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目的:研究男性无精子和严重少精子症患者Y染色体微缺失、染色体核型和性激素的相关性。方法:收集无精子症患者63例、严重少精子症患者49例和精液参数正常生育男性60例,抽取外周血分别检测Y染色体微缺失、染色体核型和性激素水平。结果:63例无精子症患者中,7例Y染色体微缺失,微缺失的发生率为11.11%(7/63);49例严重少精子症患者中,4例Y染色体微缺失,微缺失的发生率为8.16%(4/49),与正常精液组(未发现Y染色体微缺失)比较均有统计学差异(P<0.05)。无精子症患者中,染色体核型异常率为9.52%(6/63),而正常生育男性精液组和严重少精子症患者中均未发现异常染色体核型。与正常生育男性精液组[FSH(3.88±2.21)IU/L;LH(4.63±1.51)IU/L]比较,无精子症[FSH(20.41±19.34)IU/L;LH(11.44±9.48)IU/L]和严重少精子症[FSH(8.88±7.04)IU/L;LH(6.78±3.85)IU/L]不育患者FSH和LH水平显著升高(P<0.05)。结论:无精子症和严重少精子症不育患者有必要进行遗传学和性激素检查,便于早期诊断和治疗。
AIM: To investigate the association of Y chromosome microdeletions, chromosomal karyotypes and sex hormones in male azoospermia and severe oligospermia patients. Methods: 63 cases of azoospermia, 49 cases of severe oligozoospermia and 60 normal fertile men with semen parameters were collected. Peripheral blood was collected for detection of Y chromosome microdeletion, chromosomal karyotype and sex hormone levels. Results: Of the 63 cases of azoospermia, 7 cases of Y chromosome microdeletions, the incidence of microdeletions was 11.11% (7/63); 49 cases of severe oligospermia patients, 4 cases of Y chromosome microdeletions, microdeletions The incidence was 8.16% (4/49), which was significantly different from that in normal semen group (no microdeletion of Y chromosome was found) (P <0.05). In patients with azoospermia, the abnormality rate of karyotype was 9.52% (6/63), but no abnormal karyotype was found in normal fertility sperm group and severe oligospermia patients. Compared with normal sperm group [FSH (3.88 ± 2.21) IU / L and LH (4.63 ± 1.51) IU / L], azoospermia [FSH (20.41 ± 19.34) IU / L; LH (11.44 ± 9.48) IU / L] and severe oligozoospermia [FSH (8.88 ± 7.04) IU / L; LH (6.78 ± 3.85) IU / L] were significantly increased (P <0.05). Conclusion: Azoospermia and severe oligospermia infertility patients need to carry out genetic and sex hormone tests, to facilitate early diagnosis and treatment.