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Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl — 12 years of observation
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Abstract
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. (Endokrynol Pol 2014; 65 (6): 514–518)
Abstract
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. (Endokrynol Pol 2014; 65 (6): 514–518)
Keywords
autoimmune polyglandular syndrome; hypoparathyroidism; ovarian failure; hypopituitarism; gene AIRE
About this articleTitle
Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl — 12 years of observation
Journal
Issue
Article type
Case report
Pages
514-518
Published online
2014-12-31
Page views
1564
Article views/downloads
1693
DOI
10.5603/EP.2014.0070
Bibliographic record
Endokrynol Pol 2014;65(6):514-518.
Keywords
autoimmune polyglandular syndrome
hypoparathyroidism
ovarian failure
hypopituitarism
gene AIRE
Authors
Ewa Barg
Małgorzata Skarżynska
Agnieszka Pollak
Ryszard Ślęzak
Ewa Głąb
Elżbieta Petriczko
Anita Józwa
Maria M. Sąsiadek
