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[特纳综合征的表型与自然月经。关于一例45,X综合征病例]

[Turner's syndrome phenotype and spontaneous menstruation. Apropos of a case of 45 X syndrome].

作者信息

Magnin G, Rethore M Q, Bethoux J P, Darbois Y, Barrat J

出版信息

J Gynecol Obstet Biol Reprod (Paris). 1977 Dec;6(8):1095-100.

PMID:608927
Abstract

The authors report a new case where a women of 28 years of age started periods spontaneously in spite of having the phenotype of Turner's syndrome and a 45 X karyotype in her lymphocytes and fibroblasts. When she had been stimulated with Clomiphene it was even possible to prove that she had ovulated and produced a functional corpus luteum. No Barr bodies were to be found in the cells from her ovaries and the karotype did not suggest a mosaic which would normally explain this sort of state. All the same, it is difficult to see how any part of the basic follicles can persist in cases of monosomy 45 X if there is no mosaicism.

摘要

作者报告了一个新病例,一名28岁女性尽管具有特纳综合征的表型,且其淋巴细胞和成纤维细胞的核型为45,X,但仍自发出现月经。当用克罗米芬刺激她时,甚至有可能证明她已排卵并形成了功能性黄体。在她卵巢的细胞中未发现巴氏小体,并且核型也未提示存在通常可解释这种情况的嵌合体。即便如此,如果不存在嵌合体,那么在45,X单体型的病例中,很难理解原始卵泡的任何部分是如何留存下来的。

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