Suppr超能文献

[克氏综合征患者的胸腺瘤。病例报告]

[Thymoma in a patient with klinefelter syndrome. Case report].

作者信息

Carriel-Mancilla Jorge, Leone Antonio, Borreguero-Martínez Encarnación, Ruiz-Artacho Pedro, Tornero-Romero Fernando, Calvo-Manuel Elpidio

机构信息

Servicio de Medicina Interna, Hospital Universitario Clínico San Carlos, Madrid, España.

Servicio de Farmacología clínica, Hospital Universitario Clínico San Carlos, Madrid, España.

出版信息

Rev Med Chil. 2019 Apr;147(4):518-521. doi: 10.4067/S0034-98872019000400518.

Abstract

Klinefelter syndrome (47, XXY in most cases) is a frequently underdiagnosed chromosomal anomaly associated with multiple comorbidities in adult life. Patients with Klinefelter syndrome have a higher risk of cancer. Specifically, these patients have a higher risk for mediastinal germ cell tumors. It is estimated that 8% of male patients with mediastinal tumors have Klinefelter. We report a 42-years-old male who suffered recurrent respiratory infections. During the study, a mediastinal mass was found, whose pathological study disclosed a type B thymoma. The patient had a history of infertility, high stature, gynecomastia, obesity with gynecoid distribution of body fat and testicular atrophy. A karyotype was requested (47, XXY), confirming the diagnosis of Klinefelter syndrome.

摘要

克兰费尔特综合征(大多数病例为47, XXY)是一种常被漏诊的染色体异常疾病,与成年期多种合并症相关。克兰费尔特综合征患者患癌风险较高。具体而言,这些患者患纵隔生殖细胞肿瘤的风险更高。据估计,8%的纵隔肿瘤男性患者患有克兰费尔特综合征。我们报告一例42岁男性患者,该患者反复出现呼吸道感染。在研究过程中,发现了一个纵隔肿块,病理研究显示为B型胸腺瘤。该患者有不育、身材高大、乳腺增生、肥胖且体脂呈女性分布以及睾丸萎缩的病史。进行了核型分析(47, XXY),确诊为克兰费尔特综合征。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验