hrp0082p3-d1-983 | Thyroid | ESPE2014
Garrahy Aoife
, Grace Mariana
, Stapleton Mary
, Moran Carla
, Chatterjee Krishna
, Murphy Matthew
, O'Connell Susan
Introduction: Resistance to thyroid hormone (RTH) is a rare autosomal dominant condition characterised by tissue-specific insensitivity to thyroid hormone. In 85% of cases the disorder is associated with thyroid hormone receptor β (TRβ) gene mutations.Case report: A 2.6-year-old boy was referred to the Paediatric service with abnormal thyroid function tests (TFTs) (fT4 30.4 pmol/l; RR 1226, fT3 10.2 pmol/l; RR 3.7...