ea0016p708 | Thyroid | ECE2008
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...