45,X/46,XY嵌合体患儿的临床特征及外科治疗分析  

Clinical characteristics and surgical treatment analysis of children with 45,X/46,XY mosaicism

作　　者：彭柳成 陈毅夫 童方运 殷波 赵夭望 胡建军 Peng Liucheng;Chen Yifu;Tong Fangyun;Yin Bo;Zhao Yaowang;Hu Jianjun(Department of Urology,Affiliated Children's Hospital,Xiangya School of Medicine,Central South University,Changsha 410007,China)

机构地区：[1]中南大学湘雅医学院附属儿童医院(湖南省儿童医院)泌尿外科,长沙410007

出　　处：《临床小儿外科杂志》2024年第11期1042-1048,共7页Journal of Clinical Pediatric Surgery

基　　金：临床医疗技术创新引导项目(2021SK50525);湖南省儿童泌尿生殖疾病临床医学研究中心(2021SK4017)。

摘　　要：目的分析45,X/46,XY嵌合体患儿的临床资料,总结其临床特征并探讨其性腺及残留苗勒氏管组织的外科治疗方法。方法本研究为回顾性研究,以2011年3月至2023年7月就诊于湖南省儿童医院泌尿外科、核型为45,X/46,XY嵌合体患儿为研究对象,患儿均行人绒毛膜促性腺激素(human chorionic gonadotrophin,HCG)刺激试验、腹腔镜探查、膀胱镜探查及双侧性腺活检术;经过多学科联合会诊(multidisciplinary team,MDT),部分患儿行性腺切除及外阴整形手术。收集患儿临床、实验室检查结果以及随访特征等资料。结果本研究共纳入23例45,X/46,XY嵌合体患儿,初诊年龄为1岁4个月(10个月,11岁11个月)。8例患儿出生后社会性别为女性,且都保持女性性别抚养,外部男性化评分(external masculinization score,EMS)为1(0,3)分。15例出生后社会性别为男性,11例保持男性性别抚养,EMS为4.5(2.7,8.4)分;4例按中性性别抚养,EMS为3.7(3.0,8.6)分。性染色体结构异常(B=3.499,β=0.555,P=0.019)是生殖器异常的严重程度的影响因素,嵌合比例(B=-3.454,β=-0.297,P=0.189)和HCG刺激试验(B=0.162,β=0.051,P=0.800)均不是生殖器异常严重程度的影响因素。按性腺类型分类:完全性性腺发育不良3例,混合性性腺发育不良12例,部分性腺发育不良6例,双侧正常睾丸1例,卵睾型性发育异常(differences of sex development,DSD)1例。8例患儿选择维持女性性别抚养,其中3例接受了双侧性腺切除和生殖器整形手术。11例选择维持男性性别抚养的患儿,其中4例混合性性腺发育不良的患儿接受了单侧条纹性腺切除术,1例部分性腺发育不良的患儿接受了单侧发育不良睾丸切除术,1例卵睾型DSD患儿接受了右侧卵巢切除术。在随访期间,有2例患儿自发进入了青春期。13例患儿接受了生殖器整形手术,其中9例保留了子宫和阴道结构,未出现任何并发症。结论尿道下裂合并隐睾症和残留苗勒氏管�ObjectiveTo analyze the clinical data of children with 45,X/46,XY mosaicism,summarize their clinical characteristics,and explore surgical treatment methods for their gonads and residual Müllerian duct tissue.MethodsThis study is a retrospective analysis of children diagnosed with 45,X/46,XY mosaicism at the Department of Urology,Hunan Children's Hospital,from March 2011 to July 2023.Clinical and laboratory examination results,as well as follow-up data,were collected and analyzed.All patients underwent human chorionic gonadotrophin(HCG)stimulation tests,laparoscopic exploration,cystoscopy,and bilateral gonadal biopsies.After a multidisciplinary team(MDT)consultation,some patients underwent gonadal excision and vulvar reconstructive surgery.ResultsA total of 23 children with 45,X/46,XY mosaicism were included in this study,with an average initial diagnosis age of 1 year and 4 months(ranging from 10 months to 11 years and 11 months).8 patients were assigned female at birth and were raised as females,with an external masculinisation score(EMS)of 1(range:0 to 3).15 patients were assigned male at birth,with 11 raised as males and an EMS of 4.5(range:2.7 to 8.4);4 patients were raised as gender-neutral,with an EMS of 3.7(range:3 to 8.6).Sex chromosome structural abnormalities(B=3.499,β=0.555,P=0.019)were the influencing factors for the severity of genital abnormalities,while mosaicism ratio(B=-3.454,β=-0.297,P=0.189)and HCG stimulation test(B=0.162,β=0.051,P=0.800)were not influencing factors for the severity of genital abnormalities.According to gonadal types,there were 3 cases of complete gonadal dysgenesis,12 cases of mixed gonadal dysgenesis,6 cases of partial gonadal dysgenesis,1 case of bilateral normal testes,and 1 case of ovotesticular differences of sex development(DSD).8 children chose to maintain female gender identity,of which 3 underwent bilateral gonadectomy and genital reconstruction surgery.11 children chose to maintain male gender identity,including 4 with mixed gonadal dysgenesis who underwent unil

关 键 词：45 X/46 XY 性发育异常 性腺 苗勒氏管 外科手术 儿童 

分 类 号：R72[医药卫生—儿科]