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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Triiodothyroacetic acid exerts tissue-specific thyromimetic effects without tachycardia and hyperthermia in male mice [PDF]
European Thyroid JournalObjective: Thyroid hormones regulate cardiovascular functions and energy homeostasis, including thermogenesis, through binding to nuclear thyroid hormone receptors. The thyroid hormone analog 3,3′,5-triiodothyroacetic acid (TRIAC) has recently emerged as
Beate Herrmann +3 more
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The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors [PDF]
Frontiers in Endocrinology, 2023 Lin Liao, Jianjun Dong
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Thyrotropin/growth hormone co-secreting pituitary adenoma with pancytopenia: a case report [PDF]
Journal of Medical Case ReportsBackground Thyroid-stimulating hormone (TSH)-secreting pituitary adenoma (TSHoma) is a rare functional pituitary tumor that secretes TSH independently, thus stimulating the synthesis and secretion of thyroid hormone. Its clinical manifestation is central
Jie Liu +8 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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