Article
Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.
Steroids - 1 Oct 2017
Yu Bingqing, Liu Zhaoxiang, Mao Jiangfeng, Wang Xi, Zheng Junjie, Xiong Shuyu, Cui Mingxuan, Ma Wanlu, Huang Qibin, Xu Hongli, Huang Bingkun, Nie Min, Wu Xueyan
Abstract excerpt
17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts the inactive Δ4-androstenedione (A) to testosterone (T). Its deficiency is the most common testosterone biosynthesis defect that results in 46,XY Disorders Of Sex Development (DSD). However, the disease is difficult to distinguish from other 46,XY DSD for similar clinical phenotypes. Therefore, genetic testing provides good criteria for the diagnosis of...
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