630例无精子症患者染色体畸变及性激素水平

目的:探讨无精子症患者遗传学因素与性激素变化的关系。方法:采用回顾性方法对630例无精子症患者进行染色体核型分析,并采用化学发光法测定各组血清中卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)和催乳素(PRL)水平。结果:630例无精子症患者中共检出染色体畸变110例,占17.46%,其中性染色体94例,占异常总数的85.45%,常染色体异常16例,占异常总数的14.55%,性染色体数目异常中Klinefelter综合征76例,占异常总数的69.09%;性激素检测中,无论核型正常与否,FSH、LH显著升高,T值降低,其差异有统计学意义(P<0.01),核型异常组FSH、LH升高更为明显。结论:无精子症与遗传因素及性激素改变密切相关,对无精子症患者进行遗传学检查、性激素检查是十分必要的。

Chromosome aberration types and levels of sex hormones in 630 patients with azoospermia

Objective:To explore the relationship between genetic factors and changes of hormones levels in patients with azoospermia.Methods:Karyotype analysis was conducted on 630 patients with azoospermia retrospectively,and the levels of follicle stimulating hormone(FSH),luteinizing hormone(LH),testosterone(T) and prolactin(PRL) in serum were detected by chemiluminescent method.Results:Among 630 patients with azoospermia,110 cases were diagnosed as chromosome aberration,accounting for 17.46%,including 94 cases of sex chromosome abnormalities(85.45%),16 cases of euchromosome abnormalities(14.55%),76 cases of Klinefelter syndrome(69.09%).In sex hormone testing,karyotypes were normal or not,the levels of FSH and LH increased and the level of T decreased(P<0.01).The levels of FSH and LH in abnormal karyotype group increased more significantly.Conclusion:Azoospermia is related to genetic factors and changes of hormones levels,genetic and sex hormones detection are essential to patients with azoospermia.