{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:10:19Z","timestamp":1772118619980,"version":"3.50.1"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T00:00:00Z","timestamp":1587945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant disorders caused by dysfunction of the calcium sensing receptor (CaSR) and its downstream signaling proteins, leading to generally asymptomatic hypercalcemia. During pregnancy, distinguishing FHH from primary hyperparathyroidism (PHPT) is important, as the latter is associated with adverse outcomes and can be treated surgically during pregnancy, whereas the former is benign. This case report highlights the difficulties in diagnosing FHH during pregnancy. A 32\u2010year\u2010old woman was found to have asymptomatic hypercalcemia at 14\u2010weeks\u2019 gestation. Investigations showed a corrected calcium (cCa) of 2.61\u2009mmol\/L (2.10 to 2.60), ionized Ca (iCa) of 1.40\u2009mmol\/L (1.15 to 1.28), 25OHD of 33\u2009nmol\/L (75 to 250), and PTH of 9.5\u2009pmol\/L (1.5 to 7.0). The patient was treated with 2000\u2009IU cholecalciferol daily with normalization of 25OHD. The urine calcium \/ creatinine clearance ratio (CCCR) was 0.0071, and neck US did not visualize a parathyroid adenoma. Upon a retrospective review of the patient's biochemistry from 2\u2009years prior, hypercalcemia was found that was not investigated. The patient was monitored with serial iCa levels and obstetric US. She delivered a healthy boy at 38\u2010weeks\u2019 gestation. Postnatal iCa was 1.48\u2009mmol\/L and remained elevated. Her son had elevated iCa at birth of 1.46\u2009mmol\/L (1.15 to 1.33), which rose to 1.81\u2009mmol\/L by 2\u2009weeks. He was otherwise well. Given the familial hypercalcemia, a likely diagnosis of FHH was made. Genetic testing of the son revealed a missense mutation, NM_000388.3(CASR):c.2446A\u2009&gt;\u2009G, in exon 7 of the CaSR, consistent with FHH type 1. To our knowledge, there are only three existing reports of FHH in pregnancy. When differentiating between FHH and PHPT in pregnancy, interpretation of biochemistry requires an understanding of changes in Ca physiology, and urine CCCR may be unreliable. If the decision is made to observe, clinical symptoms, calcium levels, and fetal US should be monitored, with biochemistry and urine CCCR performed postpartum, once lactation is completed \u00a9 2020 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10362","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T14:14:20Z","timestamp":1585836860000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls"],"prefix":"10.1093","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8419-7987","authenticated-orcid":false,"given":"Alicia R","family":"Jones","sequence":"first","affiliation":[{"name":"Monash Centre for Health Research and Implementation Monash University  Melbourne Australia"},{"name":"Department of Endocrinology Monash Health  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew JL","family":"Hare","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Monash Health  Melbourne Australia"},{"name":"Wellbeing and Chronic Preventable Diseases Division Menzies School of Health Research  Darwin Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justin","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Monash University  Melbourne Australia"},{"name":"Department of Paediatric Endocrinology and Diabetes Monash Health  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Monash Health  Melbourne Australia"},{"name":"Hudson Institute of Medical Research, Clayton  Melbourne Australia"},{"name":"Department of Medicine Monash University  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Endocrinology St Vincent's Hospital  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances","family":"Milat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Monash Health  Melbourne Australia"},{"name":"Hudson Institute of Medical Research, Clayton  Melbourne Australia"},{"name":"Department of Medicine Monash University  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn A","family":"Allan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Monash Health  Melbourne Australia"},{"name":"Hudson Institute of Medical Research, Clayton  Melbourne Australia"},{"name":"Department of Obstetrics and 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