ArticleOpen access Macedonian journal of medical sciences2019
A Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis.
Article in Open access Macedonian journal of medical sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Retrospective analysis and literature review of four cases of thyroid hormone resistance syndrome caused byTranslational pediatrics · 2022Article
- Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's Thyroiditis: A pedigree report.The Journal of international medical research · 2022Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundPeripheral resistance to thyroid hormones is a type of unresponsiveness of the peripheral cells or tissues to FT3 and/or FT4. Generalised resistance to thyroid hormones affects the pituitary gland and most of the peripheral tissues. Selective pituitary resistance or central resistance to thyroid hormones include unresponsiveness of the pituitary gland, but the peripheral tissues are responsive. Selective peripheral resistance involves peripheral tissue or cellular resistance to thyroid hormones, but the pituitary gland is responsive. CASE PRESENTATION: We present a rare case of a female patient with partial peripheral resistance to thyroid hormones due to a point mutation coding for the beta subunit of the integrin molecule α(V)β(3) and concomitant Hashimoto`s thyroiditis. Clinically, the patient`s symptoms were in favour of hypothyroidism, and the laboratory results were in favour of the secondary hyperthyroid state. PCR protein amplification detected a point mutation coding for the membrane receptor, which mediates a signal via the MAPK pathway when bonded with thyroid hormones.
conclusionPeripheral resistance to thyroid hormones is a very rare condition and can often be misdiagnosed due to the broad spectrum of clinically similar differential diagnostic entities. Molecular analysis is required to confirm the exact underlying cause for the impaired peripheral sensitivity to thyroid hormones syndrome.
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