AUTHOR=Nesterowicz Miłosz , Anikiej Katarzyna , Borysewicz-Sańczyk Hanna , Zasim Aneta , Trzebuchowski Stanisław , Bąbol-Pokora Katarzyna , Lebensztejn Dariusz , Leszczyńska Elżbieta , Bossowski Artur 

TITLE=Case Report: Autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2025.1655483

DOI=10.3389/fendo.2025.1655483

ISSN=1664-2392

ABSTRACT=Autoimmune polyglandular syndromes refer to a group of disorders characterized by dysfunction in two or more endocrine glands, often accompanied by autoimmune involvement in non-endocrine tissues. A 6-year-old girl was admitted due to suspected diabetes mellitus. The symptoms observed by the parents were polyuria, polydipsia, and an acetone odor. Physical examination revealed a dry oral mucosa, a tongue coated with a white film, ecchymoses on the upper limbs, and a distended abdomen, arched above the chest level, and increased bowel sounds. After comprehensive differential diagnostics, the patient was identified with diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, celiac disease, and thus autoimmune polyglandular syndrome type 4. The case illustrates a very rare combination of coexisting autoimmune disorders. When a patient is diagnosed with one autoimmune disease, it is crucial to screen actively for other autoimmune conditions. It is essential to remember that the clinical presentation of a patient is often the result of overlapping symptoms from multiple conditions.