浙江大学学报（医学版）2025，Vol.54Issue(6)：746-753,8.DOI:10.3724/zdxbyxb-2025-0146
Y染色体微缺失在先天性生殖系统疾病男性患儿中的分布及对睾丸发育的影响
Association between Y chromosome microdeletions and tes-ticular development in male pediatric patients with congenital reproductive system diseases
摘要
Abstract
Objective:To analyze the distribution of Y chromosome azoospermia factor(AZF)microdeletions and their association with testicular development in male pediatric patients with congenital reproductive system diseases.Methods:A prospective cohort study was conducted on pediatric patients admitted to the Department of Urology of Shanghai Children's Hospital from November 2021 to December 2023.The observation group included boys with hypospadias,cryptorchidism,or disorders of sex development(DSD),while the control group comprised boys with phimosis,indirect inguinal hernia,or hydrocele.Blood samples were collected for AZF microdeletion analysis using multiplex PCR to detect 15 sequence-tagged sites.Testicular ultrasound was performed to record testicular position and volume.Propensity score matching(PSM)was used to balance the groups.After matching,testicular volume differences were assessed.Stratified analyses compared testicular volume among children with AZF microdeletions,the control group,and children without AZF microdeletions in the observation group.Results:A total of 493 children were enrolled(observation group:463;control group:30).The observation group consisted of 372 cases of hypospadias,71 cases of cryptorchidism,and 20 cases of DSD.No Y chromosome microdeletions were detected in the control group.Four boys in the observation group had AZF microdeletions:one with cryptorchidism(AZFc+AZFd),one with isolated hypospadias(AZFc),and two with DSD(one with AZFb+AZFc+AZFd and one with AZFa).Ultraso-nography was performed for 888 testes.After PSM,testicular volume was significantly smaller in the observation group than that in the control group(P<0.01).Stratified analysis revealed a trend towards smaller testicular volumes in children with AZF microdeletions compared to the other two groups.Conclusions:The prevalence of Y chromosome microdeletions is higher in male children with congenital reproductive system diseases compared to the general population,particularly in those with DSD.Hypospadias,cryptorchidism,DSD,and AZF microdeletions may be associated with delayed testicular development in these children.关键词
无精子症因子/Y染色体微缺失/隐睾/尿道下裂/性发育异常/睾丸体积Key words
Azoospermia factor/Y chromosome microdeletions/Cryptorchidism/Hypospadias/Disorders of sexual development/Testicular volume分类
医药卫生引用本文复制引用
梁妍,吕逸清,黄轶晨,李嫔,许无恨,陈方..Y染色体微缺失在先天性生殖系统疾病男性患儿中的分布及对睾丸发育的影响[J].浙江大学学报（医学版）,2025,54(6):746-753,8.基金项目
上海市儿童医院临床研究培育专项(2021YLYM07)This study was supported by Shanghai Children's Hospital Clinical Research Cultivation Program(2021YLYM07). （2021YLYM07）
