%0 Journal Article %A Bassam S. Bin-Abbas %A Muhammad Faiyaz-Ul-Haque %A Abdullah H. Al-Fares %A Sulaiman S. Al-Gazlan %A Jalaluddin A. Bhuiyan %A Saleh Z. Al-Muhsen %T Autoimmune polyglandular syndrome type 1 in Saudi children. %D 2010 %J Saudi Medical Journal %P 788-792 %V 31 %N 7 %X OBJECTIVES: To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 (APS-1) in a Saudi population.METHODS: The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years (January 2000 to December 2009). The age of the affected children ranged from 2-17 years. The included patients had at least 2 out of the 3 major clinical diagnostic criteria of APS-1.RESULTS: Fourteen children had neonatal chronic mucocutaneous candidiasis affecting the nails and mouth. The most commonly presenting endocrine disease among APS-1 patients was hypoparathyroidism. Eight patients had autoimmune Addison's disease. Hypothyroidism was diagnosed in 3 patients, and 9 patients had alopecia universalis. Other endocrine and autoimmune disorders were infrequently seen including type 1 diabetes, growth hormone deficiency, celiac disease, autoimmune hepatitis, and keratoconjuctivitis.CONCLUSIONS: Autoimmune polyglandular syndrome type 1, although an uncommon disorder in Saudi children affects multiple endocrine glands, and is associated with several autoimmune diseases where alopecia universalis is a common finding. %U https://smj.org.sa/content/smj/31/7/788.full.pdf