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,,():541-545.[doi:10.3760/cma.j.cn101785-20260331-00147]
Correlation between clinical phenotypes and genotypes of 46,XY disorders of sex development and its clinical significance
- Keywords:
- Disorder of Sex Development; 46; XY; Symptoms and Signs; Gene Expression; Relevance Research
- 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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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