title: 21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
abstract: The diagnostic specificity of recombinant 21-hydroxylase autoantibodies (21OH-Ab) for Addison's disease was tested in adult patients with either Graves' disease (GD), insulin-dependent diabetes mellitus (IDDM), or polyendocrinopathy, as well as in healthy controls. Using a radiobinding assay with in vitro translated recombinant human 21-hydroxylase, we found 21OH-Ab in 24/28 (86%) idiopathic Addison patients, and using an immunofluorescence assay we found adrenal cortex autoantibodies (ACA) in 12/28 (43%) patients (P = 0.002). All the 12 ACA-positive sera were also positive for 21OH-Ab and ACA were found in 11/15 (73%) patients with less than 15 years and in 1/13 (8%) patients with 15-38 years of disease duration (P = 0.002). 21OH-Ab were present in 3/92 (3%) patients with GD, in 1/180 (0.6%) with IDDM and in 0/106 healthy subjects. The 21OH-Ab-positive GD and IDDM patients were also positive for ACA. None of 17 patients with polyendocrinopathy, but without Addison's disease, had 21OH-Ab. None of the 180 Belgian IDDM patients had Addison' s disease or developed an adrenal insufficiency at follow up. In two out of three Graves patients, the presence of 21OH-Ab was associated with clinical and biochemical signs of adrenal insufficiency. Of the 89 21OH-Ab-negative patients with GD none had Addison's disease at the time of blood sampling, and 79 were followed up for 5.6-7.5 years and none developed clinical signs of adrenal insufficiency. We conclude that the presence of 21OH-Ab in patients with endocrine autoimmune diseases is highly specific for Addison's disease.
authors.affiliation: Department of Internal Medicine, University of Perugia, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Falorni
authors.forename: S
authors.initials: S
authors.lastname: Laureti
authors.forename: A
authors.initials: A
authors.lastname: Nikoshkov
authors.forename: M L
authors.initials: ML
authors.lastname: Picchio
authors.forename: B
authors.initials: B
authors.lastname: Hallengren
authors.forename: C L
authors.initials: CL
authors.lastname: Vandewalle
authors.forename: F K
authors.initials: FK
authors.lastname: Gorus
authors.forename: C
authors.initials: C
authors.lastname: Tortoioli
authors.forename: H
authors.initials: H
authors.lastname: Luthman
authors.forename: P
authors.initials: P
authors.lastname: Brunetti
authors.forename: F
authors.initials: F
authors.lastname: Santeusanio
mesh_terms: D000224:Addison Disease / Q000453:epidemiology / Q000276:immunology*; D000302:Adrenal Cortex / Q000276:immunology; D000328:Adult; D000918:Antibody Specificity; D001323:Autoantibodies / Q000276:immunology; D001530:Belgium / Q000453:epidemiology; D003922:Diabetes Mellitus, Type 1 / Q000276:immunology; D006111:Graves Disease / Q000276:immunology; D006801:Humans; D007558:Italy / Q000453:epidemiology; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology / Q000276:immunology*; D011237:Predictive Value of Tests; D015995:Prevalence; D011994:Recombinant Proteins / Q000276:immunology; D013255:Steroid 21-Hydroxylase / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D011994:Recombinant Proteins; D013255:Steroid 21-Hydroxylase