DHX37基因突变致46,XY睾丸退化综合征临床分析及文献复习  

46,XY testicular regression syndrome due to heterozygous variant of DHX37 gene and literature review

作　　者：廖立红 钟敏 付学东[1] 郭云凯 高贺云 张文[2] 赵东赤[1] LIAO Lihong;ZHONG Min;FU Xuedong;GUO Yunkai;GAO Heyun;ZHANG Wen;ZHAO Dongchi(Department of Pediatrics,Zhongnan Hospital of Wuhan University,Wuhan,Hubei,430071,China;Department of Pediatrics Surgery,Zhongnan Hospital of Wuhan University,Wuhan,Hubei,430071,China)

机构地区：[1]武汉大学中南医院儿科,湖北武汉430071 [2]武汉大学中南医院儿外科,湖北武汉430071

出　　处：《中国优生与遗传杂志》2023年第6期1237-1240,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨DHX37基因突变导致的46,XY睾丸退化综合征(TRS)的临床特点及文献复习。方法收集1例社会性别为女性的46,XY睾丸退化综合征患儿的临床资料,于全麻下行双侧性腺探查活检,对患儿及父母亲外周血样进行全外显子测序分析。结果患儿,2岁11月,社会性别为女性,因发现外阴部异常2年余就诊;性激素水平、HCG刺激实验及ACTH刺激试验等实验室检查支持高促性腺激素性腺功能减退症诊断。染色体核型为46,XY,性别决定基因(SRY)阳性,未检测到SRY基因突变,CNVseq结果显示为正常男性。双侧性腺病理检查示发育不良的输卵管组织及发育不良附睾管组织。全基因组外显子测序提示DHX37基因,c.911C>T(p.T304M)杂合突变,父母外周血基因检测该位点正常。结论DHX37基因突变可能是46,XY睾丸退化综合征的主要遗传学病因之一。Objective To explore the clinical features and literature review of 46,XY testicular regression syndrome caused by DHX37 gene mutation.Methods Clinical data were collected from a patient with 46,XY testicular regression syndrome,and bilateral gonad biopsy was performed under general anesthesia,and whole exon sequencing was performed on the peripheral blood samples from the patient and his parents.Results The 2 years old and 11 months old child raised as female visited clinic due to abnormal vulva for more than 2 years.Laboratory tests such as sex hormone levels,HCG stimulation test and ACTH stimulation test suggested the diagnosis of hypergonadotropic hypogonadism.The chromosome is 46,XY,sex-determining gene testing was positive with no SRY gene mutation detected,results of CNV sequence is normal.Pathological examination of bilateral gonads showed dysplasia of oviduct tissue and dysplasia of epididynis tissue.Sequencing of the whole genome exon group showed a heterozygous mutation of c.911C>T(p.T304M)in DHX37 gene,the detection site from Parents’peripheral blood is normal.Conclusion Mutations in the DHX37 gene may be one of the main genetic causes of 46,XY testicular regression syndrome.

关 键 词：46 XY睾丸退化综合征 高促性腺激素性腺功能减退症 DHX37基因 

分 类 号：R697.22[医药卫生—泌尿科学]