无精子症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结果分析

Y chromosome microdeletions,chromosome karyotypes and reproductive hormones in patients with azoospermia and severe oligozoospermia

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。

Objective: To study the correlation of azoospermia and severe oligozoospermia with Y chromosome microdeletions, chromosome karyotype and reproductive hormones in male infertility patients. Methods: We collected semen samples from 63 patients with azoospermia,49 with severe oligozoospermia and 60 men with normal semen parameters,and determined the incidence of Y chromosome microdeletions,chromosome karyotypes and the levels of reproductive hormones. Results: The incidence rate of Y chromosome microdeletions was 11. 11% in the azoospermia and 8. 16% in the severe oligozoospermia patients,as compared with 0 in the normal controls( P < 0. 05). The rate of chromosome abnormalities was 9. 52% in the azoospermia group,with statistically significant differences from the severe oligozoospermia and normal control men( both 0)( P < 0. 05). The levels of FSH and LH were significantly higher in the azoospermia( [20. 41 ± 19. 34] IU / L and [11. 44 ± 9. 48] IU / L) and the severe oligozoospermia patients( [8. 88 ± 7. 04] IU / L and [6. 78 ± 3. 85] IU / L) than in the normal males( [3. 88 ± 2. 21] IU / L and [4. 63 ± 1. 51] IU / L)( P < 0. 05). Conclusion: Examinations of genetics and reproductive hormones are necessary for infertile males with azoospermia and severe oligozoospermia,which may contribute to early diagnosis and treatment.