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 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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