Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome
Makaleler > Tam Makale · 2007
Yazarlar: Mustafa OZBEK, M. Akif Ozturk, Kemal ÜRETEN, Ozcan ÇENELİ, Mehmet ERDOĞAN, İBRAHİM CELALETTİN HAZNEDAROĞLU
Clinical and Applied Thrombosis/Hemostasis, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2007, cilt 14, ss 369-371
Özet
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.