Table of Contents

Gain-of-function mutations

Familial non-autoimmune hyperthyroidism or hereditary toxic thyroid hyperplasia

Somatic mutations: autonomous toxic adenomas

Structure-function relationships of the TSH receptor, as deduced from activating mutations

Familial gestational hyperthyroidism

Loss of function mutations

Clinical cases with the mutations identified

Resistance to thyrotropin not linked to the TSH receptor gene

Acknowledgments