Thyroid Hormone Resistance Syndrome [syndrom rezistence k thyreoidálním hormonům]
- Terms
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generalizovaná rezistence k thyreoidálním hormonům
generalizovaná rezistence k tyreoidálním hormonům
Refetoffův syndrom
syndrom rezistence k tyreoidálním hormonům
-
Generalized Resistance to Thyroid Hormone
Generalized Thyroid Hormone Resistance
Refetoff Syndrome
Refetoff-DeWind-DeGroot Syndrome
Thyroid Hormone Resistance
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.
- Annotation
- differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present
- DUI
- D018382 MeSH Browser
- CUI
- M0027608
- History note
- 95
- Public note
- 95
Allowable subheadings
- BL
- blood 2
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 1
- CO
- complications 2
- DI
- diagnosis 5
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 2
- GE
- genetics 3
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 1
- PP
- physiopathology 3
- PC
- prevention & control 0
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- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 3
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0