ea0099ep736 | Adrenal and Cardiovascular Endocrinology | ECE2024
Aranda-Guillen Maribel
, Botusan Ileana R.
, Fernando Venuja
, Royrvik Ellen
, Susanne Boe Wolff Anette
, Johansson Stefan
, Sverre Husebye Eystein
, Bensing Sophie
, Kampe Olle
, Eriksson Daniel
Background: Primary adrenal insufficiency (PAI) is sometimes misdiagnosed as autoimmune Addisons disease (AAD), affecting clinical management and genetic counselling. We tested a polygenic risk score (PRS) for AAD (PRS14AAD) as a tool to reevaluate disease etiology and identify patients misdiagnosed with AAD.Methods: We calculated the PRS14AAD in a cohort of patients diagnosed with AAD but lacking 21-hydroxylase autoantibodies...