hrp0084p3-1100 | Pituitary | ESPE2015

Cushing Disease in a Patient with Beckwith–Wiedemann: an Unusual Association

Brioude Frederic , Nicolas Carole , Netchine Irene , Marey Isabelle , Le Bouc Yves , Touraine Philippe

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...