ea0092op-07-03 | Oral Session 7: Thyroid hormone receptors | ETA2023
, Agostini Maura
, Moran Carla
, Chatterjee Krishna
, Persani Luca
Mutations in THRA, a ligand-inducible transcription factor, cause Resistance to Thyroid Hormone α (RTHα). RTHα manifests with features of hypothyroidism (skeletal dysplasia and growth retardation, neurocognitive impairment, low metabolic rate, reduced intestinal transit) reflecting hormone resistance in TRα-expressing tissues, but associated paradoxically with near-normal circulating TH levels. The lack of clear-cut, abnormal thyroid function tests...