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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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2014
Resistance to thyroid hormone (RTH) or thyroid hormone action defect (THAD) is the most frequent form of syndromes of reduced sensitivity to thyroid hormone. It is characterized by variable tissue hyposensitivity to thyroid hormone. RTHβ (formerly only RTH) is caused by mutations in the thyroid hormone receptor β gene (THRB).
Kazumichi, Onigata, Gabor, Szinnai
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Resistance to thyroid hormone (RTH) or thyroid hormone action defect (THAD) is the most frequent form of syndromes of reduced sensitivity to thyroid hormone. It is characterized by variable tissue hyposensitivity to thyroid hormone. RTHβ (formerly only RTH) is caused by mutations in the thyroid hormone receptor β gene (THRB).
Kazumichi, Onigata, Gabor, Szinnai
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Familial thyroid hormone resistance
Metabolism, 1982Three phenotypically normal family members were discovered to have elevated thyroid function (T4, free T4, T3, 123I uptake), but were clinically euthyroid. Further evaluation of pituitary and peripheral indices of thyroid hormone action was consistent with the diagnosis of peripheral resistance to thyroid hormone.
D S, Cooper +5 more
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Clinics in Laboratory Medicine, 1993
Resistance to thyroid hormone encompasses a clinically heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone that under normal circumstances would be excessive. The syndrome of resistance to thyroid hormone is first suspected when serum thyroid hormone levels are found to be elevated in ...
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Resistance to thyroid hormone encompasses a clinically heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone that under normal circumstances would be excessive. The syndrome of resistance to thyroid hormone is first suspected when serum thyroid hormone levels are found to be elevated in ...
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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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Resistance to Thyroid Hormone in a Patient with Thyroid Dysgenesis
Thyroid, 2005We report a patient with the unusual coincidence of two rare congenital disorders, lingual ectopy of the thyroid gland and resistance to thyroid hormone (RTH), resulting in impaired thyroid hormone production and action, respectively. The proposita had a positive thyrotropin (TSH) newborn screening test (350 mU/L, confirmed) with normal thyroxine (T4 ...
Helmut, Grasberger +3 more
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Resistance to thyroid hormone in children
Current Opinion in Pediatrics, 1994The genetic etiology of thyroid hormone resistance syndromes is now well established. Two clinical variants, generalized resistance to thyroid hormone (GRTH) and selective pituitary resistance to thyroid hormone (PRTH), are, in most cases, caused by heterozygous mutations in the ligand-binding domain of the c-erbA beta thyroid hormone receptor gene. No
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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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2021
Resistance to Thyroid hormone beta (RTH-β) is a genetic syndrome characterized by impaired peripheral sensitivity to thyroid hormone (TH) due to heterozygous dominant-negative variants in the THRB gene, coding for TH receptor beta (TRβ).
Luca Persani, Irene Campi
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Resistance to Thyroid hormone beta (RTH-β) is a genetic syndrome characterized by impaired peripheral sensitivity to thyroid hormone (TH) due to heterozygous dominant-negative variants in the THRB gene, coding for TH receptor beta (TRβ).
Luca Persani, Irene Campi
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Thyroid Hormone Transporters and Resistance
2013Cellular entry is an important step preceding intracellular metabolism and action of thyroid hormone (TH). Transport of TH across the plasma membrane does not take place by simple diffusion but requires transporter proteins. One of the most effective and specific TH transporters identified to date is monocarboxylate transporter 8 (MCT8), the gene of ...
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