494例生精障碍患者的染色体核型分析

Analysis of chromosome karyotypes in 494 infertile men with spermaatogenesis impairment

目的通过对生精障碍患者外周血染色体核型的分析,探讨染色体核型异常与男性不育的关系。方法常规制作外周血染色体G显带,对494例生精障碍患者进行染色体核型分析。结果在494例生精障碍患者中,共检出染色体异常30例,发生率为6.07%(30/494),其中无精症、严重少精症和少精症患者的发生率分别为11.86%(21/177)、3.39%(6/177)、2.08%(3/144)。在异常染色体核型中,有13例(13/30,43.33%)发生染色体数目异常,17例(17/30,56.67%)发生染色体结构异常,其中14例(14/30,46.67%)是性染色体异常,16例(16/30,53.33%)是常染色体异常。在所有核型中,Klinefelter综合征的发生率最高,占异常核型的43.33%。结论生精障碍功能越严重,染色体异常核型检出率越高。因此有必要对生精障碍的患者进行染色体核型分析,从而帮患者找出病因,明确诊断,为进行辅助生育的不育患者提供遗传咨询,避免将缺陷传给后代。

Objective：To analyze the karyotypes of spermaatogenesis impairment patients so as to investigate the correlation of male infertility with chromosome abnormalities.Methods：Chromosome Karyotypes analyses were performed in the 494 spermaatogenesis impairment patients on peripheral blood lymphocytes according to standard methods and analyzed by chromosome G banding.Results：Totally,there were 30 cases with chromosomal construction and quantity abnormalities were detected in 494 infertile men with spermatogenesis impairment,the rate of chromosomal abnormalities were 6.07（30/494）,and were 11.86%（21/177）、3.39%（6/177）、2.08%（3/144）in azoospermia,severe oligozoospermia and oligozoospermia,respectively,including 13（13/30,43.33%）cases with chromosomal quantity abnormalities,and 17（17/30,56.67%）cases with chromosomal construction abnormalities.In these cases,14 cases（14/30,46.67%）of sex abnormal karyotype and 16例（16/30,53.33%）of autosome abnormal karyotype.The klinefelter syndrome wsa the most common disease caused by abnormal karyotype and the ration was 43.33% in all the abnormal karyotypes.Conclusion：Severe spermatogenesis failure usually means higher rate of chromosome abnormality,Karyotype analysis is important for the diagnosis and treatment of male infertility.