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Syndromes of thyroid hormone resistance
Annales d'Endocrinologie, 2005Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder, characterized clinically by goiter and biochemically by elevated circulating free thyroid hormone levels in the presence of measurable serum TSH concentrations. About 85% of patients with RTH are harboring mutations in thyroid hormone receptor beta (TRB). These mutations cluster in
P. Beck-Peccoz, D. Mannavola, L.Persani
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Thyroid hormone resistance syndromes
The American Journal of Medicine, 1993The thyroid hormone resistance syndromes are disorders in which the body's tissues are resistant to the effects of thyroid hormone. Generalized resistance to thyroid hormone (GRTH) is characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.
M T, McDermott, E C, Ridgway
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Cardiac complications of thyroid hormone resistance syndromes
Annales d'Endocrinologie, 2021Thyroid hormones exert their action by binding to their thyroid hormone receptors among other mechanisms. They are involved in different cardiac functions, including contractility and rhythm. The mutation of thyroid hormone receptor β is the main cause of thyroid hormone resistance.
Frédéric, Illouz +6 more
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Syndromes of thyroid hormone resistance
American Journal of Physiology-Endocrinology and Metabolism, 1982Resistance to the action of thyroid hormone can involve both peripheral tissues and the pituitary (global resistance), the pituitary only or peripheral tissues alone. Global resistance is of variable severity and has been observed in more than 60 individuals, the majority occurring in 17 families.
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Syndromes of Resistance to Thyroid Hormone Action
2019Thyroid hormone (TH) action is crucial for the development of several tissues.A number of syndromes are associated with reduced responsiveness to thyroid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 ...
Luca, Persani, Irene, Campi
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Thyroide hormone resistance syndromes
Endocrinología y Nutrición (English Edition), 2011Thyroid hormone resistance syndromes are a group of genetic conditions characterized by decreased tissue sensitivity to thyroid hormones. Three syndromes, in which resistance to hormone action is respectively due to mutations in the gene encoding for thyroid hormone receptor TRβ, impaired T4 and T3 transport, and impaired conversion of T4 to T3 ...
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Syndromes of Resistance to Thyroid Hormone Action
2015Thyroid hormone (TH) action is crucial for the development of several tissues. A number of syndromes are associated with reduced responsiveness to thyroid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 ...
L. Persani, I. Campi, F. Marelli
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Thyroid hormone resistance syndromes
Trends in Endocrinology & Metabolism, 1991Abstract The gene for generalized thyroid hormone resistance has been mapped to the c- erb Aβ thyroid hormone receptor on chromosome 3 in multiple kindreds. Different mutations have been identified in the triiodothyronine (T 3 )-binding domain of c- erb Aβ and result in variable changes in T 3 binding affinity.
Stephen J. Usala, Bruce D. Weintraub
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Syndromes of Resistance to Thyroid Hormone
2022Abstract Disorders of cellular uptake, metabolism, or action of thyroid hormones comprise syndromes of resistance to thyroid hormone. Reduced entry of thyroid hormones into the central nervous system via a membrane transporter mediates severe mental and psychomotor retardation associated with peripheral hyperthyroidism.
Carla Moran +2 more
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Thyroid Hormone Resistance Syndromes
2019Syndromes with impaired sensitivity to thyroid hormone (TH) include three types of resistance to thyroid hormone (RTH) syndromes (RTHβ, RTHα, and nonTR-RTH) and also include patients with defects in TH transport into cells (thyroid hormone cell membrane transport defect, THCMTD) and defects in TH metabolism (thyroid hormone metabolism defect, THMD ...
Roy E. Weiss, Samuel Refetoff
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