无精症及严重少精症Y染色体微缺失和生殖激素水平研究  

Analysis of Y Chromosome Microdeletions and Gonadal Hormone Level in Severe Oligospermia and Azoospermia Men

作　　者：韩瑞玲[1] 李艳[1] 童永清[1] 汪明[1] 吴薇[1] 

机构地区：[1]武汉大学人民医院检验科,武汉430060

出　　处：《现代检验医学杂志》2014年第1期42-43,47,共3页Journal of Modern Laboratory Medicine

基　　金：国家重大技术专项资助项目（2009ZXl0004-207）;国家自然科学基金资助项目（81200389）;教育部高等学校博士学科点专项科研基金资助项目（20120141120077）.

摘　　要：目的探讨少精症及严重无精症患者与Y染色体AZF基因微缺失的关系。方法采用多重PCR方法对染色体核型正常的346例严重少精症和无精症患者进行Y染色体AZF基因微缺失检测，同时用化学发光法测定生殖激素水平。结果346例患者中发现Y染色体微缺失患者17例，缺失率为4．9％，其中262例重度少精症中Y染色体微缺失14例（5．3％），84例无精症患者中Y染色体微缺失3例（3．6％）。微缺失类型包括单纯AZFa微缺失2例；单纯AZFb微缺失3例；单纯AZFc微缺失11例；AZFb＋AZFc微缺失1例。30例精液正常者Y染色体均未发现AZF基因微缺失。生殖激素检测结果显示，Y染色体微缺失患者血清FSH，LH和T水平分别为18．76±9．62IU／L，6．05±4．48IU／L和378．54±158．98mmol／L。与无微缺失患者相比，Y染色体微缺失患者血清FSH水平显著性升高（t=3．930，P=0．006）、T水平显著性降低（t=-2．602，P=0．011）。结论Y染色体微缺失及血清生殖激素水平异常与少精症、无精症密切相关，其中AZFc缺失为常见的类型。Objective To screen for Y chromosome microdeletions in patients which were severe oligospermia or azoospermia. Methods Y chromosome microdeletions among 262 patients with severe oligospermia and 84 patients with azoospermia were analyzed by multiplex PCR method. Results Out o{ 346 patients with normal chromosome, 17 were found with Y chronlo some microdeletion, with a rate of 4.9 %, of which 14 were severe oligospermia （5.3 % ）, 3 was azoospermia （3.6 % ）. All the deletion type were 2 cases in AZFa,3 cases in AZFb, 11 cases in AZFc, 1 case in AZFb＋ AZFc. Microdeletions were not de- tected in 30 normospermic men. In gonadal hormone analysis, levels of FSH, LH and T in Y chromosome microdeletion group were 18. 76±9. 62 IU/L,6. 05±4. 48 IU/L and 378.54±158.98 mmol/L,respectively. The levels o{ FSH in Y chro- mosome microdeletion group was significantly increased （t 3. 930,P=0. 006） while levels of T was significantly decreased （t --2. 602,P=0.0l 1） compared with which in undeletion group. Conclusion Y chromosome microdeletion and the level of gonadal hormone was closely related with oligospermia and azoospermia,while most of the deletions happen in AZFc.

关 键 词：Y染色体微缺失 性激素 无精症 少精症 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学] R596.1[医药卫生—外科学]