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