[Atypical clinical presentation of autoimmune polyglandular syndrome type 4]

Autoimmune polyglandular syndromes (APS) are rarely diagnosed conditions characterised by the combination of two or more autoimmune endocrinopathies and nonendocrine autoimmunopathies. They comprise a wide spectrum of autoimmune disorders, differing in the immunologic features of their pathogenesis. Based on their clinical manifestation, APS are divided into four different types. Primary hypoparathyroidism is characteristic for APS type 1, the major disease components of which are adrenal insufficiency, hypoparathyroidism, and candidiasis. However, the literature is sparse regarding the presence of hypoparathyroidism in the remaining types of APS. In our article, we present a case of a young female with primary hypoparathyroidism and a family history of autoimmune disorders who after several years developed type 1 diabetes. She also had anti-transglutaminase and anti-parietal cell antibodies. This constellation of two endocrine disorders and non-endocrine abnormalities led to the diagnosis of APS type 4. We show in details diagnostic and treatment strategies undertaken in our patient and their impact on the course of APS.