Laurence Duprez

TL;DR: Somatic mutations in the carboxv-terminal portion of the third cytoplasmic loop of the thyrotropin receptor are identified in three out of eleven hyperfunctioning thyroid adenomas, showing that G-protein-coupled receptors are susceptible to constitutive activation by spontaneous somatic mutations and may thus behave as proto-oncogenes.

TL;DR: This new disease entity is the germline counterpart of hyperfunctioning thyroid adenomas, in which different somatic mutations with similar functional characteristics have been demonstrated.

TL;DR: Some degree of stimulation of the thyroid gland by human chorionic gonadotropin is common during early pregnancy, but overt hyperthyroidism may ensue when serum chorionics concentrations are abnormally high.

TL;DR: By direct sequencing of the thyrotropin receptor gene, the substitution of threonine in place of a highly conserved alanine at position 553, in the fourth predicted transmembrane domain was identified, which resulted in extremely low expression at the cell surface as compared with the wild-type receptor.

TL;DR: It is demonstrated that, in a cohort of patients from a moderately iodine deficient area, somatic mutations increasing the constitutive activity of the TSH receptor are the major cause of autonomous hot nodules.