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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 results of spermatogenic cytology and microdeletions of Azoospermia factor (AZF) in patients with Klinefelter syndrome (KS). Methods: 27 cases of non-chimeric KS patients and control group, 27 cases of normal fertility of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T) concentration and chromosome karyotype examination, and its sperm Spermatogenic cytology. Multiplex PCR screening for Y chromosome microdeletions. Results: The serum concentrations of FSH and LH in non-chimeric KS patients were significantly higher than those in the control group, and the concentrations of T were lower than those in the control group. Spermatogenic cytological examination showed: 1 case of non-chimeric KS belongs to the sperm stage; 1 case of spermatocyte stage; 8 cases of occasional sperm; the other 17 cases did not see sperm and spermatogenic cells at all levels. Control group can be seen sperm and spermatogenic cells at all levels. There were no AZF microdeletions detected in 27 non-chimeric KS patients and controls. Conclusion: Sperm cytology can well reflect the function of spermatogenesis in non-chimeric KS patients, which can be used as a reference for diagnosis of preimplantation. Loss of AZF on Y chromosome may not be the genetic factor of spermatogenic dysfunction in non-chimeric KS patients. AZF deletion and There is an indeterminate relationship between KS.