Thyroid hormone is crucial for metabolism and development. Cellular thyroid hormone homeostasis requires adequate function of (i) thyroid hormone transporter proteins, (ii) deiodinating enzymes and (iii) nuclear receptors. Thyroid hormone transporters are crucial for cellular uptake of T3 and T4. Over the last years, a number of thyroid hormone transporters have been identified and their physiological relevance has been established. The most well-studied example is MCT8 deficiency, which is associated with severe neurocognitive impairments and peripheral thyrotoxicosis. The pathogenesis as well as therapy development for this disease will be discussed. In addition, recent discoveries illustrate the relevance of transporters for clinical practice.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology