Arq Bras Endocrinol Metabol
November 2008
Objective: To report the clinical and molecular aspects of a patient with a diagnosis of Resistance to Thyroid Hormone (RTH) harboring the E449X mutation associated with autoimmune thyroid disease and severe neuropsychomotor retardation.
Methods: We present a case report including clinical and laboratory findings, and molecular analysis of a Brazilian patient with RTH.
Results: A 23-year old male presented hyperactivity disorder, attention deficit, delayed neuropsychomotor development, and goiter.