Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active In Vitro Activities than Familial Thyrotropin Receptor Mutations

Lueblinghoff J., Eszlinger M., Jaeschke H., Mueller S., BİRCAN R., Gozu H. , ...More

THYROID, vol.21, no.3, pp.221-229, 2011 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.1089/thy.2010.0312
  • Title of Journal : THYROID
  • Page Numbers: pp.221-229


Background: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. Somatic TSHR mutations are associated with toxic thyroid nodules (TTNs). The objective of the study was to define a relation of the clinical appearance and the in vitro activity (IVA) of the TSHR mutations described by several authors for these thyroid disorders.