Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep58 | Adrenal and Cardiovascular Endocrinology | ECE2022

Inadequate peroxisomes activity – a rare cause of Adrenal Insufficiency

Chelaru Nicoleta , Trandafir Laura-Mihaela , Ungureanu Christina-Maria , Frasinariu Otilia-Elena , Vasiliu Ioana

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...