T01-P-09 MTHFR gene and erectile dysfunction - 27/06/08
Résumé |
We present a case of a 21 year old man with erectile dysfunction (ED), who is homozygous for the thermolabile variant of 5-10 methylene-tetrahydrofolate reductase (MTHFR). This mutation arises from a C ® T transition at nucleotide 677 in the MTHFR, resulting in an alanine-to-valine substitution, and may be responsible for elevated homocysteine (HCy) concentrations, considered a risk factor for cardiovascular disease. It appears able to induce vascular damage by reducing the production of endothelial nitric oxide (NO). An HCy increase may be due to a deficiency in folic acid, Vitamin B12 or Vit. B6, or the presence of various enzyme abnormalities including thermolability of MTHFR. He had no history of urogenital infections or cryptorchidism. Testes size were normal. The patient came to our centre for an ED, resistant to sildenafil. After two months of therapy with folic acid and Vit B12, the patient recommenced therapy with 50 mg sildenafil and obtained a normal and satisfying erection. On suspension of folic acid and Vit. B12, he no longer reacted to sildenafil. We suspect that patients homozygous for the thermolabile variant of MTHFR gene may have a faulty erectile mechanism which leads to ED. We conclude that it would be useful to study MTHFR in the evaluation of ED patients non responder to sildenafil.
Le texte complet de cet article est disponible en PDF.Vol 17 - N° S1
P. 59 - janvier-mars 2008 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.