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目的分析混合性性腺发育不良(mixed gonadal dysgenesis,MGD)伴外生殖器畸形患儿的临床特征及其与分子遗传学的相关性。方法收集2002年1月至2014年12月因外生殖器畸形就诊于上海交通大学医学院附属瑞金医院儿内科5例患儿病例资料,其染色体为45,X/46,XY嵌合体或包含45,X/46,XY的其他嵌合体。分析其临床特征并进行相关辅助检查,采用多重连接依赖式探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)检测外周血DNA中Y染色体微缺失情况及性发育过程相关基因拷贝数变化。结果 5例MGD患儿临床表型不一,其中3例为男性抚养,2例女性抚养。4例存在不同片段及数量的Y染色体微缺失,5例均未检测到WNT4、NR5A1、SOX9、Cxorf21的拷贝数异常。结论 MGD临床表型谱广泛,外生殖器畸形严重程度不一。临床表型和外周血染色体核型嵌合比例之间无明显关联。Y染色体微缺失在MGD中的发生率很高,微缺失的范围大小可能和外生殖器的男性化程度正相关。
Objective To analyze the clinical features of mixed gonadal dysgenesis (MGD) with genital malformations and its relationship with molecular genetics. Methods The data of 5 cases of pediatric internal medicine from Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine from January 2002 to December 2014 were collected. The chromosomes were 45, X / 46, XY chimera or 45, X / 46, XY other chimeras. The clinical features of the patients were analyzed and the related auxiliary examinations were performed. The multiplexed ligation-dependent probe amplification (MLPA) was used to detect the changes of Y chromosome microdeletions in peripheral blood DNA and the copy number of genes related to sexual development. Results Five patients with MGD had different clinical phenotypes, of whom 3 were male and 2 were female. In 4 cases, there were different fragments and numbers of Y chromosome microdeletions, and none of the 5 cases detected the abnormal copy number of WNT4, NR5A1, SOX9 and Cxorf21. Conclusion MGD has a wide range of clinical phenotypes, with varying degrees of genital malformations. There was no significant correlation between the clinical phenotype and the proportion of karyotype chimerism in peripheral blood. The incidence of Y chromosome microdeletion in MGD is very high. The extent of microdeletions may be positively related to the masculinity of external genitalia.