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[罕见的异染色体异常:男性XX综合征合并乳腺癌。初步思考]

[Rare heterochromosomal anomaly: male XX syndrome in association with adenocarcinoma of the breast. Preliminary considerations].

作者信息

Giammarini-Barsanti A, Zennaro W

出版信息

Minerva Med. 1979 Feb 25;70(9):679-84.

PMID:571584
Abstract

A case of a male patient with an XX chromosome picture is presented. This anomaly is extremely rare and accompanied, as in the reported case, by morphological and structural alterations of the testicles: tubular fibrosis and germinal aplasia; disturbances of hormone secretion: FSH, LH, testosterone and 17-ketosteroid values were nearer those normally found in females; sex chromatin. The case was rendered more interesting by the simultaneous presence of adenocarcinoma of the breast, which is 100 times less common in males. Statistical evidence is cited for the proposition that this neoplasia has an underlying genetic and endocrine component.

摘要

本文报告一例染色体核型为XX的男性患者。这种异常极为罕见,如本病例所示,伴有睾丸的形态和结构改变:小管纤维化和生精上皮发育不全;激素分泌紊乱:促卵泡激素、促黄体生成素、睾酮和17 - 酮类固醇值更接近女性的正常水平;性染色质。该病例因同时存在乳腺癌而更具趣味性,男性乳腺癌的发病率比女性低100倍。文中引用了统计学证据来支持这一肿瘤具有潜在遗传和内分泌成分的观点。

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