ISSN 1662-4009 (online)

ey0020.6-16 | Food for Thought | ESPEYB20

6.16. Brain structure in autoimmune Addison's disease

A Van't Westeinde , N Padilla , M Siqueiros Sanchez , S Fletcher-Sandersjoo , O Kampe , S Bensing , S Lajic

Brief summary: This study investigated the brain structure in young adult patients with autoimmune Addison’s disease (AAD). It found that patients with AAD had a 4.3% smaller total brain volume but no major differences in subcortical structures compared to healthy controls.Both short- and long-term disruptions in cortisol concentrations and rhythmicity affect brain structure development. Animal studies have shown that both pre- and postnatal disturb...

ey0018.8-10 | New Genes | ESPEYB18

8.10. GWAS for autoimmune addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility

D Eriksson , EC Royrvik , M Aranda-Guillen , AH Berger , N Landegren , H Artaza , AE Hallgren , MA Grytaas , S Strom , E Bratland , IR Botusan , BE Oftedal , L Breivik , M Vaudel , O Helgeland , A Falorni , AP Jorgensen , AL Hulting , J Svartberg , O Ekwall , KJ Fougner , J Wahlberg , BG Nedrebo , P Dahlqvist , PM Knappskog , ASB Wolff , S Bensing , S Johansson , O Kampe , ES Husebye

Nat Commun. 2021 Feb 11;12(1):959. authors report a genome-wide association study (GWAS) of autoimmune Addison’s disease (AAD) in 1223 cases (defined as autoimmune adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified and excluded. They identified 9 genome-wid...

ey0020.6-4 | Important for Clinical Practice | ESPEYB20

6.4. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies

M Aranda-Guillen , EC Royrvik , S Fletcher-Sandersjoo , H Artaza , IR Botusan , MA Grytaas , AE Hallgren , L Breivik , M Pettersson , AP Jorgensen , A Lindstrand , E Vogt , Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group , ES Husebye , O Kampe , ASB Wolff , S Bensing , S Johansson , D Eriksson

Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility in patients with autoimmune Addison’s disease (AAD).Autoimmune Addison’s disease (AAD) is the most common cause of primary adrenal insufficiency (PAI) in adults. Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking (1–3). The aim of this study was t...