DHX37基因杂合变异——胚胎睾丸退化综合征的常见病因  

DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome

作　　者：潘丽丽[1] 苏喆[1] 焦燕华 孙俊杰 尹鉴淳[1] 王浩[1] 江贤萍[1] 范舒旻[1] 齐鸿涛 郑荣飞 赏月[1] Pan Lili;Su Zhe;Jiao Yanhua;Sun Junjie;Yin Jianchun;Wang Hao;Jiang Xianping;Fan Shumin;Qi Hongtao;Zheng Rongfei;Shang Yue(Shenzhen Children′s Hospital DSD Multidisciplinary Team,Shenzhen 518038,China)

机构地区：[1]深圳市儿童医院DSD多学科协作组,518038

出　　处：《中华内分泌代谢杂志》2022年第4期306-312,共7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：目的在国内首次报道DHX37基因杂合变异所致的胚胎睾丸退化综合征(embryonic testicular regression syndrome,ETRS),总结其临床特征,以提高临床医生对该病的认识。方法收集深圳市儿童医院5例ETRS患者的临床资料及全外显子基因检测结果,对已报道的DHX37基因杂合变异病例进行复习。结果5例ETRS患儿初诊年龄2个月~5岁5个月,社会性别男性3例,因男性化不全就诊,女性2例,因阴蒂肥大就诊,超声检查均未显示子宫。4例病理活检提示睾丸组织消失或发育不良,合并性腺母细胞瘤1例。基因检测发现2例DHX37基因存在c.923G>A(p.R308Q)杂合变异,余3例未发现致病性变异。检索文献发现,2019年首次报道DHX37基因杂合变异致ETRS及46,XY性腺发育不良,共40例,ETRS21例,以男性化不全表型常见,亦可见女性表型,睾丸组织消失为主要病理改变,国内未见报道。结论本文总结5例ERTS的临床表现和全外显子检测结果,其中2例由DHX37杂合变异引起,1例合并性腺母细胞瘤。Objective To report embryonic testicular regression syndrome(ETRS)caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected.The reported cases of DHX37 heterozygous variant were reviewed.Results Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months.Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy.No uterus was detected by ultrasound in all patients.The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis,complicated with gonadoblastoma in one case.The genetic testing revealed that the heterozygous variant(c.923G>A,p.R308Q)in DHX37 was found in 2 cases,without variant in other 3 cases.According to the review,ETRS and 46,XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019.A total of 40 cases,including 21 cases of ETRS,presented with the virilition or female phenotype,with the disappearance of testicular tissue as the main pathologies.There is no report in China.Conclusion The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS,among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.

关 键 词：胚胎睾丸退化综合征 DHX37基因 46 XY性腺发育不良 

分 类 号：R726.9[医药卫生—儿科]