Searchable abstracts of presentations at key conferences in endocrinology

ea0078p61 | Thyroid | BSPED2021

A rare variant of thyroid hormone receptor beta (THR β) gene mutation in a pre-school child

Sakremath Rajesh , 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...