hrp0097t13 | Section | ESPE2023

Single-nuclei RNA sequencing reveals potential mechanisms of ovarian insufficiency in 45,X Turner Syndrome

M McGlacken-Byrne Sinead , Del Valle Ignacio , Xenakis Theodoros , Nel Lydia , Liptrot Danielle , Solanky Nita , C Conway Gerard

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...