苗勒管永存综合征临床治疗的研究进展  

Recent advances in the treatment of persistent Müllerian duct syndrome

作　　者：田红娟[1] 吴德华[1] 茹伟[1] 唐达星[1] 陶畅[1] Tian Hongjuan;Wu Dehua;Ru Wei;Tang Daxing;Tao Chang(Department of Urology,Children’s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310029,China)

机构地区：[1]浙江大学医学院附属儿童医院泌尿外科国家儿童健康与疾病临床医学研究中心,杭州310029

出　　处：《中华泌尿外科杂志》2022年第8期628-631,共4页Chinese Journal of Urology

基　　金：国家重点研发计划(2018YFC1002702)。

摘　　要：男性性分化由胎儿睾丸分泌的睾酮和抗苗勒管激素(AMH)驱动。AMH的作用是使男性胎儿的苗勒管退化。AMH或其受体AMHR2突变失活将导致正常男性化的46,XY男性出现苗勒管永存综合征(PMDS)。术前查体发现睾丸越过身体中线需怀疑PMDS,应行盆腔超声、AMH激素水平、染色体和基因检测以明确诊断。确诊PMDS后无需做性腺活检,可一期手术矫正隐睾和斜疝,尽量剥除或破坏苗勒管残留物的内膜组织,预防苗勒管的恶性变,同时避免损伤输精管。Male sex differentiation is driven by 2 hormones produced by the fetal testis,testosterone and anti-Müllerian hormone(AMH),responsible for the regression of müllerian ducts in male fetuses.Mutations inactivating AMH or its receptor AMHR2 lead to the persistent müllerian duct syndrome(PMDS)in otherwise normally virilized 46,XY males.Further assessment was carried out when suspicion of PMDS arose from physical examination which revealed that the testis crossed to the contralateral side of the body.Further examination include ultrasound,AMH concentration,karyotype,and gene sequencing.Once PMDS is considered,there is no need to perform the gonads biopsy.The optical surgery methods include one-stage cryptorchidism and hernia curation,and at the same time.Stripping/destroying the mucosa of the retained müllerian remnants to reduce the risk of malignancy and,simultaneously,to prevent the damage to vas deference.

关 键 词：性发育障碍 抗苗勒管激素 苗勒管永存综合征 

分 类 号：R726.9[医药卫生—儿科]