Type I Polyglandular Autoimmune Syndrome Differential Diagnoses

Updated: Nov 11, 2021
  • Author: Saleh A Aldasouqi, MD, FACE, ECNU; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Diagnostic Considerations

Chromosomal disorder (45,O; trisomy 21)

Congenital rubella


Kearns-Sayre syndrome - Possibly occurring with myopathic disease with hypoparathyroidism, primary hypogonadism, type 1 diabetes mellitus, and hypopituitarism, with or without cardiac conduction defects

Myotonic dystrophy - Hypogonadism and occasionally diabetes

Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) - Usually occurring in Japanese patients

Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD])

Thymoma - Malignant more frequently than benign and associated with myasthenia gravis; as many as 50% of cases occur in people older than 40 years; possibly associated with Cushing, Graves, or Addison disease

Other conditions that may give rise to any of the components of the syndrome if solely present

Differential Diagnoses