Article
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
Endocrine - 1 Dec 2018
Ramos Luciano S, Kizys Marina M L, Kunii Ilda S, Spinola-Castro Angela M, Nesi-França Suzana, Guerra Ricardo A, Camacho Cleber P, Martins João R M, Maciel Rui M B, Dias-da-Silva Magnus R, Chiamolera Maria I
Abstract excerpt
AIM: Resistance to thyroid hormone (RTH), characterized by persistent hyperthyroxinemia with non-suppressed thyrotropin (TSH), is mostly caused by mutations in thyroid hormone receptor beta gene (THRB). Two differential diagnoses should be considered due to similar clinical and laboratory findings: TSH-producing pituitary adenoma (TPA) and Familial Dysalbuminemic Hyperthyroxinemia (FDH). The aim of this study is...
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