非嵌合Klinefelter综合征精液生精细胞学检查和Y染色体微缺失分析  

Detection of spermatogenic cells in semen and analysis on Y chromosome microdeletion in patients with non-gomphosis Klinefelter syndrome

作　　者：张钰旻[1] 王瑞雪[1] 周南[1] 张志红[1] 杨潇[1] 刘睿智[1] 张利群[1] 

机构地区：[1]吉林大学第一医院生殖医学中心,吉林长春130021

出　　处：《中国妇幼保健》2011年第9期1392-1394,共3页Maternal and Child Health Care of China

基　　金：吉林省科技发展规划项目(20080444-3)

摘　　要：目的:分析Klinefelter综合征(Klinefelter syndrome,KS)患者精液生精细胞学检查结果和Y染色体无精症基因(Azoospermia factor,AZF)微缺失情况。方法:对27例非嵌合KS患者及对照组27例生育正常男性进行血清卵泡刺激素(FSH)、黄体生成激素(LH)、睾酮(T)浓度测定和染色体核型检查,并对其精液进行生精细胞学检查。采用多重PCR筛查Y染色体微缺失。结果:非嵌合KS患者血清FSH和LH浓度明显高于对照组,T浓度低于对照组。生精细胞学检查显示:非嵌合KS患者中1例属于精子阶段;1例初级精母细胞阶段;8例偶见精子;其余17例未见精子及各级生精细胞。对照组均可见精子及各级生精细胞。27例非嵌合KS患者与对照组均未检出AZF微缺失。结论:精液细胞学检查能很好地反映非嵌合KS患者生精功能,可作为辅助生殖前参考诊断;Y染色体AZF缺失可能不是引起非嵌合KS患者生精障碍的遗传因素,AZF缺失与KS之间存在不确定的关系。Objective：To analyze the detection results of spermatogenic cells in semen and the microdeletion condition of azoospermia factor of Y chromosome in patients with Klinefelter syndrome. Methods：27 cases with non-gomphosis Klinefelter syndrome and 27 normal men were selected,the levels of serum follicle stimulating hormone（FSH）,luteinizing hormone（LH） and testosterone were detected,chromosome karyotyping was performed;and their semen samples received detection of spermatogenic cells;polymerase chain reaction（PCR） was performed to screen Y chromosome microdeletion. Results：The serum levels of FSH and LH in non-gomphosis Klinefelter syndrome group were significantly higher than those in control group,but the serum level of testosterone in non-gomphosis Klinefelter syndrome group was significantly lower than that in control group;the results of spermatogenic cells detection showed that one case was at sperm level,one case was at primary spermatocyte level,8 cases were at rare sperm level;the other 17 cases had no sperm and spermatogenic cell at all levels in their semen samples;sperms and spermatogenic cells at all levels could be found in semen samples of control group;no azoospermia factor microdeletion of Y chromosome was found in the two groups. Conclusion：Seminal spermatogenic cells examination can reflect the spermatogenesis in testis of patients with non-gomphosis Klinefelter syndrome,which can provide reference for clinical diagnosis before assisted reproduction;azoospermia factor microdeletion of Y chromosome may be not one of the genetic factors inducing dyszoospermia of patients with non-gomphosis Klinefelter syndrome,the relationship between azoospermia factor microdeletion and Klinefelter syndrome is uncertain. 【基金】

关 键 词：KLINEFELTER综合征 AZF微缺失 精液细胞学检查 生精功能 

分 类 号：R596.1[医药卫生—内科学]