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PSAT204 Hypoparathyroidism due to a Novel Mutation as the Initial Presentation of Non-classical Autoimmune Polyglandular Syndrome Type 1 by David Cromer; Bridget Sinnott is a Medicine article available to read on EtoBox.

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## Abstract ## Background Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disorder, with an estimated worldwide prevalence of 1 in 80-100,000, resulting from a mutation in the autoimmune regulator (AIRE) gene responsible for immune tolerance. It is characterized by the presence of 2 or 3 cardinal disorders – primary adrenal insufficiency, chronic mucocutaneous candidiasis, and hypoparathyroidism. It is now known that APS-1 presents in 2 forms – the classic autosomal recessive form, which presents early in life with at least 2 of 3 components of the clinical triad, and the non-classical form, which is caused by a dominant heterozygous mutation and usually presents later in life with a milder clinical phenotype and incomplete penetrance.Clinical case:A 29-year-old African American female presented to the clinic with symptoms of twitching, cramping, and paresthesias. She was diagnosed with hypoparathyroidism at age 18 years, which was complicated by hypocalcemic seizures. She was taking calcium and calcitriol with fluctuating calcium levels. Other medical problems included hypertension and anxiety. She denied having frequent infections or history of autoimmune disorders. Sh

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Author

David Cromer; Bridget Sinnott

Publisher

The Endocrine Society

Published

2022

Language

EN

Field

Medicine (Health Sciences)