Searchable abstracts of presentations at key conferences in endocrinology

ea0014p346 | (1) | ECE2007

Genotype/phenotype relation for toxic thyroid nodules with or without TSH receptor mutations

Gozu Hulya , Mueller Sandra , Bircan Rifat , Krohn Knut , Sargin Mehmet , Sargin Haluk , Gezen Cem , Erginer Turgay , Karadayi Nimet , Paschke Ralf

Constitutive activation of the cAMP pathway by activating TSHR mutation stimulates both thyrocyte proliferation and function. Thus they lead to formation of toxic thyroid nodules (TTNs) and ultimately hyperthyroidism. The in vitro activity of the various TSH-receptor mutation varies from 2–7 fold cAMP increase over the wild type TSH receptor. One previous study invrestigated a possible genotype to phenotype relation in TTNs with somatic TSHR mutation with a negativ...