title: [Autoimmune polyglandular syndrome type 1-like clinical picture of hereditary hemochromatosis].
abstract: The presence of hereditary hemochromatosis, one of the most common genetic disorders in the Caucasian population, disrupting iron absorption, storage and utilization, results in tissue iron overload. Its clinical presentation is usually complex and differs from patient to patient. In this article, the authors report a case of primary adrenal failure followed by primary hypoparathyroidism in a young male patient, describing diagnostic and treatment strategies undertaken in this patient. Our report shows that the presence of hemochromatosis should always be taken into consideration in the differential diagnosis of autoimmune polyglandular syndrome type 1, a rare autosomal recessive disorder characterized by autoimmune multiorgan disease secondary to mutations in the autoimmune regulator gene (AIRE), and leading to hypofunction of the adrenal cortex and parathyroid glands.
authors.forename: Robert
authors.initials: R
authors.lastname: Krysiak
authors.forename: Bogusław
authors.initials: B
authors.lastname: Okopień
mesh_terms: D000307:Adrenal Gland Diseases / Q000209:etiology; D000328:Adult; D003937:Diagnosis, Differential; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis*