
