Open AccessMaking (mis) sense of asymptomatic marked hypercalcemia in pregnancy
Author(s) -
Maltese Giuseppe,
Izatt Louise,
McGowan Barbara M.,
Hafeez Kashif,
Hubbard Johnathan G.,
Carroll Paul V.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1074
Subject(s) - medicine , pregnancy , asymptomatic , hypercalcaemia , primary hyperparathyroidism , calcium , differential diagnosis , mutation , endocrinology , pediatrics , bioinformatics , pathology , genetics , gene , biology
Key Clinical Message 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.