Molecular Diagnosis of Rare Thyroid Pathologies

MARICEL MOLINA; ADROVER E

Congreso; Reunión Anual de Sociedades de Biociencia; 2019

Resistance to thyroid hormone (RTH) is a rare syndrome with an incidence of 1 in 40.000-50.000 newborns, characterized by a decreased sensitivity to thyroid hormone which leads to elevated serum TH concentrations, but inappropriately normal or elevated thyroid stimulating hormone concentrations. This disease is mostly caused by mutations of thyroid hormone receptor beta (THRβ) gene. Thyroxine-binding globulin (TBG) is the main transporter of thyroid hormones and is encoded by the TBG gene. Several mutations have been reported in TBG gene causing partial TBG deficiency (TBG-PD) whose prevalence is 1:4000.