CASE REPORT article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1655483
Case report: autoimmune polyglandular syndrome type 4 involving diabetes mellitus type 1, autoimmune hepatitis, immune thrombocytopenia, and celiac disease
Provisionally accepted- 1Medical University of Bialystok, Bialystok, Poland
- 2Uniwersytet Medyczny w Lodzi, Łódź, Poland
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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.
Keywords: autoimmune polyglandular syndrome type 4, APS-4, diabetes mellitus type 1, Autoimmune Hepatitis, Celiac Disease, immune thrombocytopenia, rare disease, case report
Received: 28 Jun 2025; Accepted: 25 Sep 2025.
Copyright: © 2025 Nesterowicz, Anikiej, Borysewicz-Sańczyk, Zasim, Trzebuchowski, Bąbol-Pokora, Lebensztejn, Leszczyńska and Bossowski. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Miłosz Nesterowicz, milosz.nesterowicz@gmail.com
Artur Bossowski, artur.bossowski@umb.edu.pl
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