A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome [PDF]
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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Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto’s Thyroiditis: A pedigree report [PDF]
Journal of International Medical Research, 2022 Thyroid hormone resistance syndrome (THRS) is a rare disease characterized by reduced sensitivity to thyroid hormones. Mutations in the thyroid hormone receptor beta ( THRB ) gene are considered as contributing to the pathogenesis.
Zongyan Xie +4 more
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Identification of a novel THRB mutation causing thyroid hormone resistance syndrome [PDF]
Archives of Endocrinology and MetabolismResistance to thyroid hormone syndrome (RTHS) is a rare disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene, resulting in impaired action of thyroid hormones on target tissues and organs.
Jing Yang +3 more
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ODP521 THYROID HORMONE RESISTANCE SYNDROME [PDF]
J Endocr Soc, 2022 Abstract Introduction The Thyroid hormone resistance syndrome is characterized by decreased tissue sensitivity to thyroid hormones. The incidence is about 1/50,000. We present two clinical cases of this disease. Clinical case 1A 59-year-old woman was evaluated for presenting palpitations for more than
Franco, Katty Manrique, Manrique, Helard
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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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Resistance to Thyroid Hormone Beta: A Focused Review
Frontiers in Endocrinology, 2021 Resistance to thyroid hormone (RTH) is a clinical syndrome defined by impaired sensitivity to thyroid hormone (TH) and its more common form is caused by mutations in the thyroid hormone receptor beta (THRB) gene, termed RTHβ.
Theodora Pappa, Samuel Refetoff
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The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors. [PDF]
Front Endocrinol (Lausanne), 2023 Zhao J +5 more
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Correlation of Thyroid Hormone Levels and Sensitivity With Metabolic Syndrome in Older Adults [PDF]
Journal of DiabetesObjective Previous studies have shown that thyroid function is associated with metabolic syndrome (MetS), but this association remains poorly understood in older adults.
Fengjuan Hu +7 more
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Journal of Investigative Medicine High Impact Case Reports, 2014 Patients with the syndrome of resistance to thyroid hormone (RTH) have clinical (tachycardia and anxiety) and biochemical (elevated thyroid hormones level) features of hyperthyroidism.
Kathleen Glymph DO +1 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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