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Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

Department of Endocrinology, Saglik Bakanligi Etlik Ihtisas Hastanesi

M. Akif Öztürk, MD

Department of Rheumatology, Gazi University School of Medicine, makifozturk{at}yahoo.com

Kemal Ureten, MD

Department of Rheumatology, Saglik Bakanligi Ankara Egitim ve Arastirma Hastanesi

Ozcan Ceneli, MD

Department of Hemotology Saglik Bakanligi Etlik Ihtisas Hastanesi

Mehmet Erdogan, MD

Department of Endocrinology, Ege University, Department of Endocrinology, Izmir, Turkey

Ibrahim C. Haznedaroglu, MD

Department of Hematology, Hacettepe University School of Medicine, Ankara

Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states have been shown in KS patients complicated with venous thrombosis as isolated case reports. Arterial thrombotic events had not been previously reported in KS. In this study, a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy is presented. He was homozygous for the A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene.

Key Words: Klinefelter syndrome • arterial thrombophilia • MTHFR gene mutation

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