ECE2020 ePoster Presentations Hot topics (including COVID-19) (57 abstracts)
Familial Isolated Hypoparathyroidism caused by AIRE gene mutation
Muhammad Aamir Shahzad , Dr. Elizabeth Ann Brosnan & Muhammad Sajjad Sadiq
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.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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