Two siblings with familial subclinical hyperthyroidism with unknown etiology

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dc.contributor.authorÖzsu, Elif
dc.contributor.authorYeşiltepe Mutlu, Gül
dc.contributor.authorÇizmecioğlu, Filiz Mine
dc.contributor.authorBircan, Rifat
dc.contributor.authorHatun, Şükrü
dc.date.accessioned2022-05-11T14:28:22Z
dc.date.available2022-05-11T14:28:22Z
dc.date.issued2017
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractSubclinical hyperthyroidism is defined as low or undetectable concentration of serum thyrotrophin (TSH) with normal free triiodothyronine (FT3) and free thyroxine (FT4) levels. 1). Familial subclinical hyperthyroidism is a rare entity. Activating mutations of the TSH receptor (TSH-R) gene cause genetic hyperthyroidism. Here we present a family with more than one affected individual. All family members were investigated for TSH-R mutation. No mutation was detected, while a A459 polymorphism was found in one of the cases and three other siblings. Despite the clinical and biochemical findings suggesting a TSH-R mutation, a reasonable cause could not be detected. Epigenetic and environmental modifiers, including iodine intake, should be considered in families with mutation negative, familial non auto-immune hyperthyroidism (FNAH)
dc.identifier.endpage156
dc.identifier.issn2147-0634
dc.identifier.issn2147-0634
dc.identifier.issue1en_US
dc.identifier.startpage154
dc.identifier.trdizinidTWpZek56a3lNZz09
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TWpZek56a3lNZz09
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6802
dc.identifier.volume6
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorBircan, Rifat
dc.language.isoen
dc.relation.ispartofMedicine Science
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenel ve Dahili Tıp
dc.titleTwo siblings with familial subclinical hyperthyroidism with unknown etiology
dc.typeArticle

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