无精子症遗传学病因及其与内分泌的关系  

Genetic defect in Chinese azoospermic patients and their relationship with reproductive hormones

作　　者：周慧[1] 朱继望[1] 李红钢[1] 唐艳平[2] 

机构地区：[1]华中科技大学同济医学院计划生育研究所/生殖医学中心,武汉430030 [2]华中科技大学同济医学院基础医学院遗传教研室

出　　处：《中华医学遗传学杂志》2009年第4期427-430,共4页Chinese Journal of Medical Genetics

基　　金：国家“十五”科技攻关项目（2004BA720A33-01）;湖北省科技厅研究与开发项目（2008BCC007）

摘　　要：目的分析我国无精子症患者遗传学病因，并探讨其与生殖激素变化的关系。方法489例无精子症患者，分别用常规染色体G显带和多重聚合酶链反应进行染色体核型分析和Y染色体微缺失检测，用化学发光法测定各组血清中卵泡刺激素、黄体生成素、睾酮和催乳素水平。结果489例无精子症患者中共检出染色体畸变102例，占20．86％，其中Klinefelter综合征73例，占异常总数的71．57％，其他性染色体异常13例（占12．75％），常染色体异常16例（占15．69％）。有58例（11．86％）发生Y染色体微缺失，各区发生率构成比由高到低依次为：AZFc区37例（占63．8％），AZFb＋C区11例（占19．0％），AZFa＋b＋C区6例（占10．3％），AZFa、AZFb区各2例（各占3．4％）。无精子症患者与正常生育人群比较，卵泡刺激素、黄体生成素显著升高，睾酮值降低，其差异有统计学意义（P〈0．01）；尤其是Klinefeher综合征及Y染色体AZFa＋b＋C区缺失组激素水平变化显著，与其他无精子症患者相比，差异有统计学意义（P〈0．05）。结论染色体异常及Y染色体微缺失在我国的发生情况与其他国家大多数报道基本一致，其中，Klinefelter综合征及Y染色体AZFa＋b＋C区缺失对内分泌造成严重影响。Objective To investigate the incidence of abnormal karyotypes and Y chromosome microdeletion in Chinese men with azoospermia, and the relationship with reproductive hormones. Methods Four hundred and eighty nine cases of azoospermic patients and 20 fertile men were studied. Karyotypes and Y chromosome microdeletion were analyzed by G-banding and mutiplex polymerase chain reaction, respectively. Chemiluminescene immunoassay technique was applied to measure the serum levels of follicle- stimulating hormone（ FSH ）, luteinizing hormone （ LH）, testosterone （ T）, and prolactine （PRL）. Results Chromosome abnormalities were found in 102 out of 489 azoospermic patients （20.86%）, among them 86 （84. 31%） cases had sex chromosome abnormalities, with 73 cases being Klinefelter syndrome. Y chromosome microdeletions were detected in 58 （11.86%） cases out of the 489 patients, and deletion of the AZFc region was the leading group （63. 8% of all deletions）, followed by AZFbc （19. 0%）, AZFabc （10.3%）, AZFb or AZFa （3.4%）. FSH, LH levels were significantly increased and T level was decreased in azoospermic patients compared with the fertile men group （P〈0.01）. Furthermore, in the azoospermic patients with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels were increased more significantly, and were statistically different from azoospermic patients with normal karotype or without Y chromosome microdeletion （P〈0.05）. Conclusion In the Chinese men with azoospermia, the incidence of abnormal karyotype and Y chromosome microdeletion were similar to those described previously in other populations. In azoospermia with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels increased markedly indicating the protracted stimulation of gonadotrophs due to lack of androgen feedback.

关 键 词：无精子症 Y染色体微缺失 核型分析 生殖激素 

分 类 号：R686[医药卫生—骨科学]