hrp0084p2-191 | Adrenals | ESPE2015

Central Adrenal Insufficiency is not a Common Feature in CHARGE Syndrome

Bocca Gianni , Wong Monica , Ravenswaaij-Arts Conny van

Background: CHARGE syndrome (acronym for coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital hypoplasia, and ear abnormalities) is caused by a mutation in the CHD7 gene. CHARGE syndrome shares features with Prader-Willi syndrome, especially regarding hypothalamic-pituitary abnormalities. In Prader-Willi syndrome, central adrenal insufficiency (CAI) during stressful conditions has been described in a large number of pati...