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目的研究男性睾丸生精功能障碍与染色体异常核型及多态性关系。方法对299例睾丸生精功能障碍患者进行染色体核型分析和精液常规检测,并对其结果进行对比分析。结果染色体异常57例(19.1%),染色体多态性62例(20.7%)。染色体异常在无精子症组中为34.5%,在少精子症组中为13.0%;染色体多态性在无精子症组中为32.1%,在少精子症组中为16.3%,两组之间差异均有统计学意义。核型异常主要表现为克氏征和平衡易位,其中克氏征占35.1%,平衡易位占19.3%;无精子症主要以克氏征为主占69.0%;少精子症以平衡易位为主占39.3%。睾丸生精功能障碍患者染色体多态性的类型主要包括小Y、大Y、长臂次缢痕增加、随体多态性、9号染色体倒位。其中Y染色体多态性占所有多态性的64.5%,在无精子症组占63.0%,在少精子症组占65.7%。次缢痕增加和随体多态性分别占所有多态性的11.3%,9号染色体倒位占12.9%。结论染色体核型异常及多态性与男性睾丸生精功能障碍有密切关系。
Objective To study the relationship between male testicular spermatogenic dysfunction and chromosomal abnormalities karyotypes and polymorphisms. Methods 299 cases of testicular spermatogenic dysfunction in patients with chromosomal karyotype analysis and routine testing, and the results were compared. Results Chromosomal abnormalities in 57 cases (19.1%), chromosome polymorphism in 62 cases (20.7%). Chromosomal abnormalities were 34.5% in the azoospermia group and 13.0% in the oligospermia group; 32.1% in the azoospermia group and 16.3% in the oligospermatosis group, and between the two groups The differences were statistically significant. Karyotypes were mainly characterized by Krypton’s syndrome and equilibrium translocations, of which Kirschner sign was 35.1% and balance translocation was 19.3%. Azoospermia was predominantly Crohn’s syndrome (69.0%); oligospermia was used to balance translocation Mainly accounted for 39.3%. The types of chromosome polymorphism in patients with testicular spermatogenic dysfunction include small Y, large Y, increased long arm secondary marks, along with the polymorphism of chromosome 9 inversions. Among them, Y chromosome polymorphism accounted for 64.5% of all polymorphisms, 63.0% in azoospermia group and 65.7% in oligospermia group. Secondary marks and interspersed polymorphisms accounted for 11.3% of all polymorphisms, chromosome 9 inversions accounted for 12.9%. Conclusion Chromosome karyotype abnormalities and polymorphisms are closely related to male testicular spermatogenic dysfunction.