Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.

摘要: Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential death. A survey was performed among Paediatric Endocrinologists Germany report on deceased CAH. Our covered whole of Germany. The participating centres reported 14 cases death (9 female, 5 male) from 1973 until 2004, but no deaths thereafter. 11 had SW form 3 simple virilizing (SV) form. All patients were glucocorticoid replacement, forms additionally mineralocorticoid replacement. age at varied between 6 weeks 16.5 years. Seven died before introduction general neonatal screening, 7 Before death, clinical signs impending crisis nonspecific. Five developed hypoglycaemia convulsions cerebral oedema. Half home. hydrocortisone dosage only doubled two cases. According assessments by attending centres, almost all could be related an inadequate administration stress doses hydrocortisone. Since CAH 2005 on, we assume effectiveness educational programs over past years.