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Autoimmune Polyendocrine Syndromes: Recognizing the Overlooked Clusters of Endocrinopathies
Gizem Reyhanoglu1, Divya Madhavarapu2, Antoni Kafrouni3
1Internal Medicine, Tallahassee Memorial HealthCare, Tallahassee, USA.
Cureus
|September 15, 2025
Summary
This study presents two cases of autoimmune polyendocrine syndromes (APS). Genetic testing identified AIRE gene mutation in APS-1, suggesting a nonclassical presentation, while APS-2 involved multiple autoimmune endocrinopathies.
Area of Science:
- Endocrinology
- Genetics
- Immunology
Background:
- Autoimmune polyendocrine syndromes (APS) are rare disorders characterized by autoimmune attacks on endocrine glands.
- Classical APS-1 requires specific endocrinopathies and is linked to AIRE gene mutations.
- APS-2 involves other autoimmune endocrinopathies like type 1 diabetes and autoimmune thyroid disease.
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