一例先天性尿道下裂患儿的致病原因探讨

doi:10.3969/j.issn.1009-976X.2025.04.007

摘要/Abstract

摘要： 本文详细报道了1例先天性尿道下裂合并生长发育迟缓患儿的完整诊疗过程,并深入剖析了引发该患儿临床表型的致病因素。文中系统梳理了该患儿因尿道下裂就诊的全流程,包括专科体格检查结果、各项实验室检测数据及后续手术治疗的实施情况;同时动态追踪了患儿术后的影像学检查结果、实验室生化与内分泌相关检测指标,以及全外显子测序（WES）和染色体微阵列分析（CMA）的检测数据。通过对上述检测结果的系统分析,结合国内外相关领域前沿文献展开综合研判,最终明确该患儿为SOX9基因上游增强子区域重复所致的SRY阴性46,XX性发育异常患者。本研究旨在报道这一由SOX9基因上游增强子区域重复引发的SRY阴性46,XX性发育异常合并尿道下裂、生长发育迟缓的病例,深入探讨其临床表型与基因型的关联,为类似复杂性发育异常的精准诊断提供具体案例参考,并强调综合遗传学检测在诊疗过程中的关键作用。

关键词: 先天性尿道下裂, SOX9基因, 性发育异常

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 developmental 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.

Key words: congenital hypospadias, SOX9 gene, disorders/differences of sex development （DSD）

中图分类号:

R681.5

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(04): 250-257.

CHENG Bing, PENG Xiao-fang, XIAO Xiao-qin, LIAO Rong-huang, SUN Xi, LIANG Li-yang. Exploration of the pathogenic causes of a child with congenital hypospadias[J]. Lingnan Modern Clinics In Surgery, 2025, 25(04): 250-257.

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