Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development.

Author: Shu-Ping LI ¹ ; Li-Wei LI ¹ ; Ming-Xia SUN ¹ ; Xin-Xin CHEN ² ; Xiu-Feng WANG ³ ; Zeng-Kui LI ⁴ ; Sheng-Yun ZHOU ⁴ ; Dong-Cai ZHAI ⁴ ; Shu-Xia GENG ³ ; Shu-Jun LI ¹ ; Xiao-Wei DOU ⁵
Author Information

1. The Second Clinical Laboratory, Xingtai People's Hospital, Xingtai 054000, China.
2. Nutrition Department, Xingtai People's Hospital, Xingtai 054000, China.
3. Department of Paediatrics, Xingtai People's Hospital, Xingtai 054000, China.
4. Function Examination Department, Xingtai People's Hospital, Xingtai 054000, China.
5. Clinical Research Center, The Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China.
Publication Type:Letter
MeSH: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*; Child, Preschool; DNA Mutational Analysis; Disorder of Sex Development, 46,XY/genetics*; Female; Humans; Membrane Proteins/genetics*; Mutation
From: Asian Journal of Andrology 2018;20(5):518-519
CountryChina
Language:English