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Endocrine Abstracts (2012) 29 MTE11

ICEECE2012 Meet the Expert Sessions (1) (32 abstracts)

Diagnosis and treatment considerations in autoimmune polyendocrine syndrome type 1

O. Kampe


Uppsala University, Uppsala, Sweden.


Autoimmune polyendocrine syndrome type I (APS-1) is a rare autosomal recessive disorder which starts in early childhood, typically associated with chronic mucocutaneous Candidiasis. Patients with APS-1 later develop autoimmunity against endocrine tissues such as the adrenal cortex and the ovaries, and non-endocrine tissues such as the liver and melanocytes. The disease is caused by mutations in the autoimmune regulator (AIRE) gene that encodes a 54 kDa protein expressed in thymic medullary epithelial cells and in certain peripheral lymphoid cells.

APS-1 patients display autoantibodies directed against proteins in the affected tissues. These autoantibodies are often predictive for the development of organ failures such as adrenal insufficiency or premature ovarian failure where autoantibodies reactive to 21-hydroxylase and side-chain cleavage enzyme, respectively, can be detected. Recently, the discovery of autoantibodies against IL-22 may provide an explanation to the mucocutaneous Candidiasis, another autoimmune component of the syndrome.

Due to its rarity the diagnosis of APS-1 can easily be missed. Methods to diagnose, the clinical usefulness of autoantibody analyses, the recommended follow-up of these patients and the management of complications will be discussed.

Declaration of interest: The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details are unavailable.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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