Search on: THYROID HORMONE RESISTANCE SYNDROME 
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Descriptor English:   Thyroid Hormone Resistance Syndrome 
Descriptor Spanish:   Síndrome de Resistencia a Hormona Tiroidea 
Descriptor Portuguese:   Síndrome da Resistência aos Hormônios Tireóideos 
Synonyms English:   Refetoff Syndrome  
Tree Number:   C19.874.410.500
Definition 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. 
Indexing Annotation English:   differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present
See Related English:   Euthyroid Sick Syndromes
 
History Note English:   95 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
congenital complications
diet therapy diagnosis
drug therapy economics
ethnology embryology
enzymology epidemiology
etiology genetics
history immunology
metabolism microbiology
mortality nursing
pathology prevention & control
physiopathology parasitology
psychology radiography
rehabilitation radionuclide imaging
radiotherapy surgery
therapy urine
ultrasonography veterinary
virology  
Record Number:   32006 
Unique Identifier:   D018382 

Occurrence in VHL: 		 

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