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Resistance to thyroid hormone due to defective thyroid hormone receptor β (RTHβ) is characterized by markedly elevated thyroid hormone levels accompanied by an inappropriately normal or slightly elevated thyroid-stimulating hormone (TSH) level. The most typical clinical manifestations of RTHβ (frequent occurrence of tachycardia, goiter, and hyperkinetic behavior with not often seen mental retardation or short stature) results from euthyroid state in organs where the affected receptor is predominant and hyperthyroidism where thyroid hormones act with the wild type of thyroid receptor β (WT TRβ). We report here an adolescent patient with signs of hyperthyroidism associated with RTHβ (phenotypic pituitary resistance to thyroid hormone, PRTH) and identified known mutation in the TRβ gene (G344E) previously described in this syndrome. Due to the presented symptoms, she required therapy and finally a dopamine agonist (bromocriptine, BC) was used. A cardioselective β-bloker (atenolol) was associated to obtain heart rate normalization. This safe and efficient BC therapy for RTH in a 2-year follow-up seems to confirm our therapeutic choice. Pediatr. Endocrinol. 2016.14.1.54.63-70. © Copyright by PTEiDD 2015 Słowa kluczowe zespół oporności na hormony tarczycy, receptor β dla hormonów tarczycy (TRβ), mutacja, leczenie, bromokryptyna

endokrynologia pediatryczna

Resistance to thyroid hormone in an adolescent patient with signs of hyperthyroidism- efficient treatment with bromocriptine in a 2-yearfollow-up. A case report