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Analysis of thrombophilic genetic mutations in patients with Sheehan`s syndrome: is thrombophilia responsible for the pathogenesis of Sheehan`s syndrome?

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Abstract

The gene mutations of Factor V R506Q (FV-Leiden), prothrombin (FII G20210A), methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C and PAI-1 4G/5G are well-established risk factors for thrombosis. We aimed to investigate the prevalence of these gene mutations and their possible impact on the development of pathogenesis in patients with Sheehan’s syndrome (SS). 40 female patients with SS compared to a control group of 45 healthy women. The presence of FV-Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G gene mutations were assessed by polymerase chain reaction analysis with a light cycler analyzer. An odds ratio of greater than one is considered to increase the risk of SS disease as found in Factor V Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G polymorphism, as follows respectively: 1.13, 1.85, 6.00, 8.14 and 1.45. MTHFR C677T and MTHFR A1298C polymorphism were found significantly higher in SS patients than the control group (P < 0.001), however FV-Leiden, FII G20210A and PAI-1 4G/5G polymorphism showed no significant difference (P > 0.05). The level of plasma total homocysteine (tHcy) was significantly higher in patients with SS than in the control group (P < 0.001). We suggest that the genetic mutations of FV-Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C and PAI-1 4G/5G increase the risk of SS. Also, high plasma tHcy levels may be a risk factor for the development of SS.

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Authors and Affiliations

  1. Department of Endocrinology, Dicle University School of Medicine, Diyarbakir, Turkey

    Deniz Gokalp, Alpaslan Tuzcu & Gulistan Alpagat

  2. Endocrinology Department of Izmir Ataturk Education and Research Hospital, Dicle University School of Medicine, Diyarbakir, Turkey

    Mithat Bahceci

  3. Departmens of Hematology, Dicle University School of Medicine, Diyarbakir, Turkey

    Orhan Ayyildiz & Murat Yurt

  4. Department of Biostatics, Dicle University School of Medicine, Diyarbakir, Turkey

    Yusuf Celik

  5. Endokrinoloji Bolumu, Dicle Universitesi Tip Fakultesi, 21280, Diyarbakir, Turkey

    Deniz Gokalp

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  1. Deniz Gokalp
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  2. Alpaslan Tuzcu
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  3. Mithat Bahceci
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  4. Orhan Ayyildiz
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  7. Gulistan Alpagat
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Correspondence to Deniz Gokalp.

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Gokalp, D., Tuzcu, A., Bahceci, M. et al. Analysis of thrombophilic genetic mutations in patients with Sheehan`s syndrome: is thrombophilia responsible for the pathogenesis of Sheehan`s syndrome?. Pituitary 14, 168–173 (2011). https://doi.org/10.1007/s11102-010-0276-x

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