open access

Vol 65, No 6 (2014)
Case report
Published online: 2014-12-31
Submitted: 2015-01-02
Accepted: 2015-01-02
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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

Ewa Barg, Małgorzata Skarżynska, Agnieszka Pollak, Ryszard Ślęzak, Ewa Głąb, Elżbieta Petriczko, Anita Józwa, Maria M. Sąsiadek
DOI: 10.5603/EP.2014.0070
·
Endokrynologia Polska 2014;65(6):514-518.

open access

Vol 65, No 6 (2014)
Case report
Published online: 2014-12-31
Submitted: 2015-01-02
Accepted: 2015-01-02

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)

Get Citation

Keywords

autoimmune polyglandular syndrome; hypoparathyroidism; ovarian failure; hypopituitarism; gene AIRE

About this article
Title

Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl — 12 years of observation

Journal

Endokrynologia Polska

Issue

Vol 65, No 6 (2014)

Pages

514-518

Published online

2014-12-31

DOI

10.5603/EP.2014.0070

Bibliographic record

Endokrynologia Polska 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

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