Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.

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第一作者： Hui,Zhu

第一单位： Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.

作者： Hui,Zhu ^[1] ; Haijun,Yao ^[2] ; Xuemeng,Liu ^[1] ; Yue,Xu ^[1] ; Yang,Liu ^[3] ; Qingqiong,Luo ^[4] ; Yan,Chen ^[5] ; Yuanping,Shi ^[1] ; Fuxiang,Chen ^[4] ; Shuangxia,Zhao ^[6] ; Huaidong,Song ^[6] ; Bing,Han ^[7] ; Jie,Qiao ^[8]

作者单位： Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[1] Department of Urology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[2] Department of Plastic Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[3] Department of Clinical Laboratory, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[4] Department of Obstetrics and Gynecology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[5] Research Centre for Clinical Medicine, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. ^[6] Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. Electronic address: foxhb1423@126.com. ^[7] Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China. Electronic address: qiaoj2001@126.com. ^[8]

关键词 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency Disorder/differences of sex development (DSD)Functional assay HSD17B3 mutation

主题词女(雌)性(Female);人类(Humans);色谱法, 液相(Chromatography, Liquid);串联质谱法(Tandem Mass Spectrometry);17-羟甾类脱氢酶类(17-Hydroxysteroid Dehydrogenases);中国(China)

DOI 10.1016/j.jsbmb.2022.106191

PMID 36154887

发布时间 2023-01-31

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