Adrenal Insufficiency in Peroxisomal Disorders: a Single Institution Case Series

Conclusions: Primary adrenal insufficiency is common in patients with peroxisomal disorder. Based on our data, patients with the compound heterozygous PEX1 pathogenic variants of exon 13 (c.2097dupT and c.2528G>A) tend to have adrenal insufficiency. Aldosterone deficiency, though rare, can occur in PD.
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research