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Endocrine Abstracts (2020) 70 EP547 | DOI: 10.1530/endoabs.70.EP547

Mayo University Hospital, Endocrine and Diabetes, Castlebar, Ireland


Hypoparathyroidism is an uncommon condition characterized by reduced parathyroid hormone production resulting in hypocalcaemia with its clinical manifestations. A minority of cases are familial and exist as either isolated disease or as part of well described, multisystem syndromes. Mutation in the Autoimmune regulator gene (AIRE) results in Autoimmune Polyglandular Syndrome type 1 featuring hypoparathyroidism as a part of the syndrome. This case reported herein describes a mutation in AIRE leading to Isolated hypocalcaemia with an otherwise normally functioning endocrine glands.

Volume 70

22nd European Congress of Endocrinology

Online
05 Sep 2020 - 09 Sep 2020

European Society of Endocrinology 

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