ECEESPE2025 Rapid Communications Rapid Communications 13: Adrenal and Cardiovascular Endocrinology Part 2 (6 abstracts)
Primary adrenal insufficiency in the young, consider APS-1
Isil Kucuka 1 , Lars Breivik 1,2 , Marianne Øksnes 1,2 , Marianne Grytaas 2 , Kari Lima 3 , Anders Jørgensen 4,5 , Bergithe Oftedal 1,2 , Anette Bøe Wolff 1,2 & Eystein Sverre Husebye 1,2
1University of Bergen, Faculty of Medicine, Department of Clinical Science, Bergen, Norway; 2Haukeland University Hospital, Department of Medicine, Bergen, Norway; 3Akershus University Hospital, Endocrinology, Akershus, Norway; 4Oslo University Hospital, Department of Endocrinology, Oslo, Norway; 5University of Oslo, Faculty of Clinical Medicine, Oslo, Norway
JOINT744
Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare severe organ-specific autoimmune disease often presenting in childhood. A clinical diagnosis is made by the presence of at least two of the main manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency (PAI). Other relatively specific manifestations are enamel hypoplasia and severe alopecia. The phenotypic variation is huge overlapping with the much more common autoimmune polyendocrine syndrome type-2 (APS-2). Thus, there is a significant risk of delayed or missed diagnosis.
Objective: We investigated presentation of PAI in patients with APS-1 and -2 and isolated PAI to look for overlapping features, and to see if the diagnosis APS-1 had been missed.
Methods: Forty-eight Norwegian patients with APS-1 (age range 2-79 years) were compared with 1001 patients with isolated PAI or APS-2 (age range 5-100 years). APS-1 was confirmed by presence of disease-causing mutations in the autoimmune regulator gene (AIRE). Clinical examinations and assay of autoantibodies were conducted longitudinally.
Results: PAI was present in 35/48 (73%) APS-1 patients with a mean onset of 14.9 years (range 4-55 years) compared with 35 years (range 1-86 years) in the isolated PAI/APS-2 group. PAI was diagnosed after 20 years of age in 5 APS-1 patients and 55 years of age in one patient. Three of these already had developed hypoparathyroidism and therefore were clinically diagnosed with APS-1. The other three had no apparent APS-1-like manifestations, but they were positive for interferon omega autoantibodies on screening. The APS-1 diagnoses were subsequently confirmed by finding disease-causing mutations in AIRE.
Conclusions: PAI can present late in APS-1 without the other main manifestations. In patients younger than 30 years of age at PAI debut, APS-1 should be suspected by searching for other autoimmune manifestations and ideally by testing for interferon omega autoantibodies.
Volume 110
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Endocrine Abstracts
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