Pulmonary embolism unmasking concealed Klinefelter syndrome: A case report

Klinefelter syndrome, characterized by the karyotype XXY, is the most common genetic cause of congenital hypogonadism. It commonly presents with under-developed testes, gynaecomastia, and infertility. This condition is associated with impaired fibrinolysis secondary to hypogonadism and other concurrent thrombophilic factors, resulting in a hypercoa-gulable state that predisposes to deep vein thrombosis and thromboembolic events. We report a case of a 21-year-old man who presented with a pulmonary embolism, which subsequently led to the diagnosis of Klinefelter syndrome as the underlying prothrombotic disorder.
Future research facilitating a comprehensive understanding of the pathogenesis of venous thromboembolism in the context of Klinefelter syndrome will lead to improved screening and management strategies.