LHCGR基因变异致Ⅱ型间质细胞发育不全1例  

Type II Leydig cell hypoplasia caused by LHCGR gene mutation:a case report

作　　者：金柯馨 苏喆[1] 焦燕华 潘丽丽[1] 江贤萍[1] 尹鉴淳[1] 李家强 JIN Ke-Xin;SU Zhe;JIAO Yan-Hua;PAN Li-Li;JIANG Xian-Ping;YIN Jian-Chun;LI Jia-Qiang(Department of Endocrinology,Shenzhen Children's Hospital,Shenzhen,Guangdong 518038,China)

机构地区：[1]深圳市儿童医院内分泌科,广东深圳518038

出　　处：《中国当代儿科杂志》2025年第2期225-228,共4页Chinese Journal of Contemporary Pediatrics

基　　金：广东省高水平临床重点专科(深圳市配套建设经费)项目(SZGSP012);深圳市“医疗卫生三名工程”项目(SZSM202411011)。

摘　　要：患儿,社会性别女性,1岁7个月,临床表现为46,XY性发育异常,外生殖器呈重度男性化不全表型,实验室检查及性腺活检提示睾丸间质细胞功能差而支持细胞功能良好,基因检测发现LHCGR基因存在c.867-2A>C及c.547G>A(p.G183R)复合杂合变异,最终诊断为Ⅱ型间质细胞发育不全。Ⅱ型间质细胞发育不全临床表型谱广,睾丸间质细胞与支持细胞功能不平行,生精功能及性别选择个体化差异大,当睾丸间质细胞功能差而华氏管发育良好时需考虑该病。The patient,assigned female at birth and aged 1 year and 7 months,presented with clinical manifestations of 46,XY disorders of sex development.The external genitalia exhibited a severely undermasculinized phenotype.Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function.Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A(p.G183R)in the LHCGR gene.The patient was ultimately diagnosed with type II Leydig cell hypoplasia.Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes,characterized by a lack of parallel function between Leydig cells and Sertoli cells,and significant individual variability in spermatogenesis and gender assignment.This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.

关 键 词：间质细胞发育不全 LHCGR基因 46 XY性发育异常 幼儿 

分 类 号：R73[医药卫生—肿瘤]