Atypical Case of Schmidt's Syndrome in a Young Male.

Abstract

Autoimmune polyendocrine syndrome type 2, also known as Schmidt’s syndrome, is a rare autosomal dominant life-threatening syndrome. It is defined by the presence of Addison’s disease in combination with at least one of the known autoimmune diseases: thyroid autoimmune disease, type 1 diabetes, and hypogonadism. It is more common in middle-aged females and is treatable if diagnosed early. However, in this case, we report Schmidt’s syndrome in a young male without a family history.A 20-year-old male with a past medical history of hypothyroidism, adrenal insufficiency, and type 1 diabetes presented to the emergency department (ED) feeling lethargic, somnolent, and diaphoretic. Laboratory blood tests showed elevated thyroid-stimulating hormone, hyperkalemia of 6.4 mmol/L, and hyponatremia of 131 mmol/l indicating an Addisonian crisis. The patient had low blood glucose (at home: 60 mg/dL, and at ED: 85 mg/dL), hypotensive blood pressure of approximately 85/55 mmHg, and a peaked T-wave on EKG, which were consistent with the diagnosis of Schmidt’s syndrome.Based on the laboratory findings and history, the patient was diagnosed with polyendocrine syndrome Type 2 (Schmidt’s syndrome). The patient was treated for adrenal insufficiency first followed by thyroid insufficiency.Schmidt’s syndrome is a rare disease and difficult to diagnose because the presentation depends on which gland is initially involved. A few cases have been reported in the literature of atypical presentations of Schmidt’s syndrome. Therefore, this case report can contribute to the medical literature on Schmidt’s syndrome, which can help in early diagnosis and improve patient outcomes.