Peripheral thyroid hormone resistance

: Peripheral thyroid hormone resistance (PTHR) was first described by Refetoff in 1967, and was characterized by raised serum hormone values of T4 and T3 and in appropriately elevated values of TSH. PTHR has been shown to be caused by a mutation in the TR beta gene resulting in impaired nuclear binding of thyroid hormones or an impaired post receptor hormone effect. The patients are often characterized phenotypically by impairment of bone, heart or cerebral function.