Objective: 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).