Search on: THYROID HORMONE RESISTANCE SYNDROME 
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Descriptor English:   Thyroid Hormone Resistance Syndrome 
Descriptor Spanish:   Síndrome de Resistencia a Hormonas Tiroideas 
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:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RA radiography
RI radionuclide imaging RT radiotherapy
RH rehabilitation SU surgery
TH therapy US ultrasonography
UR urine VE veterinary
VI virology  
Record Number:   32006 
Unique Identifier:   D018382 

Occurrence in VHL: 		 

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