类固醇生成因子-1基因突变及其相关临床表型研究进展  

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

作　　者：刘雪萌 乔洁[1] Liu Xuemeng;Qiao Jie(Department of Endocrinology,Shanghai Ninth People′s Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200011,China)

机构地区：[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

出　　处：《中华内分泌代谢杂志》2022年第2期165-169,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金(81873652)。

摘　　要：类固醇生成因子(SF-1,NR5A1)是在性腺及肾上腺发育过程中起关键调控作用的转录因子。NR5A1基因突变是性发育异常(disorders of sex development,DSD)常见病因之一,目前临床报道的病例多为杂合突变。该基因突变患者临床表型复杂,早期报道的患者表现为不同程度的46,XY性腺发育不良,近年发现该基因突变与男性无精症或女性的卵巢早衰有关,多数患者无肾上腺皮质功能不全。目前认为患者临床表型异质性,可能与不同基因突变对转录活性的功能影响、下游靶基因(如SOX9等)基因剂量效应以及寡基因突变等的遗传背景等相关。通过对NR5A1突变的基因型和相关表型开展研究,有助于人们深入理解性腺发育的过程及其调控机制。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.

关 键 词：性发育异常 46 XY性发育异常 类固醇生成因子1 NR5A1突变 

分 类 号：R588[医药卫生—内分泌]