月经紊乱患者的细胞遗传学分析

目的 分析原发闭经、继发闭经及月经稀发患者的染色体核型,探讨性染色体异常对性腺发育的影响。方法 将176例患者分为两组,其中82例原发闭经组,94例继发闭经及月经稀发组。每例行外周血培养,制片及G显带,并行染色体核型分析。结果 176例患者发现性染色体异常38例,异常检出率为29.6％(38/176),其中原发闭经组33例,异常检出率为40.2％(33/82);继发闭经及月经稀发组检出性染色体异常5例,异常检出率为5.3％(5/94);两组异常检出率差异有显著性(P<0.05)。性染色体异常大体上分为三大类:含Y染色体(15例),X染色体数目异常(18例),X染色体结构异常(5例),嵌合体均以45,X系为主,共10例。结论 两条完整的染色体是女性性腺发育及正常卵巢功能所必须,性染色体异常是原发闭经的主要原因之一,常规细胞遗传学检查是必要的;继发闭经及月经稀发也不应忽视此项检查。

Cytogenetic studies in patients with menstruation disorders

Objective To analyze the chromosomal karyotypes of women with primary /secondary amenorrhea and /or oligomenorrhea and to study the etiological role of sex chromosomal abnormalities in female gonadal developments.Methods 176 cases were divided into two groups, 82 women with primary amenorrhea as the first group, 94 women with oligomenorrhea and /or secondary amenorrhea as the second group. Peripheral blood was cultured, harvested, and G banded respectively in every case, and their chromosomal karyotypes were analyzed.Results 38/176 cases with abnormal karyotype (29.6% ) were found; while 33/82 (40.2%) cases in the first group with amenorrhea and 5/94 (5.3%) cases in the second group with oligomenorrhea and / or secondary amenorrhea.The chromosome aberrations could be grossly classified into 3 main types, namely, presence of a Y chromosome (15cases), X-chromosome aneuploidies (18cases), structural anormalies of the X-chromosome (5cases ) .Mosaics were observed mainly in association with a 45, X cell line. Conclusions Two normal X chromosomes is necessary for female gonadal genesis resulting good ovarian function. Sex chromosome aberrations is one of the chief factors of primary amenorrhea. Routine cytogenetic examination is necessary in patient with primary amenorrhea. Our results also suggest a cytogenetic examination in patients with primary amenorrhea as well as in patients with oligomenorrhea and /or seconadary amenorrhea.