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- W3203627142 abstract "Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Two thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation. According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1. This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly 3 decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only 1 component of APS1 appear." @default.
- W3203627142 created "2021-10-11" @default.
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- W3203627142 date "2021-09-23" @default.
- W3203627142 modified "2023-10-03" @default.
- W3203627142 title "Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type-1" @default.
- W3203627142 doi "https://doi.org/10.1210/jendso/bvab151" @default.
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