hrp0086p1-p917 | Thyroid P1 | ESPE2016

Hypercholesterolemia in Two Siblings with THRB Mutation

Jakic Maja , Groselj Urh , Stefanija Magdalena Avbelj , Tansek Mojca Zerjav , Podkrajsek Katarina Trebusak , Battelino Tadej

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....