细胞遗传学检查在诊断闭经患者中的作用

目的 分析闭经患者的染色体核型,了解闭经与染色体异常的相关性,为临床治疗提供科学依据。方法 对158例闭经患者进行外用血淋巴细胞染色体棱型分析。结果 158例患者中有染色体异常者40例,占受检者25.3％(40/158)。原发性闭经患者中染色体异常检出率26.6%(33/124);继发性闭经患者中检出率为20.6％(7/34),染色体异常类型包括:X染色体数目异常13例,结构异常5例,嵌合体11例,含Y染色体13例。结论 性染色体决定着女性性腺及生殖器官的发育,性染色体异常是导致闭经的重要原因。对于闭经患者常规行染色体检查是必要的。

The role of cytogenetics examine in diagnose of amenorrhea.

Objective: To analyze the chromosome karyotype of amenorrhea, understand the relationship between amenorrhea and aberrations of chromosome, provide an important basis for clinic therapy. Methods: The chromosome karyotype of peripheral lymphocytes in 158 case with amenorrhea. Results: 40 patients of them were aberrations of chromosome ,were 25.3% in all cases(40/158) .Of which,13 cases were aberrations of X chromosomal number,5 cases were aberrations of chromosomal structure,11 leases were mosaic, and other 13 cases had Y chromosome. Abnormal chromosome rate was 26.6% (33/124) in primary amenorrhea, and 20.6% (7/34) in secondary amenorrhea. Conclusion: Sexual chromosome decide the development of the sexual gland and reproductive organ. Aberrations of sexual chromosome was one important causes of amenorrhea. It is necessary to analyze chromosome karyotype in patient with amenorrhea.