A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency  

作　　者：Luis Ramos 

机构地区：[1]Department of Reproductive Biology,Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubirdn,Tlalpan,Mexico City 14080,Mexico

出　　处：《Genes & Diseases》2024年第4期128-130,共3页基因与疾病（英文）

基　　金：the Declaration of Helsinki and the standard investigation protocols of the Institutional Ethical Committee for Investigation in Humans of the INCMNSZ(No.BRE-2614-18-21-1).

摘　　要：Steroidogenic factor 1(SF1/NR5A1;nuclear receptor subfamily 5 group A member 1)is an essential orphan protein involved in gonadal embryogenesis,sex determination,and reproductive endocrinology.

关 键 词：INSUFFICIENCY determination gonadal 

分 类 号：R692[医药卫生—泌尿科学]