hrp0097p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

COX deficiency: undescribed endocrinological features in three patients with SCO1 mutation

Barbato Alessandro , Gori Giulia , Sacchini Michele , Pochiero Francesca , Stagi Stefano

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...