Thymoma in a patient with klinefelter syndrome. Case report

被引：0

作者：

Carriel Mancilla, Jorge ^{[1
]}

Leone, Antonio ^{[2
]}

Borreguero Martinez, Encarnacion ^{[1
]}

Ruiz Artacho, Pedro ^{[3
]}

Tornero Romero, Fernando ^{[1
]}

Calvo Manuel, Elpidio ^{[1
]}

机构：

[1] Hosp Univ Clin San Carlos, Serv Med Interna, Madrid, Spain

[2] Hosp Univ Clin San Carlos, Serv Farmacol Clin, Madrid, Spain

[3] Hosp Univ Clin San Carlos, Serv Urgencias, Madrid, Spain

来源：

REVISTA MEDICA DE CHILE | 2019年 / 147卷 / 04期

关键词：

Genetics; Medical; Klinefelter Syndrome; Mediastinal Diseases; Neoplasms; Germ Cell and Embryonal; TUMORS;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：518 / 521

页数：4

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