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目的分析35例儿童46,XY性发育异常(disorders of sex development,DSD)的病因、临床特征,以期对临床工作有所帮助。方法回顾分析35例46,XY DSD患儿的临床资料,总结其临床特点及其它辅助检查,部分患儿行相关基因突变检测。结果 35例患儿中,社会性别男性25例,女性10例。其中3例完全性雄激素不敏感综合征(complete androgen insensitivity syndrome,CAIS)、3例卵睾型DSD、8例5α-还原酶缺乏、2例Kallmann综合征、2例46,XY单纯性腺发育不全、余17例患儿诊断为小阴茎及隐睾10例、尿道下裂7例。8例患儿存在SRD5A2突变,存在AR和FGFR1突变者各1例。结论 46,XY性发育异常的病因复杂,及早诊断和治疗对患儿的身心健康至关重要,基因检测可帮助明确病因。
Objective To analyze the etiology and clinical features of 35 cases of children with Disorder of Sex Development (DSD) in order to help clinical work. Methods Retrospective analysis of 35 cases of 46, XY DSD in children with clinical data, to summarize its clinical features and other auxiliary examination, some children related gene mutation detection. Results Among 35 children, 25 were male and 10 female. There were 3 cases of complete androgen insensitivity syndrome (CAIS), 3 cases of egg-testicular DSD, 8 cases of 5α-reductase deficiency, 2 cases of Kallmann’s syndrome, 2 cases of 46, XY simple gonadal dysplasia , More than 17 cases of children diagnosed with small penis and cryptorchidism in 10 cases, 7 cases of hypospadias. There were 8 cases of SRD5A2 mutation in children, there are 1 cases of AR and FGFR1 mutations. Conclusion 46. The etiology of XY dysplasia is complex and early diagnosis and treatment are very important for children’s physical and mental health. Genetic testing can help clarify the cause.