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Belgian Endocrine Society 2020

Online, Online
11 Nov 2020 - 11 Nov 2020

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BES 2020

A case of a heterozygous inactivating CASR variant with adult-onset symptomatic hypercalcemia requiring extensive surgery

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A rare ABCC8 gene mutation causing severe Maturity-Onset Diabetes of the Young (MODY-12): case report and mini review
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ea0071031 | A case of a heterozygous inactivating CASR variant with adult-onset symptomatic hypercalcemia requiring extensive surgery | BES2020

A case of a heterozygous inactivating CASR variant with adult-onset symptomatic hypercalcemia requiring extensive surgery

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

Publication: L. Veldeman et al. Calcif Tissue Int 2020 Epub 2020 Apr 19We 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 hyperpar...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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