Abstract
Background: Cellular uptake and release of thyroid hormone are mediated by transporters. Among these, monocarboxylate transporter 8 (MCT8) shows particularly high activity towards the active thyroid hormone 3,3′,5-triiodothyronine (T<sub>3</sub>). MCT8 is expressed in different tissues, including the brain where it is predominantly localized in neurons. The MCT8 gene is located on the X chromosome. Conclusions: Mutations in MCT8 have been identified in boys with severe psychomotor retardation who also have very high serum T<sub>3</sub> levels. Thyroid hormone is crucial for brain development, and mutations in MCT8 prevent the access of T<sub>3</sub> to its main target cells. Thus, mutations in MCT8 represent a novel mechanism for the pathogenesis of thyroid hormone resistance.
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