Endocrine Abstracts

The importance of thyroid hormone (TH) transporters for brain development has been unequivocally demonstrated by the identification of mutations in the transporter MCT8. Patients have mental retardation, hypotonia and low body weight (BW). Their biochemical phenotype typically shows high serum T3, low serum T4 and normal TSH levels. Recently, it has been shown that MCT8 is prerequisite for normal TH release from the thyroid. To date, no curative therapy i...