Thymoma in a patient with klinefelter syndrome. Case report

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...

Full description

Saved in:
Bibliographic Details
Published in:Revista medíca de Chile 2019-04, Vol.147 (4), p.518
Main Authors: Carriel-Mancilla, Jorge, Leone, Antonio, Borreguero-Martínez, Encarnación, Ruiz-Artacho, Pedro, Tornero-Romero, Fernando, Calvo-Manuel, Elpidio
Format: Article
Language:Spanish
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0717-6163