Searchable abstracts of presentations at key conferences in endocrinology

ea0036P81 | (1) | BSPED2014

A case report of TRβ mutation leading to raised T4 levels presenting with abnormal body habitus

Tomlinson N D , Banerjee I , Chatterjee K , Smith T D , Mukherjee A

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRĪ² mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...