Przysadkowa oporność na hormony tarczycy u 12-letniej dziewczynki

Hypertyroxinemia with normal TSH concentrations is a difficult to solve clinical problem. Such results of thyroid function tests may suggest pituitary resistance to thyroid hormones. We report a 12-year-old girl with this syndrome who was admitted due to tachycardia, goiter and elevated concentrations of total and free thyroid hormones in the absence of TSH suppression. The key test in the rapid diagnosis was the analysis of thyroid hormone receptor gene THRB mutation. The increasing availability of these tests and their relatively low cost allow to avoid excessive diagnostics, bringing significant clinical and economic benefits.