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
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ADHD and Thyroid Hormone Resistance
Pediatric Neurology Briefs, 1993 The presence and severity of attention deficit-hyperactivity disorder (ADHD) in 104 members of 18 families with a history of generalized resistance to thyroid hormone were evaluated at the National Institutes of Health, Bethesda, MD, using structured ...
J Gordon Millichap
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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
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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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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
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Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report [PDF]
The Turkish Journal of Pediatrics, 2013 Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene.
Emregül Işık +6 more
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The thyroid hormone receptors: molecular basis of thyroid hormone resistance.
Hormone Research, 1992 Major progress has been achieved in the mechanism of action of thyroid hormones thanks to the identification of the T3 receptor as the product of the proto-oncogene c-erbA. Recognition of subsets of receptors with and without T3-binding properties and of
De Nayer, Philippe
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Thyroid hormone resistance syndromes: Emerging insights and clinical implications
Thyroid Research & PracticeThyroid hormone resistance syndromes (RTH) represent rare disorders characterized by reduced tissue responsiveness to circulating thyroid hormones, leading to variable biochemical and clinical manifestations. Despite elevated serum thyroid hormone levels,
Richa Chaturvedi +9 more
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A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment [PDF]
International Medical Case Reports JournalJie Liu, Yu Wei, Yanhui Zhu, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence: Guoxi
Liu J +8 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
Tânia M, Ortiga-Carvalho +2 more
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