Article
A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
Metabolism: clinical and experimental - 1 Apr 2003
Hahm Jong Ryeal, Kim Deok Ryong, Jeong Dong Kee, Chung Jae Hoon, Lee Myung-Shik, Min Yong-Ki, Kim Kwang-Won, Lee Moon-Kyu
Abstract excerpt
Mutations in the CYP17 gene impair steroid biosynthesis in the adrenals and gonads and often cause 17alpha-hydroxylase/17,20-lyase deficiency, leading to amenorrhea, sexual infantilism, and hypokalemic low aldosterone hypertension. Several CYP17 mutations resulting in 17alpha-hydroxylase/17,20-lyase deficiency have been reported previously. In the present study, we found a novel CYP17 mutation from the molecular...
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