Thyroid Hormone Resistance Syndrome [syndrom rezistence k thyreoidálním hormonům]

topical
10
Terms

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

Persistent link   https://www.medvik.cz/link/D018382
Definition

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