Prevalence of Thyrotropin Receptor Germline Mutations and Clinical Courses in 89 Hyperthyroid Patients with Diffuse Goiter and Negative Anti-Thyrotropin Receptor Antibodies

The prevalence of nonautoimmune hyperthyroidism with TSH receptor mutations is lower than that of latent Graves' disease in TRAb-negative patients with hyperthyroidism. However, all affected patients with a TSH receptor mutation showed persistent hyperthyroidism regardless of subclinical or overt hyperthyroidism throughout the follow-up.