[1]米锦文,丁彦钧,吴大城,等.46,XY性发育异常临床表型与遗传学特征的相关性及临床价值研究[J].临床小儿外科杂志,2026,(06):541-545.[doi:10.3760/cma.j.cn101785-20260331-00147]
　Mi Jinwen,Ding Yanjun,Wu Dacheng,et al.Correlation between clinical phenotypes and genotypes of 46,XY disorders of sex development and its clinical significance[J].Journal of Clinical Pediatric Surgery,2026,(06):541-545.[doi:10.3760/cma.j.cn101785-20260331-00147]
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46,XY性发育异常临床表型与遗传学特征的相关性及临床价值研究

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 期数: 2026年06 页码: 541-545 栏目: 专题·性发育异常的诊治 出版日期: 2026-06-26
Title:
Correlation between clinical phenotypes and genotypes of 46,XY disorders of sex development and its clinical significance
作者:
米锦文;  丁彦钧;  吴大城;  崔孔孔;  洪一帆;  温晟;  张德迎;  华燚;  林涛;  刘星;  吴盛德;  魏跃新;  魏光辉
重庆医科大学附属儿童医院泌尿外科 儿童少年健康与疾病国家临床医学研究中心 儿童发育疾病研究教育部重点实验室 结构性出生缺陷与器官修复重建重庆市重点实验室, 重庆 400014
Author(s):
Mi Jinwen;  Ding Yanjun;  Wu Dacheng;  Cui Kongkong;  Hong Yifan;  Wen Sheng;  Zhang Deying;  Hua Yi;  Lin Tao;  Liu Xing;  Wu Shengde;  Wei Yuexin;  Wei Guanghui
Department of Urology, Affiliated Children’s Hospital, Chongqing Medical University, National Clinical Research Center for Children’s Health and Disorders, Ministry of Education Key Laboratory of Children’s Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing 400014, China
关键词:
性发育异常; 46; XY; 症状与体征; 基因表达; 相关性研究
Keywords:
Disorder of Sex Development;  46; XY; Symptoms and Signs; Gene Expression; Relevance Research
DOI:
10.3760/cma.j.cn101785-20260331-00147
摘要:
目的 探讨46,XY性发育异常(disorders of sex development,DSD)的临床表型与基因型之间的关联。方法 收集2020年1月至2026年1月于重庆医科大学附属儿童医院泌尿外科确诊的101例46,XY DSD患儿临床及基因检测资料,根据基因检测结果进行分组,比较不同基因型患儿的临床表型。结果 101例DSD患儿基因检测阳性率为78.2%(79/101),辅助诊断率为56.4%(57/101)。基因检测阳性组(79例)诊断年龄中位数为2.0岁,其中重度尿道下裂、双侧隐睾及单纯性小阴茎的发生率分别为70.89%(56/79)、60.76%(48/79)和8.86%(7/79);阴性组(22例)诊断中位年龄5.9岁,上述疾病发生率分别为27.27%(6/22)、36.36%(8/22)和40.91%(9/22)。在阳性组中,AR、SRD5A2及先天性低促性腺激素性腺功能减退症相关基因变异的检出率分别为25.3%(20/79)、22.8%(18/79)和15.2%(12/79),相关外生殖器男性化评分均值依次为2.28、5.08、9.46分;另检出SAMD9基因新发错义变异c.2407G>C(p.E803Q),评估为"2类-可能致病"。结论 重度尿道下裂及双侧隐睾患儿基因诊断年龄早、阳性检出率更高;单纯性小阴茎患儿基因检测阴性更常见。本地区AR基因变异最常见,其临床表型女性化程度最高。SAMD9可能为46,XY DSD的候选致病基因。
Abstract:
Objective To explore the correlation between clinical phenotypes and genotypes in 46,XY disorders of sex development (DSD). Methods Clinical and genetic testing data were retrospectively reviewed for 101 children of 46,XY DSD from January 2020 to January 2026.They were grouped based upon genetic testing results and their clinical phenotypes compared. Results The positive rate of genetic testing was 78.2%(79/101) with a diagnostic yield of 56.4%(57/101).In gene-positive group (n=79),the median diagnostic age was 2.0 years.The rates of severe hypospadias,bilateral cryptorchidism and isolated micropenis were 70.89%(56/79),60.76% (48/79) and 8.86% (7/79),respectively; in gene-negative group (n=22),the median diagnostic age was 5.9 years with corresponding rates of 27.27%(6/22),36.36%(8/22) and 40.91%(9/22).Among all enrolled children,the detection rates of AR,SRD5A2 and congenital hypogonadotropic hypogonadism-related gene variants were 25.3%(20/79),22.8%(18/79) and 15.2%(12/79),respectively.The mean external masculinization score values were 2.28,5.08 and 9.46,respectively.Additionally,a novel missense variant in SAMD9,c.2407G>C (p.E803Q),was identified as "class 2-likely pathogenic". Conclusion Severe hypospadias and bilateral cryptorchidism are associated with an earlier age at genetic diagnosis and a higher rate of positive genetic testing,whereas isolated micropenis is more common in gene-negative children.As the most prevalent in this region,AR gene variants are associated with the most feminized clinical phenotype.And SAMD9 may serve as a candidate pathogenic gene for 46,XY DSD.

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备注/Memo

收稿日期:2026-3-31。
基金项目:重庆市科卫联合医学科研项目(2022ZDXM033)
通讯作者:魏光辉,Email:ghwei@cqmu.edu.cn

更新日期/Last Update: 1900-01-01