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

摘要

Background: Combined 17alpha-hydroxylase/17,20-lyase deficiency (170HD), 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.