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ea0099ep736 | Adrenal and Cardiovascular Endocrinology | ECE2024

Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

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...

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Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

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