hrp0098rfc8.3 | Adrenals and HPA Axis 2 | ESPE2024

Multi-hit Model of Primary Adrenal Insufficiency in CPOX mutations

Kelestemur Elif , Hakki Yarar Murat , Gurpinar Tosun Busra , Karaca Meryem , Mine Yilmaz Goler Ayse , Karademir Yilmaz Betul , Gokcay Gulden , Guran Tulay

Context: Inherited mitochondrial diseases are a group of disorders in which redox homeostasis is disrupted. The adrenal gland is particularly susceptible to oxidative stress associated with mitochondrial dysfunction. Furthermore, all adrenal steroid hormones are synthesized within the mitochondria. Therefore, novel genetic mitochondrial diseases emerge as rare causes of primary adrenal insufficiency (PAI).Objective: Char...