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
doaj +2 more sources
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
doaj +3 more sources
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
exaly +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Syndromes of thyroid hormone resistance
American Journal of Physiology-Endocrinology and Metabolism, 1982 Resistance to the action of thyroid hormone can involve both peripheral tissues and the pituitary (global resistance), the pituitary only or peripheral tissues alone.
S. Refetoff
core +3 more sources
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
doaj +2 more sources
Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status [PDF]
Archives of Endocrinology and Metabolism, 2015 Resistance to thyroid hormone (RTH) is a rare autosomal dominant hereditary disorder. Here in, we report two patients with RTH in whom differentiated thyroid cancer was diagnosed. Two patients were admitted to our clinic and their laboratory results were
Melia Karakose +5 more
doaj +3 more sources
RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS
Euromediterranean Biomedical Journal, 2018 Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported.
Maria Scavone
doaj +2 more sources
Thyroid hormone resistance syndrom: difficulties in differential diagnosis
Клиническая и экспериментальная тиреоидология, 2018 Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones.
Lyudmila A. Ruyatkina +3 more
doaj +2 more sources