Autoimmune polyglandular syndrome type 2

Abstract

Introduction: Autoimmune polyglandular syndrome type 2 (APS-II) is a rare disorder characterized by the coexistence of primary adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. It may also be associated with other endocrine and non-endocrine autoimmune conditions.

Objective: To report a clinical case of autoimmune polyglandular syndrome type 2 and highlight the importance of its timely recognition in clinical practice.

Case presentation: A 33-year-old woman with a history of autoimmune hypothyroidism and vitiligo presented with constitutional symptoms and cutaneous manifestations. Evaluation revealed adrenal crisis, hypergonadotropic hypogonadism, the presence of positive antithyroid antibodies, and thyroid dysfunction, findings consistent with APS-II. Treatment with glucocorticoids, mineralocorticoids, and hormone replacement therapy was initiated, with progressive clinical improvement.

Discussion: Autoimmune polyglandular syndrome type 2 is a challenging diagnosis due to its heterogeneous and progressive presentation. A high index of suspicion is required, especially in patients with multiple autoimmune conditions. The combination of clinical manifestations and hormonal studies allows for diagnosis and guides appropriate treatment. Although less common, hypergonadotropic hypogonadism may occur as part of the clinical spectrum.

Conclusion: This case underscores the importance of considering autoimmune polyglandular syndrome type 2 in patients with multiple autoimmune diseases. Early diagnosis enables appropriate treatment and helps prevent serious complications. Additionally, it contributes to raising awareness of this condition in Colombia, where reports remain scarce.