ESPE Abstracts

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

Background: Sequencing of Primary Ovarian Insufficiency (POI) cohorts have identified variants in >100 “POI genes” in up to 50% of women. Establishing pathogenicity of these variants is challenging. Whether early-onset POI (EO-POI; adolescent-onset) has a unique genetic profile remains unknown.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort (sporadic and familial) and unaffected family...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...