New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism.

Philippe J CaronStéphanie BroussaudJuan José Galano-FrutosJavier SanchoFrédérique Savagner

Published in: Clinical endocrinology (2020)

We describe a new variant in the transmembrane region of the hTSHR gene with increased constitutive activity and hCG hypersensitivity in familial gestational hyperthyroidism.

Keyphrases

weight gain
pregnant women
early onset
endothelial cells
drug induced
birth weight
body mass index
pregnancy outcomes
induced pluripotent stem cells
copy number
pluripotent stem cells
genome wide
transcription factor