{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:44:30Z","timestamp":1774611870384,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,10,23]]},"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:p>A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low urinary calcium, which was believed to be secondary to vitamin D deficiency. A diagnosis of primary hyperparathyroidism was made. The patient underwent a four-gland parathyroid exploration surgery in which three of his parathyroid glands were removed. The pathology was consistent with benign parathyroid tissue. Post surgery, the patient had persistently elevated calcium levels. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcaemia, respectively. Genetic analysis of familial hypocalciuric hypercalcaemia (FHH) showed a p.arg15cys mutation in the <jats:italic>AP2S1<\/jats:italic> gene, confirming the diagnosis of FHH type 3.<\/jats:p>","DOI":"10.1136\/bcr-2020-236631","type":"journal-article","created":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T16:35:39Z","timestamp":1604939739000},"page":"e236631","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Familial hypocalciuric hypercalcaemia type 3: <i>AP2S1<\/i> missense mutation"],"prefix":"10.1136","volume":"13","author":[{"given":"Sarah","family":"Kerut","sequence":"first","affiliation":[{"name":"Internal Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karthik Reddy","family":"Kovvuru","sequence":"additional","affiliation":[{"name":"Mississippi Center for Clincal and Translational Center, University of Mississippi Medical Center, Jackson, Mississippi, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Licy","family":"Yanes-Cardozo","sequence":"additional","affiliation":[{"name":"Mississippi Center for Clincal and Translational Center, University of Mississippi Medical Center, Jackson, Mississippi, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vishnu Vardhan","family":"Garla","sequence":"additional","affiliation":[{"name":"Mississippi Center for Clincal and Translational Center, University of Mississippi Medical Center, Jackson, Mississippi, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,11,9]]},"reference":[{"key":"2025082702003688000_13.11.e236631.1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.beem.2018.05.004","article-title":"Familial hypocalciuric hypercalcemia and related disorders","volume":"32","author":"Lee","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"2025082702003688000_13.11.e236631.2","first-page":"E16","article-title":"Primary hyperparathyroidism: Labs to order, tx to consider","volume":"67","author":"Sanapureddy","year":"2018","journal-title":"J Fam Pract"},{"key":"2025082702003688000_13.11.e236631.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000486060","article-title":"Physiology of the Calcium-Parathyroid Hormone-Vitamin D axis","volume":"50","author":"Goltzman","year":"2018","journal-title":"Front Horm Res"},{"key":"2025082702003688000_13.11.e236631.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80232-4"},{"key":"2025082702003688000_13.11.e236631.5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3442"},{"key":"2025082702003688000_13.11.e236631.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2492"},{"key":"2025082702003688000_13.11.e236631.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1300253"},{"key":"2025082702003688000_13.11.e236631.8","doi-asserted-by":"publisher","DOI":"10.1007\/s002230001201"},{"key":"2025082702003688000_13.11.e236631.9","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-92-3-351"},{"key":"2025082702003688000_13.11.e236631.10","doi-asserted-by":"publisher","DOI":"10.1530\/JME-16-0124"},{"key":"2025082702003688000_13.11.e236631.11","doi-asserted-by":"crossref","DOI":"10.7326\/0003-4819-102-4-511","article-title":"Familial benign hypercalcemia (hypocalciuric hypercalcemia). 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