临床小儿外科杂志2024，Vol.23Issue(11)：1042-1048,7.DOI:10.3760/cma.j.cn101785-202407003-008
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
摘要
Abstract
Objective To 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.Methods This 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 chori-onic gonadotrophin(HCG)stimulation tests,laparoscopic exploration,cystoscopy,and bilateral gonadal biop-sies.After a multidisciplinary team(MDT)consultation,some patients underwent gonadal excision and vulvar reconstructive surgery.Results A 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 of3.7(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 ab-normalities.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 ovotes-ticular 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 unilateral testicular excision,1 with partial gonadal dysgenesis who underwent unilateral dysplastic testis excision,and 1 ovotesticular DSD patient who un-derwent right ovary excision.During follow-up,2 patients spontaneously entered puberty.13 patients underwent genital reconstruction surgery,and 9 of them retained their uterine and vaginal structures,with no complications reported.Conclusions Hypospadias combined with cryptorchidism and residual Müllerian duct structures are common phenotypes in children with 45,X/46,XY mosaicism.Gender assignment should be made cautiously af-ter comprehensive evaluation,and genital reconstruction surgery may be considered for some patients.For chil-dren assigned male gender,retaining Müllerian duct structures is possible.关键词
45,X/46,XY/性发育异常/性腺/苗勒氏管/外科手术/儿童Key words
45,X/46,XY/Differences of Sex Development/Gonads/Müllerian Duct/Surgical Proce-dures,Operative/Child引用本文复制引用
彭柳成,陈毅夫,童方运,殷波,赵夭望,胡建军..45,X/46,XY嵌合体患儿的临床特征及外科治疗分析[J].临床小儿外科杂志,2024,23(11):1042-1048,7.基金项目
临床医疗技术创新引导项目(2021SK50525) （2021SK50525）
湖南省儿童泌尿生殖疾病临床医学研究中心(2021SK4017) Hunan Provincal Clinical Medical Technology Innovation Guidance Project(2021SK50525) （2021SK4017）
Clinical Medicine Research Center for Pediatric Urogenital Diseases in Hunan Province(2021SK4017) （2021SK4017）
