Article
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Aug 2009
Tian Qinjie, Yao Fengxia, Sha Guihua, Huang Shangzhi, Tseng Hung, Schindler Adolf E
Abstract excerpt
BACKGROUND: 17-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia caused by CYP17A1 gene mutations. METHOD: A 46,XY and a 46,XX Chinese patients with 17-hydroxylase deficiency in a family and their four generations family members were genotyped by PCR-sequencing method. RESULTS: Two CYP17 gene mutations were identified from these patients. Among them, IVS1-1G > A was a novel splicing mutation...
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