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Concept information

Endocrine System Diseases > Thyroid Diseases > Hyperthyroxinemia > Thyroid Hormone Resistance Syndrome

Terme préférentiel

Thyroid Hormone Resistance Syndrome  

Type

  • mesh:Descriptor

Définition

  • An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.

Concept générique

Synonyme(s)

  • Refetoff-DeWind-DeGroot Syndrome
  • Refetoff Syndrome

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-KT92LN0B-2

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RDF/XML TURTLE JSON-LD Date de création 28/02/1994, dernière modification le 05/07/2019