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17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.

The Journal of steroid biochemistry and molecular biology - 1 Nov 2017

Yang Zuwei, Ye Lei, Wang Wei, Zhao Yu, Wang Wencui, Jia Huiying, Dong Zhiya, Chen Yuhong, Wang Weiqing, Ning Guang, Sun Shouyue

Abstract excerpt

17β-Hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, however, no case has been reported in East Asia. The aim of this study was to report three Chinese 46, XY females with 17β-HSD3 deficiency in a single center and perform a systematic review of the literature. Clinical examination, endocrine evaluation and...

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PMID: 28847746
DOI: 10.1016/j.jsbmb.2017.08.012

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