169例闭经患者的遗传学及临床研究

目的:分析闭经患者的染色体核型,探讨性染色体异常对性腺发育的影响及其与临床表现的关系。方法:对169例闭经患者进行常规妇科检查及外周血淋巴细胞染色体培养和G显带分析。结果:共检出37例性染色体异常患者,异常率为21.9%,其中X染色体数目异常16例,结构异常9例,X染色体数目异常合并结构异常5例,含Y染色体有7例。结论:性染色体异常是闭经的主要原因之一;对闭经患者进行染色体检查对确定其病因及治疗具有重要意义。

The cytogenetic and clinic studies of 169 patients with amenorrhea

Objective:To analyze the chromosomal karyotypes of the patients with amenorrhea,to discuss the correlation between sex chromosomal abnormalities and gonadal dysgenesis.Methods:169 patients were examined by routing gynecologic examination,and their peripheral blood lymphocytes were cultured for chromosome,G-banding.If necessary,endocrine and ultrasound examination were performed.Results:37 patients with chromosomal abnormalities were found,the ratio was 21.9%,including 16 patients with X-chromosome aneuploidies, 9 patients with structural abnormalities,5 patients with X-chromosome aneuploidies and structural abnormalities,7 patients karyotypes were 46,XY.Conclusion: Sex chromosome abnormalities is one of the main factors of amenorrhea.The examination of chromosome are necessary for therapy and determination of amenorrhea pathogeny.