- 17α-hy·drox·y·lase de·fi·cien·cy (hi-drokґsə-lās) an autosomal recessive disorder of steroidogenesis caused by mutation in the CYP17A1 gene (locus: 10q24.3), which encodes steroid 17α-monooxygenase; the resulting enzyme deficiency causes one type of congenital adrenal hyperplasia (type V). The disorder is characterized by decreased cortisol, androgens, estrogens, and aldosterone production and increases in 17-deoxysteroids such as corticosterone and deoxycorticosterone, resulting in hypertension, hypokalemia, and hypogonadism. Severe deficiency during fetal life can cause male pseudohermaphroditism; postnatally, it can impair sexual development in both males and females. See table at hyperplasia and see also 17,20 lyase deficiency.
Medical dictionary. 2011.
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