Thyroid Hormone Resistance Syndrome


Generalized Resistance to Thyroid Hormone

Generalized Thyroid Hormone Resistance

Hormone Resistance, Thyroid

Refetoff DeWind DeGroot Syndrome

Refetoff Syndrome

Refetoff-DeWind-DeGroot Syndrome

Resistance, Thyroid Hormone

Syndrome, Refetoff

Syndrome, Refetoff-DeWind-DeGroot

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.