hrp0098p1-66 | Growth and Syndromes 1 | ESPE2024

Turner Syndrome Across Karyotypes: The importance of the short arm of the X chromosome and Neutrophil-Driven Inflammatory Stress

Ochsner Ridder Lukas , Just Jesper , Marie Bruun Johannsen Emma , Magnus Bernth Jensen Jens , Steen Petersen Mikkel , Viborg Helene , Kjærgaard Kenneth , Redder Jacob , Stochholm Kirstine , Skakkebæk Anne , Gravholt Claus

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...