Department of Medical and Surgical Critical Care, Thrombosis Center, University of Florence, Azienda Ospedaliero-Universitaria Careggi, Florence, Italy.
Thromb Res. 2012 May;129(5):e185-8. doi: 10.1016/j.thromres.2012.02.012. Epub 2012 Mar 15.
Unexplained infertility represents one of the most common diagnoses in fertility care. Attention is being paid to the association between inherited thrombophilia and infertility causes. In this study we investigated the prevalence of inherited thrombophilia according to infertility causes.
We studied Prothrombin gene G20210A mutation, Factor V Leiden, deficiencies in protein S and C and antithrombin in 930 Caucasian infertile women referred to Fertility Center of the Department of Sciences for Woman and Child's Health, University of Florence, of whom 230 with unexplained, 195 female and 283 male infertility, and in 240 women who have conceived naturally without hormonal stimulation therapy.
A significant relationship between inherited thrombophilia [OR 95%CI 1.97 (1.05-3.68), p = 0.03] and unexplained infertility was observed, whereas no association between thrombophilia and female and male infertility was found. Significantly higher prevalence of prothrombin gene mutation in unexplained infertile women in comparison to that observed in fertile women was observed (5.7% vs 2.1% p = 0.04); the prevalence of the other thrombophilia determinants was higher, even if not significantly, in the unexplained infertile group.
This study demonstrates the relationship between inherited thrombophilia and unexplained infertility, thus suggesting the contribution of genetic components in modulating unexplained infertility, behind anovulation, male and tubal factor.
不明原因不孕是生育保健中最常见的诊断之一。人们越来越关注遗传性血栓形成倾向与不孕原因之间的关系。在这项研究中，我们根据不孕原因调查了遗传性血栓形成倾向的患病率。
我们研究了凝血酶原基因 G20210A 突变、因子 V Leiden、蛋白 S 和 C 以及抗凝血酶缺乏症在佛罗伦萨大学妇女儿童健康科学系生育中心就诊的 930 名白种不孕女性中的发生率，其中 230 名原因不明，195 名女性和 283 名男性不孕，240 名女性未经激素刺激治疗自然受孕。
遗传性血栓形成倾向[比值比 95%置信区间 1.97（1.05-3.68），p = 0.03]与不明原因不孕之间存在显著关系，而血栓形成倾向与女性和男性不孕之间无关联。与生育女性相比，不明原因不孕女性的凝血酶原基因突变明显更为常见（5.7%比 2.1%，p = 0.04）；尽管不显著，但在不明原因不孕组中，其他血栓形成倾向的发生率更高。
本研究表明遗传性血栓形成倾向与不明原因不孕之间存在关系，这表明遗传成分在调节排卵障碍、男性和输卵管因素以外的不明原因不孕中起作用。
