Abstract
Objective: 22q11.2 Deletion syndrome (22q11.2DS) is the most common chromosome deletion syndrome and increases the risk of autoimmune conditions, including thyroid disease, cytopenias, and juvenile rheumatoid arthritis. We report two unusual cases of pediatric patients with 22q11.2DS who subsequently developed type 1 diabetes (T1D). Methods: Clinical and laboratory data were isolated and are presented. Results: A 7-year-old male with genetically confirmed 22q11.2DS and related characteristics presented with polyuria, nocturia, and polydipsia and was found to have an elevated hemoglobin A1c of 9.8% (84 mmol/mol) with subsequent positive pancreatic autoantibodies (islet antigen 2 [IA-2] antibody and glutamic acid decarboxylase antibody). Screening labs for other autoimmune conditions identified thyroid antibodies, but thyroid function has been normal thus far. A 4-year-old female with genetically confirmed 22q11.2DS and associated features presented in severe diabetic ketoacidosis and was found to have one ...
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
