{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:25:01Z","timestamp":1790713501130,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,19]],"date-time":"2015-10-19T00:00:00Z","timestamp":1445212800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Pseudohypoparathyroidism (<jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content>) is caused by a mutation within the <jats:italic><jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content><\/jats:italic> gene or upstream of the <jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content> complex locus. It is characterized by target organ resistance to <jats:styled-content style=\"fixed-case\">PTH<\/jats:styled-content>, resulting in hypocalcaemia and hyperphosphataemia. Studies in patients with <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content> are limited. We sought to identify all patients in Denmark with <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content> and access their mortality data and risk of complications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Patients were identified through the Danish National Patient Registry and a prescription database, with subsequent validation by investigation of patient charts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>For each case, three age\u2010 (\u00b12 years) and gender\u2010matched controls were randomly selected from the general background population. We identified a total of 60 cases, equal to a prevalence of 1\u00b71\/100 000 inhabitants. The average age at diagnosis was 13 years (range 1\u201362 years), and 42 were women. Only 14 patients had an identified mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">GNAS<\/jats:styled-content>1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compared with controls, patients with <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content> had an increased risk of neuropsychiatric disorders (<jats:italic>P<\/jats:italic> &lt; 0\u00b701), infections (<jats:italic>P<\/jats:italic> &lt; 0\u00b701), seizures (<jats:italic>P<\/jats:italic> &lt; 0\u00b701) and cataract (<jats:italic>P<\/jats:italic> &lt; 0\u00b701), whereas their risk of renal, cardiovascular, malignant disorders and fractures was compatible with the general background population. The same tendencies were found in a subgroup analysis in cases with genetically verified <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Patients with <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content> have an increased risk of neuropsychiatric disorders, infections, cataract and seizures, whereas mortality among <jats:styled-content style=\"fixed-case\">PHP<\/jats:styled-content> patients is compatible with that in the background population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12948","type":"journal-article","created":{"date-parts":[[2015,9,21]],"date-time":"2015-09-21T11:17:15Z","timestamp":1442834235000},"page":"904-911","source":"Crossref","is-referenced-by-count":79,"title":["Pseudohypoparathyroidism \u2013 epidemiology, mortality and risk of complications"],"prefix":"10.1111","volume":"84","author":[{"given":"Line","family":"Underbjerg","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Internal Medicine THG Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Sikjaer","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine THG Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leif","family":"Mosekilde","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine THG Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Rejnmark","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine THG Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,19]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"618","article-title":"Pseudo\u2010pseudohypoparathyroidism and hypothyroidism in a 3\u2010year\u2010old child","volume":"147","author":"Storm K.","year":"1985","journal-title":"Ugeskrift for Laeger"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2006.19.S2.627"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199904013401306"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026510200264"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.8.1255"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.2188\/jea.10.29"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1979"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2273"},{"key":"e_1_2_8_10_1","first-page":"263","article-title":"The Danish National Hospital Register. 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