Thyroid hormone receptors and resistance to thyroid hormone disorders
نویسندگان
چکیده
منابع مشابه
[Thyroid hormone resistance syndromes].
Thyroid 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 mediated by deiodinases. An updated review of each...
متن کاملThyroid hormone resistance.
Thyroid hormone resistance (THR) is a rare syndrome of reduced end organ sensitivity. Patients with THR have elevated serum free thyroxine (FT4), free triiodothyronine (FT3), but normal or slightly elevated serum thyrotropin values. The characteristic clinical feature is goitre without symptoms and metabolic consequences of thyroid hormone excess. THR can be classified on the basis of tissue re...
متن کاملThyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors.
Thyroid hormone (T3) resistance is inherited in most cases in an autosomal dominant manner. The disorder is characterized by elevated free thyroid hormone levels and partial resistance to thyroid hormone at the cellular level. Distinct single amino acid substitutions in the ligand binding domain of the beta form of the thyroid hormone receptor have been described in two kindreds with this disor...
متن کاملCoexistence of resistance to thyroid hormone and papillary thyroid carcinoma.
UNLABELLED Resistance to thyroid hormone (RTH) is a syndrome of reduced tissue responsiveness to thyroid hormones. RTH is majorly caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies indicated a close association of THRB mutations with human cancers, but the role of THRB mutation in carcinogenesis is still unclear. Here, we report a rare case of RTH with a papill...
متن کاملResistance to thyroid hormone due to defective thyroid receptor alpha
Thyroid hormones act via nuclear receptors (TRα1, TRβ1, TRβ2) with differing tissue distribution; the role of α2 protein, derived from the same gene locus as TRα1, is unclear. Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with near-normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia (macrocepha...
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ژورنال
عنوان ژورنال: Nature Reviews Endocrinology
سال: 2014
ISSN: 1759-5029,1759-5037
DOI: 10.1038/nrendo.2014.143