ea0078p61 | Thyroid | BSPED2021
, McCrea Kathryn
, Patel Kinari
, Pogson Linda
, Mohamed Zainaba
Introduction: Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterised by refractoriness of target tissue to thyroid hormone. Over 80% of cases are due to mutations in the thyroid hormone receptor beta (THR β) gene with over 100 mutations identified to date. The clinical manifestations vary from common feature as goitre to less common sinus tachycardia, learning disabilities, growth and developmental delay. Aim: We rep...