Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism
نویسندگان
چکیده
منابع مشابه
Factor V Leiden, MTHFR C677T and Prothrombin Gene Mutation G20210A in Iranian Patients with Venous Thrombosis
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
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BACKGROUND Perinatal stroke is a common cause of neurologic disability. Being clinically under-recognized, its true incidence is not known. Maternal thrombophilia is likely to be a predisposing factor. To date, a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is missing. This study was undertaken to assess the frequency of cerebral abnormalitie...
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C entral retinal vein occlusion (CRVO) in the young is also known as papillophlebitis and is a rare presentation.1 Retinal vein occlusion has been known to be associated with many systemic conditions.1,2 Association of hyperhomocysteinemia with retinal vein occlusion was reported in the literature.2-4 There was controversy, however, over whether there was correlation between methylenetetrahydro...
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Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and angiotensin converti...
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In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In th...
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ژورنال
عنوان ژورنال: Case Reports in Endocrinology
سال: 2020
ISSN: 2090-6501,2090-651X
DOI: 10.1155/2020/6945124