ESPE Abstracts

Background: Molecular defects are rarely detected in Premature ovarian insufficiency (POI) patients.Objective and Hypotheses: We hypothesized that the frequency of causative molecular defects could be higher in cases with early onset of POI. Moreover, the analysis of multiple genes in the same POI group could disclose co-existence of more than one molecular aberration.Method: In 25 subjects, aged 17.1±7 years at POI onset, bid...

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...