Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps2-20-09 | Thyroid hormone receptors basic | ETA2023

The relevance of histidine 175 in thyroid hormone receptor alpha 1 for co-repressor binding revealed by a family carrying a H175R variant

Liao Wenjun , Meima Marcel , Groeneweg Stefan , Hannema Sabine , Edward Visser W.

Background: Resistance to thyroid hormone (TH) alpha (RTHα), caused by heterozygous mutations in THRA, is characterized by abnormal thyroid function tests and features due to tissue-specific hypothyroidism, including disproportional short stature, variable motor and cognitive defects, macrocephaly and macroglossia, constipation and anemia. Mutant receptors display defective T3 binding resulting in impaired transcriptional activity. Dominant negative inhibition of the WT r...

ea0084ps2-09-84 | Thyroid Hormone ACTION | ETA2022

Molecular mechanisms underlying action of triac in resistance to thyroid hormone BETA (RTHβ)

Liao Wenjun , van Geest Ferdy , Marelli Federica , Campi Irene , Moran Carla , Lyons Greta , Agostini Maura , Peeters Robin , Chatterjee Krishna , Persani Luca , Meima Marcel , Edward Visser W.

Background: Resistance to thyroid hormone (TH) beta (RTHβ), caused by mutations in THRB, is characterized by elevated serum (F)T4 accompanied by non-suppressed TSH concentrations. Disease features arise from variable resistance to TH action in tissues expressing Thyroid Hormone Receptor (TR) β (hypothalamus, pituitary, liver) and from thyrotoxic effects in tissues expressing TRα (heart, bone, brain). In symptomatic patients, treatment mainly involves be...

ea0092op-01-06 | Oral Session 1: Highlights in Thyroidology: in Memory of Jacques Dumont | ETA2023

Phenotypic differences in resistance to thyroid hormone alpha: differential recruitment of cofactors by thyroid hormone receptor alpha 1 mutants

Meima Marcel , Wejaphikul Karn , Liao Wenjun , Leeuwenburgh Selmar , Zeneyedpour Lona , Dekker Lennard , van Ijcken Wilfred F. , Luider Theo M. , Peeters Robin , Edward Visser W.

Background: Resistance to thyroid hormone alpha (RTHα), caused by mutations in the T3-receptor alpha 1 (TRα1) isoform, includes growth retardation, intellectual disability, and abnormal thyroid function tests. The current paradigm entails that disease features arise from decreased T3 action in TRα1-expressing tissues. However, also for patients that carry mutations that completely abolish T3-stimulated activity, neurological features vary strongly, ranging from ...