Searchable abstracts of presentations at key conferences in endocrinology

ea0014p186 | (1) | ECE2007

X-linked neuronal T3 transport defect: Allan Herndon Dudley syndrome

Dugal Tabinda , Albanese Assunta , Mc Entagart Muriel

Thyroid hormone is absolutely necessary for early brain development.Incidence of thyroid disorders in infancy is 1:4,000.Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light.MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a developi...