{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:54Z","timestamp":1789447434996,"version":"build-2803163510"},"reference-count":14,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>We present a 46-year-old Caucasian lady with symptomatic hypocalcaemia. Investigations revealed markedly raised parathyroid hormone (PTH) levels with vitamin D deficiency. A number of conditions causing secondary hyperparathyroidism were ruled out from her medical history and initial investigations. The main differential diagnoses were vitamin D deficiency and PTH resistance (pseudohypoparathyroidism, PHP). With high-normal serum phosphate and normal alkaline phosphatase, and a lack of symptoms associated with osteomalacia, vitamin D deficiency alone was unlikely to be the cause of hypocalcaemia. Given a normal physical appearance, genetic testing was arranged and confirmed the diagnosis of PHP type Ib. She is currently taking activated vitamin D to maintain calcium homeostasis. PTH resistance is the hallmark of PHP, a rare complex genetic disorder, which can be easily missed resulting in potentially serious consequences.<\/jats:p>","DOI":"10.1136\/bcr-2012-008040","type":"journal-article","created":{"date-parts":[[2013,1,23]],"date-time":"2013-01-23T10:49:43Z","timestamp":1358938183000},"page":"bcr2012008040","source":"Crossref","is-referenced-by-count":6,"title":["Pseudohypoparathyroidism: a rare but important cause of hypocalcaemia"],"prefix":"10.1136","volume":"2013","author":[{"given":"Pui Lin","family":"Chong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl R","family":"Meeking","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,1,22]]},"reference":[{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.K10E-097"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.2","unstructured":"Thakker R . Hypocalcaemic disorders, hypoparathyroidism, and pseudohypoparathyroidism. In: Wass JAN Shalet SM . Oxford textbook of endocrinology and diabetes. Oxford University Press, Oxford: 2002:645\u201354."},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.3","doi-asserted-by":"crossref","first-page":"29","DOI":"10.2188\/jea.10.29","article-title":"Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan","volume":"10","author":"Nakamura","year":"2000","journal-title":"J Epidemiol"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1048"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.5","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.7.1412"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030393"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.3.824"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-022028"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0869"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.101"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020183"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.20.11798"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.13","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10431"},{"key":"2025042701405048000_2013.jan22_1.bcr2012008040.14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi009"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-008040","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T08:40:59Z","timestamp":1745743259000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-008040"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,22]]},"references-count":14,"alternative-id":["10.1136\/bcr-2012-008040"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-008040","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,22]]}}}