A Novel Thyroid Hormone Receptor-β Mutation That Fails to Bind Nuclear Receptor Corepressor in a Patient as an Apparent Cause of Severe, Predominantly Pituitary Resistance to Thyroid Hormone

Abstract excerpt

CONTEXT: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of variable tissue hyporesponsiveness to thyroid hormone (TH). OBJECTIVE: We report a newborn who presented with severe RTH (Mkar) with serum TSH 1500 mU/liter and free T(3) greater than 50 pm (normal 3.1-9.4) and free T(4) 25.3 pm (normal 12-22). We hypothesized that the RTH was due to reduced ligand binding and/or abnormal...

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