ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study examined resistance to thyroid hormone (TH)-induced tachycardia in patients with Resistance to THα (RTHα). This rare condition is caused by mutations in the TH receptor alpha (TRα1), and leads to hypothyroidism in TRα1-expressing tissues, including the heart. While high doses of thyroxine (T4) are typically used to treat this condition, patients with RTHα do not exhibit the expected increase in heart rate despite overcoming ti...

Brief Summary: This basic science study examined how 3,5,3’-triiodothyroacetic acid (TRIAC) - a thyroid hormone (TH) receptor agonist used in patients with resistance to TH, and in patients with Allan-Herndon-Dudley syndrome (AHDS), caused by mutations in monocarboxylate transporter 8 (MCT8) - is transported into cells independent of MCT8. Through a genome-wide RNAi screening in HepG2 cells, two key transporters, SLC22A9 (OAT7) and SLC29A2 (ENT2), were identified that fac...