Searchable abstracts of presentations at key conferences in endocrinology

ea0056oc1.1 | Benign thyroid diseases | ECE2018

Familial gestational hyperthyroidism caused by Val597ile mutant of TSH receptor gene with human chorionic gonadotropin hypersensitivity

Caron Philippe , Susini Marion , Savagner Frederique

Context: Familial gestational hyperthyroidism caused by mutations of TSH receptor gene, hypersensitive to hCG, is rare. Only two mutations at the same amino acid (lys183Arg, Lys183Asn) in the leucine-rich region of the extracellular N-terminal domain of the TSH receptor have been reported.Patients: A 38-year-old woman was seen during the first trimester of her second pregnancy for weight loss (5 kgs), nausea and vomiting. Thyroid function test revealed t...