Endocrine Abstracts

Background: Sequencing of Primary Ovarian Insufficiency cohorts have identified variants in >100 “POI genes” in up to 50% of women but establishing pathogenicity is challenging. Early-onset POI (EO-POI; adolescents) may have a distinct genetic profile.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort. Filtering (QCI) retained variants which were 1) rare/novel (MAF<0.01%), 2) predicted pathogenic in silico, 3)...

Introduction: Ovarian insufficiency in Turner Syndrome (TS) classically presents with absent puberty and primary amenorrhea. However, a proportion attain menarche spontaneously, with later reproductive phenotypes ranging from early-onset secondary amenorrhea, to ongoing menstrual cycles, to spontaneous pregnancies. TS karyotypes include monosomy X (45,X); X chromosome mosaicism (e.g., 45,X/46,XX); and X chromosome rearrangements (e.g., ring X). The additional X chromosome gene...