[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: Juan Bernal
• Journal: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion (Endocrinol Nutr) Vol. 58 Issue 4 Pg. 185-96 (Apr 2011) ISSN: 1579-2021 [Electronic] Spain
• Vernacular Title: Síndromes de resistencia a las hormonas tiroideas.
• PMID: 21459689 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2010 SEEN. Published by Elsevier Espana. All rights reserved.

Chemical References

• Monocarboxylic Acid Transporters
• SLC16A2 protein, human
• Symporters
• Thyroid Hormone Receptors beta
• Thyroid Hormones
• Iodide Peroxidase

Topics

• Animals
• Biological Transport
• Cell Nucleus (metabolism)
• Disease Models, Animal
• Gene Expression Regulation (physiology)
• Genes, Recessive
• Hormone Replacement Therapy (adverse effects, methods)
• Humans
• Hypothyroidism (diagnosis, embryology, epidemiology, genetics, physiopathology)
• Iodide Peroxidase (deficiency, metabolism)
• Mice
• Mice, Knockout
• Monocarboxylic Acid Transporters (deficiency, genetics)
• Protein Structure, Tertiary
• Response Elements (genetics)
• Symporters
• Syndrome
• Thyroid Hormone Receptors beta (chemistry, deficiency, genetics)
• Thyroid Hormones (metabolism, physiology, therapeutic use)