New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.

Abstract excerpt

BACKGROUND: Combined 17alpha-hydroxylase/17,20-lyase deficiency (17OHD), caused by mutations in the CYP17A1 gene, is a rare autosomal recessive form of congenital adrenal hyperplasia and characterized by hyporeninemic hypokalemic hypertension, primary amenorrhea and absence of secondary sexual characteristics. SUBJECTS AND METHODS: Twenty six 17OHD subjects from 23 Chinese families were recruited. The CYP17A1...

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