High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

[zellweger syndrome]

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 .