MedGen

Generalized thyroid hormone resistance is characterized by elevated serum levels of free thyroid hormones with inappropriately elevated thyroid-stimulating hormone (TSH) as well as clinical and biochemical evidence of decreased thyroid hormone action. Affected individuals also show unresponsiveness to large doses of exogenous thyroid hormones (summary by Parrilla et al., 1991). [from OMIM]

A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. [from ORDO]

Abnormal thyroid hormone metabolism-3 (THMA3) is characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH (see 188540) and free T3 levels. Patients also show low plasma selenium levels and reduced levels of stress-related selenoproteins (Schoenmakers et al., 2016; Geslot et al., 2021). For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698). [from OMIM]

An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. [from HPO]