Thyroid Hormone Resistance Syndrome
Generalized Resistance to Thyroid Hormone
Generalized Thyroid Hormone Resistance
Hormone Resistance, Thyroid
Refetoff DeWind DeGroot Syndrome
Resistance, Thyroid Hormone
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.