Searchable abstracts of presentations at key conferences in endocrinology

ea0016p708 | Thyroid | ECE2008

Phenotypic profiling of MCT8 deficient mice

Wirth Eva Katrin , Roth Stephan , Ambrugger Petra , Biebermann Heike , Kohrle Josef , Gruters-Kieslich Annette , Schweizer Ulrich

Thyroid hormones are essential for the proper development of a variety of tissues, especially the nervous system. Their transport into target cells is mediated by specific thyroid hormone transporters like the monocarboxylate transporter 8 (MCT8). Mutations in this X-chromosomal gene in humans lead to a severe phenotype characterized by psychomotor retardation, hypotonia, and a striking derangement of serum thyroid hormone levels: high T3 in the presence of low T4, and no sign...