Zhang Wanyu,Ye Weijing,Shi Jinxiu,et al.Genotype and clinical phenotype analysis of 110 46,XY disorders of sex development in children[J].Journal of Clinical Pediatric Surgery,,18():1036-1042.[doi:10.3969/j.issn.1671-6353.2019.12.010]
Genotype and clinical phenotype analysis of 110 46,XY disorders of sex development in children
- Keywords:
- Sexual Development; Genotype; Hypospadias
- CLC:
- R726.9;R691.1;R394
- Abstract:
- Objective To detect the pathogenic genes of 110 patients with 46,XY disorders of sex development (DSD) by a targeted panel of next-generation sequencing (NGS) and examine the genotype and clinical phenotype of hypospadias patients.Methods Clinical data of 110 46,XY DSD patients at Affiliated Ruijin and Renji Hospitals from 2017 to 2018 were reviewed and analyzed.We performed sequencing analysis for 110 patients with hypospadias of unknown etiology for screening for pathogenic genes.Results A total of 16 children had genetic variations involving 13 mutation sites of 6 genes.Five different SRD5A2 mutations (p.Q6X,p.L20P,p.G203S,p.R227Q & p.P251S) were detected in 8 cases and one novel mutation (p.P251S) was identified.Four different AR pathogenic mutations(p.Q58L,p.A871V,p.R608Q & p.A597T)were detected in four cases.One PROKR2 heterozygous mutation (p.W178S) was found in 2 cases,including 1 case of SRD5A2 gene mutation.One ZFPM2 heterozygous mutation (p.M703L) was detected in one child with Tetralogy of Fallot.There were BMP4 gene heterozygous variation (p.H251Y) (n=1) and CHD7 heterozygous variation (p.T730I) (n=1).And 16 patients with gene mutation presented a variety of clinical phenotypes,including hypospadias with small penis (n=9),hypospadias,small penis & cryptorchidism (n=6) and hypospadias with cryptorchidism (n=1).Conclusion Hypospadias with small penis and/or cryptorchidism may indicate genetic mutations.The mutation rate of hypospadias gene is 14.5% (16/110) and SRD5A2 and AR are two most common mutated genes.Despite low detection rates of ZFPM2,PROKR2,BMP4 and CDD7,they should not be ignored.
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Memo
收稿日期:2019-02-20。
基金项目:浦东新区科技发展基金项目（编号：Pkj-z04）
通讯作者:董治亚,Email:dzy831@126.com