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Case Report
Hyperthyroidism Caused by a Mutation in the Thyrotropin Receptor Gene in Two Brothers
Jae Hyun Kim, Sung Soo Lee, Jung Sub Lim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(3):337-341.   Published online March 15, 2005
Thyrotropin receptor(TSHR) mutations must be considered when congenital hyperthyroidism has persisted, but there has been no evidence for autoimmunity. TSHR mutations leading to constitutive activation of the thyroid gland were identified as the molecular cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report two cases of hyperthyroidism caused by germline TSHR mutation who presented with exessive sweating...


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