Refetoffov syndróm syndróm rezistencie na hormóny štítnej žľazy rezistencia voči hormónom štítnej žľazy, generalizovaná syndróm rezistencie voči tyreoidálnym hormónom
English X references
Refetoff Syndrome
Scope note in English
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.
See also reference (FX) in Slovak
syndrómy eutyreoidné chorobné
See also reference (FX) in English
Euthyroid Sick Syndromes
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(2) - ARTICLES
(2) - MeSH descriptor
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