A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.

doi:10.1016/j.metabol.2006.11.009

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Article

A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.

Metabolism: clinical and experimental - 1 Apr 2007

Won Gin-Sing, Chiu Chih-Yang, Tso Yi-Chu, Jenq Shwu-Fen, Cheng Pi-Sung, Jap Tjin-Shing

Abstract excerpt

Mutations in the CYP17 gene impair steroid biosynthesis in the adrenals and gonads, resulting in 17alpha-hydroxylase/17,20-lyase (P450c17) deficiency, leading to amenorrhea, sexual infantilism, hypokalemia, and hypertension. To date, more than 50 mutations in the CYP17 gene associated with congenital adrenal hyperplasia have been described. In this study, we analyzed a 36-year-old phenotypic female, genotypic...

Topics

Adrenal Hyperplasia, Congenital
Adult
Base Sequence
China
DNA Primers
Female
Heterozygote
Humans
Mutation
Polymerase Chain Reaction
Steroid 17-alpha-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 17379008
DOI: 10.1016/j.metabol.2006.11.009

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