2例46,XX性发育睾丸疾病报道并文献复习  

46,XX testicular disorder of sex development:Report of 2 cases and review of the literature

作　　者：张华俊[1,2] 杨晓玉[3] 金保方[1,2] 周作民[4] 

机构地区：[1]南京中医药大学男科研究所,江苏南京210046 [2]南京中医药大学第三附属医院男科,江苏南京210001 [3]南京医科大学第一附属医院临床生殖医学中心,江苏南京210029 [4]南京医科大学江苏省生殖医学重点实验室,江苏南京210029

出　　处：《中华男科学杂志》2010年第4期345-348,共4页National Journal of Andrology

基　　金：江苏省普通高校研究生科研创新计划(CX09S_038Z)~~

摘　　要：目的:探讨46,XX性发育睾丸疾病患者的表型、病因病机及其分子生物学特点。方法:对2例46,XX性发育睾丸疾病患者进行病史采集,盆腔B超扫描,染色体核型分析,PCR扩增法检测SRY、YRRM1、DYS240、DAZ基因。结果:两例患者均表现为小睾丸,无精子,第二性征较差。盆腔B超探查未发现女性内生殖器官。两患者染色体核型均为46,XX,且SRY(+),其中1例YRRM1(+)。结论:对性发育异常患者进行染色体核型分析和SRY基因检测,有利于了解该类患者的遗传学病因,为明确诊断和治疗提供科学依据。Objective：To investigate the phenotype,pathogenesis and molecular biological features of 46,XX testicular disorder of sex development.Medthods：We obtained the history of 2 patients with 46,XX testicular disorder of sex development,examined the cavitas pelvis by type-B ultrasonography,analyzed the karyotype of the chromosome,and detected the genes SRY,YRRM1,DYS240 and DAZ by PCR amplification.Results：Microrchidia,azoospermia and maldevelopment of secondary sex characteristics were observed in both of the patients,but ultrasonography revealed no female internal genitals.Their chromosome gender was karyotyped as 46,XX,with the SRY gene positive in both,but the YRRM1 gene positive in only one of the cases.Conclusion：Chromosome karyotyping and detection of the SRY gene for patients with abnormal sex development can give us an insight into the genetic pathogenesis and provide us with scientific evidence for the diagnosis and treatment of the condition.

关 键 词：46 XX性发育睾丸疾病 SRY YRRM1 

分 类 号：R697.2[医药卫生—泌尿科学]