[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].

Abstract

OBJECTIVE To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. METHODS Clinical data and hormone profiles were collected from the… (More)

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Cite this paper

@article{Liang2008ACA, title={[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].}, author={Jun Liang and Jie Qiao and Xia Chen and Qing-Qiang Wu and H K S Heng and Tong Zhang and Jia-jun Zhao and Huai-dong Song}, journal={Zhonghua nei ke za zhi}, year={2008}, volume={47 6}, pages={482-5} }