title: [Primary adrenal insufficiency in children].
abstract: Three boys, aged 5, 11 and 14 years, were admitted due to vomiting, fatigue and dehydration, and a 10-year-old boy was admitted due to circulatory and respiratory insufficiency. Two had Addison's disease, one had a late presentation of congenital adrenal hypoplasia due to a DAX-1 mutation and in one adrenal insufficiency was the first manifestation ofadrenoleukodystrophia. The boys recovered after treatment. It is important to recognise the symptoms of adrenal insufficiency, because treatment can be life-saving. After the initial diagnosis the underlying pathology should be sought.
authors.affiliation: Leids Universitair Medisch Centrum, afd. Kindergeneeskunde, Leiden. rsrijlaarsdam@hotmail.com
authors.forename: R S
authors.initials: RS
authors.lastname: Rijlaarsdam
authors.forename: M M L
authors.initials: MM
authors.lastname: van Diepen
authors.forename: J M
authors.initials: JM
authors.lastname: Wit
mesh_terms: D000224:Addison Disease / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology; D000293:Adolescent; D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins