DIAGNOSIS OF AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE II IN AN IRANIAN PATIENT

BACKGROUND/OBJECTIVE:Autoimmune polyglandular syndromes (APS) are characterized by autoimmune destruction of multiple endocrine organs. The most common form is APS type II, typically presenting with primary adrenal insufficiency, autoimmune thyroid disease and/ or insulin dependent diabetes mellitus.CASE PRESENTATION:A 49-year-old woman presented to the emergency department with complaints of weight loss, nausea and vomiting, progressive fatigability and dizziness. She suffered from hypothyroidism and also premature ovarian failure (POF) since the age of 20.The family history was unremarkable.Liver function tests and ultrasound were normal. She underwent endoscopic evaluation which revealed atrophic gastritis. Eventually, she was diagnosed with pernicious anemia and discharged with supplements. Two months later, she presented with hypotension, recurrent vomiting and abdominal pain. In laboratory findings, hyponatremia, hyperkalemia, and hypocalcemia were identified.There was no evidence of renal tubular disease. Tumor markers (CA19-9, CA-125, CA15-3), viral markers (HBV, HCV, HIV, EBV), wright and 2ME tests were negative. Serum protein electrophoresis was normal. Investigations for a variety of autoantibodies including anti-nuclear (ANA), anti-double-strand DNA (Anti-ds-DNA), anti-mitochondrial (AMA), tissue transglutaminase (TTG), anti-gliadin, and anti-endomysial antibodies as well as complement and immunoglobulin levels (C3, C4, CH50, IgG, IgM) showed normal results except for positive anti-thyroid peroxidase (anti-TPO) antibody and low level of serum IgA (Table S1). Based on the cortisol and ACTH levels in the serum and 24-hour sample of urine, she was finally diagnosed with adrenal insufficiency.Since, the patient is taking low dose prednisolone, fludrocortisone, levothyroxineand nutritional supplements. She is now in a relatively good and stable health status DISCUSSION: Herein, we reported a patient with APS type II who has been treated as an isolated endocrinopathy for several years. As delayed diagnosis of this syndrome can be associated with severe complications, it would be appropriated to consider this condition in a patient who presents with single endocrinopathy.

Keywords:

Autoimmune Polyendocrinopathy Syndrome Type II , APS , Autoimmunity , primary adrenal insufficiency , hypothyroidism