hrp0086rfc15.1 | Late Breaking | ESPE2016

A Novel Homozygous Mutation in the Domain AF-2 of Alpha Estrogen Receptor Gene (ESR1), Generating a Bio-Inactive ERα Mutant, Resulting in Estrogen Resistance with Complex Metabolic Phenotype

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguyer Patrick , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Context: The mouse ERα−/− knock-out model and rare human ESR1 gene mutations identified to date have demonstrated crucial role of ERα in control of energy homeostasis and glucose metabolism. Subjects with ERα deficiency show features of estrogen resistance (ESTRR) with continuous linear growth in adulthood.Patient: We describe a 20-year-old female, with unknown family history, who presented...