Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

Giuseppe Maltese, Louise Izatt, Barbara M. McGowan, Kashif Hafeez, Johnathan G. Hubbard, Paul V. Carroll

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We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.

Original languageEnglish
Pages (from-to)1587-1590
Number of pages4
JournalClinical Case Reports
Issue number10
Early online date17 Aug 2017
Publication statusPublished - Oct 2017


  • Familial hypocalciuric hypercalcemia, homozygous mutation, hypercalcemia, pregnancy


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