MYRF基因变异致46,XY性发育异常合并主动脉缩窄  

MYRF gene variant resulted in 46,XY disorders of sex development with aortic coarctation

作　　者：金柯馨 苏喆[1] 焦燕华 潘丽丽[1] 范舒旻[1] 谢谨谨[1] Jin Kexin;Su Zhe;Jiao Yanhua;Pan Lili;Fan Shumin;Xie Jinjin(Disorders of Sex Development Multidisciplinary Team,Shenzhen Children′s Hospital,Shenzhen 518038,China)

机构地区：[1]深圳市儿童医院性发育异常多学科协作组,深圳518038

出　　处：《中华内分泌代谢杂志》2023年第12期1074-1079,共6页Chinese Journal of Endocrinology and Metabolism

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)。

摘　　要：总结1例髓鞘调节因子(myelin regulatory factor,MYRF)基因变异所致46,XY性发育异常患儿的临床特征并进行文献复习,加深专科医生对MYRF基因变异导致的临床疾病谱的认识。患儿呈女性表型伴轻度男性化,染色体为46,XY,Y染色体性别决定基因(sex-determining region of Y gene,SRY基因)阳性,实验室检查符合原发性性腺功能低下,超声未探及性腺,可见残存生殖道,心脏超声示主动脉缩窄,MYRF基因c.2518C>T(p.R840*)杂合变异,患儿父亲未携带此变异,患儿母亲失联,未完善基因检测,根据美国医学遗传学和基因组学学会(ACMG)指南分析为致病性变异。对2018年至2021年报道MYRF基因变异致性发育异常的16个病例进行复习,MYRF基因变异、46,XY及46,XX个体均可致病,可同时影响性腺及生殖管道,还可累及多系统。本例患儿由MYRF基因变异所致46,XY性发育异常伴罕见心血管合并症。在46,XY原发性性腺功能低下而无发育良好的米勒管结构时需考虑本病,确诊后需完善多脏器功能评估。To summarize the clinical manifestations of a case with 46,XY sex development disorder caused by myelin regulatory factor(MYRF)gene mutation and review the literature to deepen the specialists′understanding of the clinical disease spectrum resulting from MYRF gene variations.The child had a female phenotype with mild masculinity,chromosome 46,XY,sex-determining region of Y gene(SRY gene)positive,laboratory tests were consistent with primary hypogonadism,ultrasound did not detect the gonads,but the residual reproductive tract was visible,and echocardiography suggested coarctation of the aorta,MYRF gene c.2518C>T(p.R840*)heterozygous variant.The father did not carry this variant.The mother was untraceable,and genetic testing had not been completed.It was analyzed as pathogenic variation according to American College of Medical Genetics and Genomics(ACMG)guidelines.Sixteen cases of disorders of sex development caused by MYRF gene variation reported from 2018 to 2021 were reviewed,MYRF gene variants,46,XY,and 46,XX individuals can be pathogenic,can affect the gonad and reproductive tract at the same time,and can also affect multiple systems.In this case,the patient presents with 46,XY sex development disorder due to MYRF gene mutation,accompanied by rare cardiovascular complications.When encountering 46,XY primary hypogonadism without well-developed Müllerian duct structures,this condition should be considered.Following confirmation,a comprehensive assessment of multi-organ function is necessary.

关 键 词：46 XY 性发育异常 MYRF基因 变异 主动脉缩窄 

分 类 号：R725[医药卫生—儿科]