Autoimmune Polyendocrine Syndromes: Recognizing the Overlooked Clusters of Endocrinopathies

The first case describes a patient who underwent genetic testing for autoimmune polyendocrine syndrome (APS), revealing a change in the autoimmune regulator (AIRE) gene, c.1066C>T. To diagnose classical APS-1, two of the following endocrinopathies are required: hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis. Due to the patient's genetic mutation and high susceptibility to developing other endocrinopathies later in life, he is presumed to have a nonclassical APS-1 presentation given his genetic testing. The second case discusses APS-2. This patient has a history of autoimmune diabetes, primary hypogonadism, and hypothyroidism. APS-2 is diagnosed when a patient has two of the following endocrinopathies: adrenal insufficiency, autoimmune thyroid disease, and type 1 diabetes. This patient has a strong family history of autoimmune endocrinopathies. With more knowledge and recognition of APS, complications and detrimental outcomes can be more easily predicted and prevented.