Síndrome de Klinefelter diagnosticado en un adulto a raíz del estudio de infección respiratoria recurrente y masa mediastínica. Caso clínico

• Autores: Jorge A. Carriel Mancilla, Antonio Leone, Encarnación Borreguero-Martínez, Pedro Ruiz Artacho, Fernando Tornero Romero, Elpidio Calvo Manuel
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 147, Nº. 4, 2019, págs. 518-521
• Idioma: español
• Títulos paralelos:
  • Thymoma in a patient with klinefelter syndrome. Case report
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• Resumen

  • 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.