Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp219 | Reproduction | ECE2018

Mitochondrial phenotype of FOXL2 variants associated with Blepharophimosis, Ptosis and Epicantus Inversus Syndrome (BPES)

Ferrari Ilaria , Rossetti Raffaella , Bigoni Stefania , Petrone Lisa , Persani Luca

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...