Identification of a New Thyrotropin Receptor Germline Mutation (Leu629Phe) in a Family with Neonatal Onset of Autosomal Dominant Nonautoimmune Hyperthyroidism

Abstract excerpt

Constitutively activating germline mutations in the TSH receptor (TSHR) gene have been identified as a cause of autosomal dominant nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. We report a 10-yr-old boy and his 31-yr-old mother, both presenting with a history of recurring toxic thyroid hyperplasia and no evidence for autoimmune thyroid disease. In the boy, onset of hyperthyroidism and...