title: [Thyroid hormone resistance syndromes].
abstract: 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 of these forms of resistance is provided, and their pathogenetic mechanisms and clinical approaches are discussed.
authors: Instituto de Investigaciones Biomédicas, CSIC-UAM y CIBER de enfermedades raras, Madrid, España. jbernal@iib.uam.es
authors: Juan
authors: J
authors: Bernal
mesh_terms: D000818:Animals; D001692:Biological Transport; D002467:Cell Nucleus / Q000378:metabolism; D004195:Disease Models, Animal; D005786:Gene Expression Regulation / Q000502:physiology; D005808:Genes, Recessive; D020249:Hormone Replacement Therapy / Q000009:adverse effects / Q000379:methods; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000196:embryology / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D007453:Iodide Peroxidase / Q000172:deficiency / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D027501:Monocarboxylic Acid Transporters / Q000172:deficiency / Q000235:genetics; D017434:Protein Structure, Tertiary; D020218:Response Elements / Q000235:genetics; D027981:Symporters; D013577:Syndrome; D037042:Thyroid Hormone Receptors beta / Q000737:chemistry / Q000172:deficiency / Q000235:genetics; D013963:Thyroid Hormones / Q000378:metabolism / Q000502:physiology* / Q000627:therapeutic use
chemical_list: D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones; D007453:Iodide Peroxidase