46,XY性发育异常35例病因及临床分析

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。

Etiology and clinical analysis of 35 cases of 46,XY disorders of sex development.

Objective To investigate the etiology and clinical manifestation of 46,XY disorders of sex development(DSD). Method The clinical data were analysed,DNA fragments of related genes from parts of patients were directly sequenced to detect gene mutation. Results The social genders of 25 cases were male,and the others were female.Including 3 cases of androgen insensitivity syndrome,3 cases of ovotesticular DSD,8 cases of 5 α-reductase deficiency,2 cases of Kallmann syndrome and 2 cases of 46,XY pure gonadal dysgenesis.Sequencing analysis of SRD5A2 revealed 8 cases with mutations.One case carried a mutation of AR and another one had a mutation of FGFR1. Conclusions Early diagnosis and treatment of 46,XY DSD is greatly import,which can help to reduce the impact of the disease on patient's physiology and psychology.Direct DNA sequencing analysis of candidate genes would be valuable to identify etiology.