岭南现代临床外科2025，Vol.25Issue(4)：250-257,8.DOI:10.3969/j.issn.1009-976X.2025.04.007
一例先天性尿道下裂患儿的致病原因探讨
Exploration of the pathogenic causes of a child with congenital hypospadias
程兵 1彭小芳 2萧晓琴 2廖荣煌 2孙熹 2梁立阳3
作者信息
- 1. 中山大学孙逸仙纪念医院病理科,广州 510220
- 2. 中山大学孙逸仙纪念医院细胞分子诊断中心,广州 510220
- 3. 中山大学孙逸仙纪念医院儿科神经内分泌科,广州 510220
- 折叠
摘要
Abstract
This article provides a detailed account of the complete diagnosis and treatment process of a child with congenital hypospadias and growth retardation,and thoroughly analyzes the pathogenic factors that led to the clinical phenotype of this child.The article systematically reviews the entire process of the child's visit due to hypospadias,including the results of specialized physical examinations,various laboratory test data,and the implementation of subsequent surgical treatment;at the same time,it dynamically tracks the imaging examination results,laboratory biochemical and endocrine-related detection indicators,as well as the detection data of whole exome sequencing(Whole Exome Sequencing,WES)and chromosomal microarray analysis(Chromosomal Microarray Analysis,CMA)after the surgery.Through the systematic analysis of the above detection results,combined with the latest literature in related fields at home and abroad,a comprehensive judgment is made,and finally,it is determined that this child is a patient with SRY-negative 46,XX developmental abnormality caused by duplication of the upstream enhancer region of the SOX9 gene.This study aims to report this case of SRY-negative 46,XX develop-mental abnormality combined with hypospadias and growth retardation caused by duplication of the upstream enhancer region of the SOX9 gene,to deeply explore the association between the clinical phenotype and genotype,provide specific case references for the precise diagnosis of similar complex developmental abnormalities,and emphasize the key role of comprehensive genetic testing in the diagnosis and treatment process.关键词
先天性尿道下裂/SOX9基因/性发育异常Key words
congenital hypospadias/SOX9 gene/disorders/differences of sex development(DSD)分类
医药卫生引用本文复制引用
程兵,彭小芳,萧晓琴,廖荣煌,孙熹,梁立阳..一例先天性尿道下裂患儿的致病原因探讨[J].岭南现代临床外科,2025,25(4):250-257,8.
