Primary Adrenal Insufficiency in Autoimmune Polyglandular Syndrome Type 1 - A Case Report and Literature Review

Autoimmune Polyglandular Syndrome (APS) type 1 is a rare autosomal recessive disorder secondary to AIRE gene mutation, that is classically characterized by autoimmune hypoparathyroidism, chronic mucocutaneous candidiasis and Addison’s disease. A review of the literature shows that these disease manifestations may present in any order in different age groups. Patients with APS type 1 are also at risk for other endocrinopathies. We present the case of a female patient with a history of APS type 1 and type 1 diabetes who presented with new onset hypoglycemia and decreased insulin requirement and was diagnosed with new onset adrenal insufficiency due to Addison’s disease. One challenge we experienced in this patient diagnosed with concomitant autoimmune hypoparathyroidism and adrenal insufficiency was regulation of serum calcium, as cortisol replacement therapy contributes to urinary calcium loss. The goal calcium level is thus maintained at the lower limit of normal.