Searchable abstracts of presentations at key conferences in endocrinology
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19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

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20-23 May 2017, Lisbon, Portugal Further information

Symposia

Tissue specific defects in thyroid hormone action

ea0049s26.1 | Tissue specific defects in thyroid hormone action | ECE2017

Mouse models to study tissue specific hypothyroidism

Heuer Heike

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...

ea0049s26.2 | Tissue specific defects in thyroid hormone action | ECE2017

Syndromes of decreased sensitivity to thyroid hormone

Schoenmakers Nadia

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...

ea0049s26.3 | Tissue specific defects in thyroid hormone action | ECE2017

Restoring TH action in patients with transporter defects: the triac trial

Groeneweg Stefan

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...