广州地区98例女性月经异常患者的细胞遗传学分析

Cytogenetic analysis of 98 female patients with abnormal menstruation in Guangzhou

目的探讨月经异常患者异常染色体核型的分布情况及性染色体异常对性腺发育的影响,为月经异常患者的诊断、鉴别诊断和治疗提供思路。方法 98例来自我院妇科、生殖中心的患者,均有月经异常表现,包括:原发闭经、继发闭经、月经不调和稀发。对这些患者进行常规妇科检查、妇科超声及内分泌功能检查,同时采用植物血凝素刺激后人体外周血淋巴细胞培养与染色体G显带核型分析技术进行细胞遗传学分析。结果 98例月经异常患者中,检出染色体核型异常者19例,总异常率为19.4%(19/98);其中,异常核型患者数量分布前两位分别是45,X/47,XXX嵌合体(7例,36.8%)和纯合45,X(5例,26.3%),其他异常核型主要包括X染色体结构异常(3例,15.8%)、46,XY(性逆转综合征,2例,10.5%)及常染色体平衡易位(1例,5.3%)。结论性染色体异常是导致月经异常的重要原因之一,对这些患者进行细胞遗传学分析,再结合临床特征和其他实验室相关检查,可明确病因,为临床及早对症治疗打下坚实的基础。

Objective：To analyze the distribution of abnormal chromosomal karyotypes in the female patients with abnormal menstruation and the correlation between sex chromosomal abnormalities and gonad development,which may provide new ideas to diagnose,differential diagnosis and treatment of this disease. Methods：The data were from 98 female patients clinically diagnosed with abnormal menstruation,including primary amenorrhea,secondary amenorrhea,irregular menstruation and oligomenorrnea,from gynecology and reproductive medicine department. Definitely diagnosis were making with routine gynecological examination,gynecologic ultrasonography,and endocrine examination. Meanwhile,standard G-banded chromosome analysis was performed using PHA-stimulated peripheral blood lymphocytes from the patients according to standard procedures. Results：19 in 98 of the patients were detected with abnormal chromosomal karyotypes,and the overall abnormal rate was 19.4%（19/98）. The top two chromosomal abnormalities related to abnormal menstruation were mosaic 45,X/47,XXX（7 cases,36.8%） and homozygous 45,X（5 cases,26.3%）,followed by structural abnormalities of the X chromosome（3 cases,15.8%）,46,XY（sex reversal syndrome,2 cases,10.5%） and autosomal balanced translocation（1 cases,5.3%）. Conclusions：Sex chromosomal abnormality is one of the most important causes of abnormal menstruation. Combineing cytogenetic study,clinical features and other laboratory tests of the patients,can more easily to pinpoint the pathogenesis,which lay a solid foundation for early treatment of the patients.