Advance in mutations of steroidogenic factor-1 and the related clinical phenotype

VernacularTitle:类固醇生成因子-1基因突变及其相关临床表型研究进展
Author: Xuemeng LIU ¹ ; Jie QIAO
Author Information

1. 上海交通大学医学院附属第九人民医院内分泌科，上海　200011
Keywords: Disorders of sex development; 46, XY disorders of sex development; Steroidogenic factor-1; NR5A1 mutation
From: Chinese Journal of Endocrinology and Metabolism 2022;38(2):165-169
CountryChina
Language:Chinese
Abstract: Steroidogenic factor-1 (SF-1, NR5A1) is a transcription factor that plays a key role in the development of gonad and adrenal gland. NR5A1 gene mutation is one of the common causes of disorders of sex development(DSD). Heterozygous mutations of NR5A1 gene accounts for the majority of reported cases with various phenotyre. Early reported cases manifested with varying degrees of 46, XY gonadal dysplasia, whereas NR5A1 mutation was revealed to be related with the phenotypes of azoospermia in men and premature ovarian insufficiency in women recently. Adrenocortical insufficiency is absent in most cases. The heterogeneity of the clinical phenotype is considered resulting from the functional impact of different gene mutations on transcriptional activity, dose effect of downstream target gene(such as SOX9)and the genetic background of oligogenic mutation, etc. The process and regulation of gonadal development might be understood comprehensively by investigating the genotype and related phenotype of NR5A1.