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| 2例46,XX性发育睾丸疾病报道并文献复习 | |
| 引用本文： | 张华俊,杨晓玉,金保方,周作民.2例46,XX性发育睾丸疾病报道并文献复习[J].中华男科学杂志,2010,16(4). |
| 作者姓名： | 张华俊 杨晓玉 金保方 周作民 |
| 作者单位： | 1. 南京中医药大学男科研究所,江苏,南京,210046;南京中医药大学第三附属医院男科,江苏,南京,210001 2. 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 3. 南京医科大学江苏省生殖医学重点实验室,江苏,南京,210029 |
| 基金项目： | 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。 |
| 关 键 词： | 46 XX性发育睾丸疾病 SRY YRRM1 |
46,XX testicular disorder of sex development: Report of 2 cases and review of the literature |
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| ZHANG Hua-jun,YANG Xiao-yu,JIN Bao-fang,ZHOU Zuo-min.46,XX testicular disorder of sex development: Report of 2 cases and review of the literature[J].National Journal of Andrology,2010,16(4). | |
| Authors: | ZHANG Hua-jun YANG Xiao-yu JIN Bao-fang ZHOU Zuo-min |
| Abstract: | 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 pat... |
| Keywords: | 46 XX testicular disorder of sex development SRY YRRM1 |
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