hrp0084p2-563 | Thyroid | ESPE2015

Nonautoimmune Neonatal Hyperthyroidism due to A633G Mutation in the Thyrotropin Receptor Gene

Jung In Ah , Cho Won Kyoung , Jeon Yeon Jin , Chae Hyo Jin , Kim Myung Shin , Suh Byung Kyu

Background: Congenital hyperthyroidism is a rare disease. In most patients with congenital hyperthyroidism are autoimmune forms caused by maternal thyroid-stimulating antibodies. In contrast to autoimmune hyperthyroidism that is transient, nonautoimmune form of congenital hyperthyroidism is persistent and results from activating germline mutations in the thyrotropin receptor (TSHR) gene.Case presentation: We report the case of a Korean male infant with s...