thyroid hormone resistance, generalized, autosomal recessive

Rare Disease

MONDO:0010131

Also Known As

thyroid hormone resistancethyroid hormone resistance syndromethyroid hormone resistance, autosomal recessivethyroid hormone resistance, generalized, autosomal recessiveGRTHGthrRefetoff syndromeTHRBthyroid hormone receptor BETAthyroid hormone unresponsiveness

Definition

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.