title: High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
abstract: Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic primary adrenal insufficiency. It is important to detect impaired adrenal function because it has treatment implications. Primary adrenal insufficiency was found in 7/24 patients examined, with 4/7 being asymptomatic. Systematic evaluation of adrenal function, through a Synacthen test, should be included in the clinical management of these patients.
authors.forename: Kevin
authors.initials: K
authors.lastname: Berendse
authors.forename: Marc
authors.initials: M
authors.lastname: Engelen
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: A S Paul
authors.initials: AS
authors.lastname: van Trotsenburg
authors.affiliation: Department of Paediatric Neurology, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands. b.t.pollthe@amc.uva.nl.
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D000224:Addison Disease / Q000150:complications / Q000453:epidemiology*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D015995:Prevalence; D015211:Zellweger Syndrome / Q000150:complications*