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01-07-2020 | Hypoparathyroidism | Case Reports

A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery

Authors: Laurens Veldeman, Saskia Robbrecht, Jeroen Breckpot, Birgit Weynand, Brigitte Decallonne

Published in: Calcified Tissue International | Issue 1/2020

Abstract

We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperparathyroidism. Post-operative histology showed diffuse hyperplasia of all four parathyroid glands along with the presence of intrathyroidal parathyroid tissue. With regard to clinical management this case suggests that familial hypocalciuric hypercalcemia should be classified as an atypical form of primary hyperparathyroidism rather than a distinct entity.

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Title: A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery
Authors: Laurens Veldeman
Saskia Robbrecht
Jeroen Breckpot
Birgit Weynand
Brigitte Decallonne
Publication date: 01-07-2020
Publisher: Springer US
Keywords: Hypoparathyroidism
Hyperparathyroidism
Parathyroidectomy
Parathyroidectomy
Hypercalcemia
Published in: Calcified Tissue International / Issue 1/2020
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI: https://doi.org/10.1007/s00223-020-00693-4

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