hrp0098p1-66 | Growth and Syndromes 1 | ESPE2024
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...