ea0085p93 | Thyroid | BSPED2022
, Wallace Helen
, Graham Una
Thyroid hormone resistance is a rare condition, caused by mutations of the thyroid hormone receptor beta (THRB) gene, inherited in an autosomal dominant manner, resulting in decreased tissue sensitivity to thyroid hormone action, leading to high FT4 levels with normal TSH levels. We present a case of thyroid hormone resistance, initially misdiagnosed and treated as hyperthyroidism. An 8 year old girl was referred due to poor appetite, FT4 level was elevated (38.5 pmol/l) with ...