Endocrine Abstracts

Thyroid hormone (TH) actions and metabolism are intracellular events that require the transport of TH across the plasma membrane in target cells. Consequently, impaired uptake of TH can lead to tissue- specific TH deprivation independent of the TH concentrations in the circulation. A prominent example for such a scenario represents the Allan-Herndon-Dudley syndrome (AHDS). This syndrome is caused by inactivating mutations in the X-linked Slc16a2 gene encoding the monocarboxyla...

Disorders of thyroid hormone action are classified broadly, to encompass conditions with defective cellular uptake, metabolism or nuclear action of thyroid hormones. Genomic thyroid hormone action is mediated via receptor subtypes (TRalpha, TRbeta) with differing tissue distributions. TRbeta-mediated Resistance to Thyroid Hormone (RTH) is characterised by elevated thyroid hormones, raised metabolic rate and cardiac hyperthyroidism but hepatic resistance (dyslipidaemia, steatos...

Mutations in the thyroid hormone (TH) transporter MCT8 result in the Allan–Herndon–Dudley syndrome (AHDS), which is characterized by severe intellectual and motor disability and high serum T3 levels inducing thyrotoxicity in peripheral organs. At present, no effective treatment is available. Preclinical studies suggest that the T3 analogue Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling...