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目的；探讨无精子症患者染色体异常、性激素水平的变化及其与发病的关系。方法：对512例无精子症患者同时进行染色体G显带及性激素5项检测。结果：染色体异常169例，占总例数的33％。其中性染色体异常156例．占92．3％，其中又以Klinefelter’s综合征为多，137例，占性染色体异常的87．8％；常染色体异常13例，占2．5％。其中罗伯逊异位7例，占常染色体异常的53．8％；无精子症患者不论染色体核型异常与否，均有性激素水平的改变。睾酮（TT）明显降低，与正常均值对照有非常显著性差异（P＜0．01）：促卵泡素（FSH）、促黄体生成素（LH）、雌二醇（E2）、垂体泌乳素（PRL）均升高，与正常均值对比（P＜0．01）核型异常与核型正常者比较，TT降低更为显著，LH虽均升高，但前者低于后者，两组间比较（P＜0．01）。结论：512例无精子症患者中，染色体异常发生率为1／3，全部有性激素水平的改变。提示无精子症与性激素水平及染色体异常有密切关系。
Objective To investigate the chromosomal abnormalities in patients with azoospermia, sex hormone levels and its relationship with the incidence. Methods: 512 cases of azoospermia in patients with simultaneous detection of G-banding and sex hormone. Results: 169 cases of chromosomal abnormalities, accounting for 33% of the total number of cases. One of 156 cases of chromosomal abnormalities. Accounting for 92.3%, of which Klinefelter’s syndrome and more, 137 cases, accounting for 87.8% of chromosomal abnormalities; autosomal abnormalities in 13 cases, accounting for 2.5%. Among them, Robertson ectopic 7 cases, accounting for 53.8% of autosomal abnormalities; azoospermia patients regardless of chromosomal abnormalities or not, have sex hormone levels change. Testosterone (TT) was significantly decreased compared with the normal mean control (P <0.01): FSH, LH, E2, PRL, (P <0.01), the karyotypes were significantly lower than those with normal karyotypes, LH was higher but the former was lower than the latter <0.01). CONCLUSIONS: Among 512 azoospermia patients, the incidence of chromosomal abnormalities is 1/3, and all of them have sex hormonal changes. Tip azoospermia and sex hormone levels and chromosomal abnormalities are closely related.