MTHFR C 677T mutation and 4G/5G PAI-1 polymorphism in patient with polycystic ovarian syndrome

Coll Antropol. 2007 Sep;31(3):919-21.

Abstract

Combined oral contraceptives (Ocs) are the most commonly used androgen suppressors and the treatment of choice for menstrual dysfunction in women with polycystic ovarian syndrome (PCOs). Although OCs have remained popular due to their convenience and effectiveness, there have been continuing concerns about adverse effects. The OCs have long been known to incur and increased risk of venous thromboembolism especially in carriers of common inherited thromboembolic defects. Factor V Leiden, prothrombin factor G20210A polymorphism, MTHFR (C677T) mutation and 4G/5G polymorphism of the PAI-1 gene account for the majority of thromboembolic events in association with oral contraceptive use. The aim of the article is to present woman with unrecognized inherited thrombophilia who was treated with OCs due to PCOs signs.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Contraceptives, Oral, Combined* / adverse effects
  • Contraindications
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hyperhomocysteinemia / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Polycystic Ovary Syndrome / drug therapy*
  • Thromboembolism / chemically induced
  • Thromboembolism / genetics
  • Thromboembolism / prevention & control
  • Thrombophilia / genetics*

Substances

  • Contraceptives, Oral, Combined
  • Plasminogen Activator Inhibitor 1
  • Methylenetetrahydrofolate Reductase (NADPH2)