Carriel-Mancilla Jorge, Leone Antonio, Borreguero-Martínez Encarnación, Ruiz-Artacho Pedro, Tornero-Romero Fernando, Calvo-Manuel Elpidio
Servicio de Medicina Interna, Hospital Universitario Clínico San Carlos, Madrid, España.
Servicio de Farmacología clínica, Hospital Universitario Clínico San Carlos, Madrid, España.
Rev Med Chil. 2019 Apr;147(4):518-521. doi: 10.4067/S0034-98872019000400518.
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.
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。