ESPE Yearbook of Paediatric Endocrinology

Abstract: N Engl J Med. 2018 Jun 28;378(26):2543–2544.In brief: This article reviews important developments and major advances in characterizing autoimmunity in patients with autoimmune polyendocrine syndromes, such as the identification of new autoantibody targets associated with distinct diseases and their manifestations. The authors also provide an up to date review...

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...

To read the full abstract: PLoS Genet. 2019 Dec 16;15(12):e1008530.In brief: This genome-wide association study in a cohort of healthy infants shows that, already during the first two years of life, genetic variation in the genes encoding Vitamin D binding protein and Vitamin D 25-hydroxylase correlate with serum 25(OH)D levels and responses to vitamin D supplementation.<p clas...

Nat Commun. 2021 Feb 11;12(1):959.https://pubmed.ncbi.nlm.nih.gov/33574239/The 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...

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...