46,XY女性表型性发育障碍12例分子病因与临床研究  

Molecular etiology and clinical study of 12 cases of 46,XY female DSD

作　　者：董文科[1] 秦雪艳[1] 陆文丽[1] 王伟[1] 董治亚[1] 肖园[1] 王秀民[1] 倪继红[1] 王德芬[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院儿内科,上海200025

出　　处：《中国实用儿科杂志》2013年第10期764-768,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的探讨46,XY女性性发育障碍(DSD)患儿的分子病理与临床关联。方法采用分子生物学候选基因分析策略,对2009—2012年上海交通大学医学院附属瑞金医院12例46,XY女性表型的DSD患儿进行雄激素受体基因(AR)和5α-还原酶2基因(SRD5A2)的扩增测序,结合临床综合分析缺陷基因的临床特征。结果所有患儿临床均证实存在睾丸发育,无子宫和卵巢,且无身材矮小。6例(50%)患儿存在5种AR变异,其中4种为新突变类型,临床诊断为完全性雄激素不敏感综合征(CAIS)。2例(17%)患儿存在SRD5A2突变,血睾酮与双氢睾酮比值(T/DHT)>90,临床诊断为5α-还原酶2缺乏症。4例(33%)患儿未证实AR、SRD5A2基因变异。结论本组病例基因检测证实46,XY女性DSD的常见病因是AR基因缺陷,临床诊断符合CAIS,但应注意鉴别5α-还原酶缺乏症。本文报道了AR基因的4种新突变类型。Objective To verify the etiology and genetic defects of 46, XY DSD with female genitalia. Methods A to- tal of 12 children diagnosed or suspected with 46, XY female DSD in Ruijin Hospital, Shanghai Jiaotong University School of Medicine from 2009 to 2012 were enrolled for this study . The full coding regions and intron-exon boundaries of candidate genes, such as AR and SRDSA2 , were amplified with PCR. And then the relevance was analyzed between their genotypes and phenotypes. Results All the patients were not short stature and their gonads were testis tissues. Ovaries or uterus were not found in any patient. Five kinds of AR gene mutations were detected from 6 patients, four be- ing novel mutations. Two patients with high ratio of serum T/DHT were verified with deficiency of 5α- reductase. The mo- lecular etiology of 4 cases remained unknown. Conclusion 46, XY DSD with female genitalia is mainly caused by AR gene mutations, which are regarded as the primary molecular defects of CAIS. But 5α-reductase type 2 deficiency should be distinguished.Four novel AR gene mutations were reported in this article.

关 键 词：46 XY性发育异常 完全性雄激素不敏感综合征 5α-还原酶2缺乏症 AR基因 SRD5A2基因 

分 类 号：R72[医药卫生—儿科]