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hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

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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...

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ESPE Abstracts

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

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

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