190例闭经患者的细胞遗传学分析

目的对190例闭经患者进行染色体核型分析,通过细胞遗传学的研究,在染色体水平对闭经病因进行探讨,为此类患者的诊治提供依据。方法对190例闭经患者的外周血淋巴细胞培养,收获,制片,烤片,胰酶消化,Giemsa染色后,使用染色体自动扫描系统,设定每例样本扫描2张片80个中期分裂相,常规分析计数20~30个中期分裂相,分析5个核型,对出现两个相同异常核型的加倍分析计数至100个核型,分析增加至10核型。结果在190例闭经患者中核型为46,XX 127例（66.84%）,异常核型63例（33.16%）。包括X染色体异常的53例（84.12%）,其中数目异常的39例（73.58%）,X染色体结构异常的14例（26.42%）、X-Y染色体异常的4例、46,XY女性的3例、常染色体异常的1例、X常染色体易位的2例、多态性3例。79.32%身材矮小的闭经患者X染色体异常,16.67%闭经患者生殖器官不健全,另有4.02%由于其他病因引起。结论染色体异常是闭经的主要病因之一,因此细胞遗传学染色体核型分析是诊断闭经不可缺少的检查方法,对闭经的诊治有重要的临床指导意义。

Cytogenetic studies on 190 cases with amenorrhea analysis

Objective. To analyse karyotype and investigate the pathological causes of amenorrhea on a cytogenetic level. Methods.. 190 blood samples of amenorrhea patients were collected, and after procedures of incubation, preparation, baking, pancreatin digestion and Giemsa staining. Conventionally, 20-30 metaphase were observed, but only 5 karyotypes were analyzed. For special sample with two identically abnormal karyotype, up to 100 metaphases were observed and 10 karyotypes were analyzed. Results- There were 63 abnormal karyotypes （33.16%） out of 190 patients, including abnormal chromosome numbers （39 cases, 73.58%） , abnormal chromosome structure （14 cases, 26.42%） , complete testicle femalization chromosome, etc. Conclusion： Chromosomal abnormality is a major cause of amenorrhea, therefore cytogenetic karyotype analysis is an indispensable diagnostic method of amenorrhea.