Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome.
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.
Ozbek
Mustafa
M
Department of Endocrinology, Saglik Bakanligi Etlik Ihtisas Hastanesi.
Oztürk
M Akif
MA
Ureten
Kemal
K
Ceneli
Ozcan
O
Erdogan
Mehmet
M
Haznedaroglu
Ibrahim C
IC
D000328:Adult; D001157:Arterial Occlusive Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D012307:Risk Factors; D013739:Testosterone / Q000009:adverse effects; D019851:Thrombophilia / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*
D013739:Testosterone; D042965:Methylenetetrahydrofolate Reductase (NADPH2)