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First published on December 26, 2007, doi:10.1177/1076029607304750

Clinical and Applied Thrombosis/Hemostasis 2008;14:369.

A more recent version of this article appeared on July 1, 2008
© 2007 SAGE Publications

Article

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

Mustafa Ozbek, MD, M. Akif Ozturk, MD*, Kemal Ureten, MD, Ozcan Ceneli, MD, Mehmet Erdogan, MD, and Ibrahim C. Haznedaroglu, MD

Saglik Bakanligi Eltik Ihtisas Hastanesi

* To whom correspondence should be addressed. E-mail: makifozturk{at}yahoo.com.


   Abstract
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.


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