THYROID HORMONE RESISTANCE: A CASE REPORT

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dc.authorwosidPeynirci, Hande/GRY-0605-2022
dc.contributor.authorAlmacan, B.
dc.contributor.authorOzdemir, N.
dc.contributor.authorGurkan, H.
dc.contributor.authorGul, S.
dc.contributor.authorGuldikere, S.
dc.contributor.authorHekimsoy, Z.
dc.date.accessioned2024-06-12T11:16:25Z
dc.date.available2024-06-12T11:16:25Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBackground. Thyroid hormone resistance (RTH) is defined as a decrease in response to thyroid hormones in the target tissue. Most patients present with nonspecific findings. In this article, we aimed to represent a 22-yearold female patient who presented with palpitation, fatigue, and heat intolerance. She was thought to have thyroid hormone resistance and her genetic examination revealed NM_001128177.1 (THR beta): c.1034G > A (p.Gly345Asp) pathogenic variation in the THR beta gene. Case report. A 22-year-old female patient presented with complaints of fatigue, heat intolerance and palpitations. She was taking Propranolol twice daily at admission. Her family history revealed hypothyroidism in her grandmother. Her physical examination results were as follows: height 160 cm, weight 65 kg, body mass index 25.4 kg/m(2), body temperature 36.5 degrees C, respiratory rate 18/min, heart rate 86 beats/min, blood pressure 120/80 mmHg. Her palms were sweaty. The heart sounds were normal, and no heart murmur was auscultated. The laboratory results were TSH: 5.31uU / mL, fT3: 6.83 pg / mL, and fT4: 2.43 ng / dL. THR beta gene mutation analysis was requested for our patient whose clinical history and laboratory results were compatible with thyroid hormone resistance. The pathogenic variation NM_001128177.1(THR beta):c.1034G>A (p.Gly345Asp) was detected after analysis. Conclusion. A diagnosis of RTH requires high clinical suspicion and a genetic mutation analysis should be requested in the case of clinical suspicion. In this way, unnecessary anti-thyroid treatment can be prevented.en_US
dc.identifier.issn1841-0987
dc.identifier.issn1843-066X
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85126273279en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/24294
dc.identifier.volume17en_US
dc.identifier.wosWOS:000756394400003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherEditura Acad Romaneen_US
dc.relation.ispartofActa Endocrinologica-Bucharesten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectThyroid Hormone Resistanceen_US
dc.subject1034G > A (P.Gly345Asp)en_US
dc.subjectTHR Betaen_US
dc.subjectReceptor-Beta-Geneen_US
dc.subjectMutationsen_US
dc.subjectFamiliesen_US
dc.titleTHYROID HORMONE RESISTANCE: A CASE REPORTen_US
dc.typeArticleen_US

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