ESPE Abstracts (2018) 89 P-P1-006

Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia

Leif Karlssona, Michela Barbaroa,b, Ewoud Ewinga, David Gomez-Cabreroa,c,d & Svetlana Lajica


aKarolinska Institutet, Stockholm, Sweden; bKarolinska University Hospital, Stockholm, Sweden; cKings Collage, London, UK; dUniversidad Pública de Navarra, Pamplona, Spain


Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.

Objective and hypotheses: We investigated DNA methylation in patients with CAH. We hypothesized that the epigenetic programming in patients with CAH is affected.

Method: We used CD4+T-cell DNA from patients with CAH, and population controls (n=63). The Infinium HumanMethylation450 BeadChip array was used to measure locus specific DNA methylation. Statistical analyses were performed in R.

Results: By comparing DNA methylation between patients with CAH and population controls we identified differential methylation in peripheral T-cells. Changes were associated with CAH per se, but we also identified significant correlations between DNA methylation and the subject’s phenotype (salt-wasting,simple virilising or unaffected) as well as the CYP21A2 genotype.

Conclusion: Our findings suggest that DNA methylation is altered in patients with CAH. These changes may be relevant for the health of the individual.

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