ESPE Abstracts

Thyroid hormone (TH) transporters are mandatory for proper TH metabolism and action as they facilitate the transmembrane passage of both T4 and T3. Inactivating mutations in the highly specific TH transporter MCT8 (encoded by the X-linked SLC16A2 gene) lead to severe intellectual and motor disabilities presumably due to a strongly diminished TH transport into the CNS and, consequently, an impaired neural development (Allan-Herndon-Dudley Syndrome, AHDS). Apart from a central T...

Background: Patients with a mutation in the thyroid hormone (TH) receptor TRα1 are characterized by growth retardation, delayed bone development, mild cognitive defects and constipation. They also have abnormal TH levels: low FT4, high T3, and low rT3 levels, suggesting an altered peripheral TH metabolism by deiodinases. The type 3 deiodinase (D3) inactivates TH by catalyzing the degradation of T3. D3 is importantly expressed in...