A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.

Abstract excerpt

OBJECTIVE: 17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia, characterized by hypertension and sexual infantilism and caused by loss-of-function mutations in CYP17A1. This study investigated the clinical and molecular characteristics of six adults with 17α-hydroxylase/17,20-lyase deficiency and the functional consequences of a novel CYP17A1 mutation. MATERIALS AND METHODS:...

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