Concept information
Preferred term
Thyroid Hormone Resistance Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Refetoff DeWind DeGroot Syndrome
- Refetoff-DeWind-DeGroot Syndrome
- Refetoff Syndrome
- Syndrome, Refetoff
- Syndrome, Refetoff-DeWind-DeGroot
Note
- differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present
Scope note
- 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.
History note
- 95
In other languages
-
Finnish
-
kilpirauhashormoniresistenssisyndrooma
-
tyroksiiniresistenssioireyhtymä
-
tyroksiiniresistenssisyndrooma
-
Swedish
-
Refetoffs syndrom
URI
http://www.yso.fi/onto/mesh/D018382
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