ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Ann Endocrinol (Paris). 2018; 79(3): 157–163.This review summarizes the current knowledge regarding the genetic susceptibility to autoimmune Addison’s disease (AAD) and the genes outside the MHC complex associated with AAD. Fourteen genes (CTLA-4, PD-L1, PTPN22, NALP1, STAT4, CIITA, BACH2, FCRL3, GPR174, GATA3, NFATC1, CLEC16A, CYP27B1, and VDR) have ...

Nat Rev Endocrinol. 2022; 18(7): 399-412. PMID: 35411072https://pubmed.ncbi.nlm.nih.gov/35411072/Brief Summary: This review summarizes the current knowledge and understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders.Autoimmune Addison’s disease (AAD) is caused by the destruction of the adrenal cortex...

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...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(4):1696-1703How we measure steroids has been a constant debate in recent years because current routinely used immunoassays lack both specificity and sensitivity. Therefore, chromatographic, mass spectrometric methods have been pushed forward for their higher sensitivity and specificity, and for their advantage to provide multiple measu...

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...