Autoimmune Polyendocrine Syndrome Type 1: A Rare Case Report And Review Of The Literature

Abstract

Objective: The objective of this article is to present a case report of autoimmune polyendocrine syndrome type 1 (APS-1) diagnosed at a tertiary level hospital. Methods: This report summarizes the clinical presentations, laboratory values, treatments, and follow-up of a patient with APS-1. The diagnosis of APS-1 was based on clinical features and laboratory criteria. Results: The study patient with APS-1 was a 9-year-old girl that presented with recurrent seizure as a consequence of hypocalcemia due to primary hypoparathyroidism; an important component of this syndrome. A computerized tomography scan showed diffuse calcification of both basal ganglia and subcortical structures of the brain. Biochemical study showed features of primary hypothyroidism (free thyroxine = 0.31 ng/dL, free triiodothyronine = 1.0 pg/mL, thyroid-stimulating hormone >150 μIU/mL), primary hypoparathyroidism (serum calcium = 6.2 mg/dL, serum magnesium = 1.8 mg/dL, serum inorganic phosphate = 7.9 mg/dL, serum parathyroid hormone <3 pg/mL), partial adrenal insufficiency (serum cortisol = 179.6 nmol/L, adrenocorticotropic hormone = 528.3 pg/mL), and fasting blood glucose of 3.9 mmol/L. Estimation of thyroid antibody activities revealed elevated anti-thyroglobulin antibody (207 IU/mL) and anti-thyroid peroxidase antibody (>1,000 IU/mL), which was highly suggestive of autoimmune hypothyroidism. The patient was managed with supplemental calcium, activated vitamin D, glucocorticoid, levothyroxine, antifungal medications, and anticonvulsants. Conclusion: Physician awareness of this rare autoimmune polyendocrine disorder can increase its early recognition and treatment, potentially preventing associated fatalities. Abbreviations: APS-1 = autoimmune polyendocrine syndrome type 1; AIRE = autoimmune regulator gene