Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disorder which is characterized by multiple organ-specific autoimmunity as well as ectodermal manifestations. Design and Setting: A retrospective, hospital-based study conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia in the period January 1995 and December 2014. Material and Methods: Medical records of children with the diagnosis of autoimmune endocrinopathy were retrospectively reviewed. Data included age, sex, family history, clinical characteristics and results of relevant laboratory investigations. Results: Five patients from three families were diagnosed with APS-1. All patients had hypoparathyroidism at variable onset, ranging from two to ten years while only four patients had autoimmune adrenal-deficiency (AAD). Several autoimmune disorders were associated. Conclusion: Autoimmune polyendocrine syndrome (APS-1) is not an uncommon in Saudi children. It is associated with several autoimmune disorders.
