**Patient Information**
This report describes two adolescent individuals with autoimmune polyendocrine syndrome type 1 (APS-1) who developed stage 2 type 1 diabetes (T1D). The first individual, who was not initially diagnosed with APS-1, presented with symptoms prompting early investigation. She exhibited multiple autoimmune features including hypoparathyroidism, adrenal insufficiency, alopecia, and chronic mucocutaneous candidiasis. Her genetic background included compound heterozygous mutations (796C>T and 1337G>A) in the AIRE gene.
The second individual had a pre-existing diagnosis of APS-1, confirmed by homozygosity for the 796C>T mutation in AIRE. She demonstrated diverse autoimmune manifestations such as hypoparathyroidism, enteritis, vitiligo, hypothyroidism, and adrenal insufficiency.
Both patients were on various medications to manage their autoimmune conditions, detailed in supplementary materials. Laboratory evaluation revealed the presence of islet autoantibodies, though the antibody profiles varied between the two individuals.
