hrp0082p3-d1-983 | Thyroid | ESPE2014

Resistance to Thyroid Hormone Syndrome from Childhood to Adulthood: Variation in Symptoms and Thyroid Function

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 12–26, fT3 10.2 pmol/l; RR 3.7&#1...