苗勒管永存综合征的临床特征分析  

Clinical characteristics of persistent Müllerian duct syndrome

作　　者：郑荣飞 苏喆[1] 王立[1] 江贤萍[1] 游晶玉 赏月[1] 尹鉴淳[1] 范舒旻[1] 潘丽丽[1] 陈蔚[1] Zheng Rongfei;Su Zhe;Wang Li;Jiang Xianping;You Jingyu;Shang Yue;Yin Jianchun;Fan Shumin;Pan Lili;Chen Wei(DSD Multidisciplinary Team,Shenzhen Children's Hospital,Shenzhen 518038,China)

机构地区：[1]深圳市儿童医院DSD多学科协作组,深圳518038

出　　处：《中华小儿外科杂志》2024年第2期132-137,共6页Chinese Journal of Pediatric Surgery

基　　金：广东省高水平临床重点专科资助(SZGSP012)。

摘　　要：目的分析苗勒管永存综合征(persistent Müllerian duct syndrome,PMDS)的临床特征,并探讨PMDS患儿的睾丸功能评估以及肿瘤的发生风险。方法收集2010年1月至2022年4月于深圳市儿童医院住院诊断为PMDS的5例男患儿的临床资料,患儿中位年龄15个月,年龄范围为5~26个月。采用外生殖器男性化程度评分系统(external masculinization scores,EMS)进行评分,人绒毛膜促性腺激素激发试验进行性腺功能评估,行超声检查、遗传学基因检测、外科手术及病理学检查。结果 5例中有3例为双侧隐睾、1例为单侧隐睾、1例为睾丸横过异位。根据EMS评分,5例患儿外生殖器呈轻至中度男性化不全。4例患儿行人绒毛膜促性腺激素激发试验提示睾丸间质细胞功能良好(睾酮14.68~29.10 nmol/L),3例患儿抗苗勒管激素(anti-Müllerian hormone,AMH)低于年龄正常参考值,1例水平正常,1例初诊时未检测AMH。经盆腔超声检查发现苗勒管残留物(Müllerian remnants,MRs)3例,1例未行盆腔超声检查。5例患儿染色体核型分析均为46,XY。4例患儿全外显子测序结果为2例AMH基因变异、2例AMHR2基因变异。5例患儿均行双侧睾丸下降固定术和腹腔镜探查,均发现MRs。4例患儿行性腺病理均为发育不良的睾丸。结论在睾丸下降不全患儿中应注意识别PMDS,并尽早行隐睾下降固定。PMDS发生睾丸肿瘤的风险远远高于其他隐睾患儿,需严密监测。Objective To explore the clinical characteristics of persistent Müllerian duct syndrome(PMDS)and to examine testicular functions and its influencing factors as well as malignant degeneration of testicular in children.Methods From January 2010 to April 2022,a descriptive study was conducted for 5 hospitalized PMDS boys with a median age of 15(5-26)months.External masculinization score(EMS)was utilized for evaluating external genitalia.And human chorionic gonadotropin(hCG)stimulation test was employed for assessing gonadal function.Ultrasonography,genetic analysis,surgical procedures and pathological findings were recorded.Results There were bilateral cryptorchidism(n=3),unilateral cryptorchidism(n=1)and transverse testicular ectopia(n=1).All external genitalia showed mild-to-moderate under-masculinization according to EMS.And 4/5 patients showed decent functions of Leydig cells after hCG stimulation test with a testosterone level of 14.68 to 29.10 nmol/L.Anti-Müllerian hormone(AMH)level was low(n=3),normal(n=1)and non-detected(n=1)at an initial diagnosis.Müllerian remnants(MRs,n=3)were detected by pelvic ultrasonography.However,one child received no pelvic ultrasound examination.All karyotypes were 46,XY.Whole exome sequencing revealed AMH(n=2)and AMHR2 gene mutation(n=2).Laparoscopy and orchidopexy were performed simultaneously and MRs were present.Gonad biopsies revealed testicular tissue with dysplasia(n=4).Conclusion PMDS should be suspected in children with cryptorchidism and orchidopexy performed at an earlier stage.The risk of testicular tumor is much higher in PMDS than in those with cryptorchidism.Close monitoring is required.

关 键 词：睾丸 抗苗勒管激素 苗勒管永存综合征 苗勒管残留物 

分 类 号：R726.9[医药卫生—儿科]