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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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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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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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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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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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The Thyroid Hormone Receptors: Molecular Basis of Thyroid Hormone Resistance
Hormone Research, 1992Major 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 the interaction of different receptors with each other leads to new insights in cell regulation and
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1999
Thyroid hormones (thyroxine T4, triiodothyronine T3) regulate many cellular func-tions in virtually every type of tissue. The diverse responses to thyroid hormone include regulation of growth, the metabolic rate, muscular activity, and myocardial contractility.
V. Krishna K. Chatterjee +2 more
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Thyroid hormones (thyroxine T4, triiodothyronine T3) regulate many cellular func-tions in virtually every type of tissue. The diverse responses to thyroid hormone include regulation of growth, the metabolic rate, muscular activity, and myocardial contractility.
V. Krishna K. Chatterjee +2 more
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2011
Thyroid hormone resistance is defined as a dominant hereditary condition in which the gene for the thyroid hormone receptor protein has mutated so that the normal binding of thyroid hormone on the T3 receptors in the cell nuclei of different organs is reduced.
Ernst Nyström +4 more
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Thyroid hormone resistance is defined as a dominant hereditary condition in which the gene for the thyroid hormone receptor protein has mutated so that the normal binding of thyroid hormone on the T3 receptors in the cell nuclei of different organs is reduced.
Ernst Nyström +4 more
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Resistance to Thyroid Hormones
Archives of Internal Medicine, 1982• Five patients from two unrelated families were found to have goiter and elevated serum concentrations of thyroxine (T 4 ) and triiodothyronine (T 3 ) without symptoms or signs of hyperthyroidism. All had measurable concentrations of thyroid stimulating hormone (TSH), and in four who were tested, there was an increase in TSH concentration following ...
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[Resistance to thyroid hormones].
Casopis lekaru ceskych, 2015Resistance to thyroid hormones (RTH) is a rare disease with prevalence 1 : 40 000-50 000. About 85% of cases are caused by mutation of thyroid hormone receptor gene β (TRβ) and in 15% of cases the mutation cannot be detected (nonTR-RTH). Elevated thyroid hormone and non-suppressed TSH in the blood, goitre and variable other clinical symptoms are ...
Jan, Jiskra, Zdeňka, Límanová
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