21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry.
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.
Falorni
A
A
Department of Internal Medicine, University of Perugia, Italy.
Laureti
S
S
Nikoshkov
A
A
Picchio
M L
ML
Hallengren
B
B
Vandewalle
C L
CL
Gorus
F K
FK
Tortoioli
C
C
Luthman
H
H
Brunetti
P
P
Santeusanio
F
F
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*
D001323:Autoantibodies; D011994:Recombinant Proteins; D013255:Steroid 21-Hydroxylase