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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated
Jae Hee Lee, Eun Young Kim
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Resistance to thyroid hormone induced tachycardia in RTHα syndrome [PDF]
Nature Communications, 2023 Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart.
Riccardo Dore +23 more
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The Syndromes of Resistance to Thyroid Hormone Beta
罕见病研究, 2023 The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone
WANG Huangman +2 more
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A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome
Endocrinology, Diabetes & Metabolism Case Reports, 2021 Resistance to thyroid hormone (RTH) is a rare hereditary syndrome with impaired sensitivity to thyroid hormones (TH) and reduced intracellular action of triiodothyronine (T3) caused by genetic variants of TH receptor beta (TRB) or alpha (TRA).
Michela Del Prete +6 more
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Calcitonin values in pseudohypoparathyroidism [PDF]
Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2023 Pseudohypoparathyroidism type 1A is a rare endocrine disorder caused by GNAS mutation and the resulting hormone resistance at the receptor level, i.e. the activation of the intracellular pathway of the Gs alpha subunit is not possible.
Marković Bojan +6 more
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Graves’ disease coexisted with resistance to thyroid hormone: a case report
Journal of Medical Case Reports, 2021 Background Resistance to thyroid hormone is a rare autosomal dominant disorder characterized by reduced responsiveness to thyroid hormone and can cause syndrome of inappropriate secretion of thyroid stimulating hormone.
Hiroshi Akahori, Rika Usuda
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Thyroid dysfunction in patients of metabolic syndrome: A study from a tertiary care center in India
Asian Journal of Medical Sciences, 2021 Background: Metabolic syndrome is characterized by hypertension, dyslipidemia, central obesity, glucose intolerance, insulin resistance. Thyroid hormone acts as general pacemaker, accelerating metabolic process and may be associated with metabolic ...
Ritu Gupta +2 more
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Update on resistance to thyroid hormone syndromeβ
Italian Journal of Pediatrics, 2020 Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene.
Hongping Sun +4 more
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Journal of Clinical and Translational Endocrinology Case Reports, 2023 Background: Resistance to thyroid hormone (RTH) syndrome is a rare clinical condition and manifests biochemically as persistent hyperthyroxinemia with unsuppressed thyroid-stimulating hormone (TSH) levels.
Alamin Alkundi, Rabiu Momoh
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Endocrinology Research and Practice, 2016 Purpose: Normal or elevated thyrotropin (TSH) levels in the presence of elevated thyroxine is defined as syndrome of inappropriate secretion of TSH. The two main clinical conditions that can lead to this syndrome are TSH-secreting adenoma (TSHoma) and ...
Şefika Burçak Polat +5 more
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