闭经的细胞遗传学研究

目的： 研究原发性及继发性闭经患者的染色体核型，探讨各种异常核型的分布情况。方法：取外周血做淋巴细胞培养，制备染色体，采用Ｇ显带分析或常规染色体检查。结果：被检的４９３ 例患者中，２６８ 例为原发性闭经。异常染色体核型占４１．８ ％（１１２／２６８），其中以４５，Ｘ及其各种嵌合型最多，占６５．２％ （７３／１１２）。４６，ＸＹ是原发性闭经另一类常见的异常核型，占２２．３ ％（２５／１１２）。２２５ 例继发性闭经中，异常核型占９．８％ （２２／２２５） ，其中Ｘ单体占２２．７％ （５／２２）。１５．２％ （５／３３）的Ｘ单体患者（ 原发性和继发性闭经）有月经初潮。结论：性染色体异常是导致原发性闭经的主要原因之一，亦是高促性腺素继发性闭经的主要病因。Ｘ 单体及其嵌合型是闭经的主要异常核型。Ｙ染色体的存在也可引起闭经。

Cytogenetic Investigation in Amenorrhea

Objective: To investigate the chromosomal abnormalities in amenorrhea. Methods: Chromosomes were prepared by culturing lymphocytes obtained from peripheral blood. G banding technique or regular chromosomal detecting method was employed in the research. Results: Of 493 patients, 268 were primary amenorrhea and 112(41 8%) abnormal karyotypes were found. 45,X and its mosaicisms were the most common abnormalities, which were 65 2%(73/112). 46, XY was found in 22 3%(25/112). In 225 patients with secondary amenorrhea, chromosomal abnormalities appeared in 22(9 8%),and among them 5 were 45,X(22 7%). Including both primary and secondary amenorrhea, there were 33 cases with 45,X and menarche appeared in 5(15 2%). Conclusions: One of main causes for primary amenorrhea is abnormality of sex chromosome, which may also result in secondary hypergonadotropic amenorrhea. The existence of Y chromosome is another reason of primary amenorrhea.