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Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance [PDF]
Endocrine Connections, 2022 Background: Thyroid hormone action is mediated by two forms of thyroid hormone receptors (α, β) with differential tissue distribution. Thyroid hormone recepto r β (TRβ) mutations lead to resistance to thyroid hormone action in tissues predominantly ...
Marcus Heldmann +11 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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Thyroid hormone receptors and resistance to thyroid hormone disorders [PDF]
Nature Reviews Endocrinology, 2014 Thyroid hormone action is predominantly mediated by thyroid hormone receptors (THRs), which are encoded by the thyroid hormone receptor α (THRA) and thyroid hormone receptor β (THRB) genes. Patients with mutations in THRB present with resistance to thyroid hormone β (RTHβ), which is a disorder characterized by elevated levels of thyroid hormone, normal
Tania M Ortiga-Carvalho +2 more
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Clinical Case Reports, 2021 The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.
Bingkun Huang +7 more
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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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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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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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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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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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