ESPE Abstracts

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

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...