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Autoimmune polyglandular syndromes (APS) consist of a variety of endocrine and non-endocrine disorders. The syndromes are complex and their occurrence in life does not follow any pattern. Early detection of such disorders may prevent many serious clinical consequences which are usually a result of delayed diagnosis. We present the case of a female patient whose clinical symptoms very strongly suggested APS, however neither autoimmune background except elevated anti-thyroid peroxidase and anti-thyroglobulin antibodies of multiglandular deficiency, nor critical mutations in the AIRE gene have been confirmed or detected, yet we identified five polymorphisms and two mutations in exon1 of gene AIRE during 12 years of observation and treatment. Abbreviations:APS -autoimmune polyglandular syndromes APECED -autoimmune polyendocrinopathy candidiasis ectodermal dystrophy TSH -thyrotropin PTH -parathyroid hormone ACTH -adrenocorticotropic hormone aTPO -anti-thyroid peroxidase antibody aTG -anti-thyroglobulin antibody HbA 1c -glycated haemoglobin Anti-GAD -anti-glutamic acid decarboxylase antibody GH -growth hormone LH -luteinising hormone FSH -follicle stimulating hormone ICA -islet cell antibodies IAA -insulin autoantibodies CT -computed tomography 515