Peng Liucheng,Chen Yifu,Tong Fangyun,et al.Clinical characteristics and surgical treatment analysis of children with 45,X/46,XY mosaicism[J].Journal of Clinical Pediatric Surgery,,():1042-1048.[doi:10.3760/cma.j.cn101785-202407003-008]
Clinical characteristics and surgical treatment analysis of children with 45,X/46,XY mosaicism
- Keywords:
- 45; X/46; XY; Differences of Sex Development; Gonads; Müllerian Duct; Surgical Procedures; Operative; Child
- 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 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. 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 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 unilateral testicular excision,1 with partial gonadal dysgenesis who underwent unilateral dysplastic testis excision,and 1 ovotesticular DSD patient who underwent 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 after comprehensive evaluation,and genital reconstruction surgery may be considered for some patients.For children assigned male gender,retaining Müllerian duct structures is possible.
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Memo
收稿日期:2024-7-3。
基金项目: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)
通讯作者:赵夭望,Email:yw508@sina.com