{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:39:48Z","timestamp":1792442388256,"version":"4.5.0"},"reference-count":100,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.<\/jats:p>","DOI":"10.1159\/000508985","type":"journal-article","created":{"date-parts":[[2020,8,5]],"date-time":"2020-08-05T17:01:32Z","timestamp":1596646892000},"page":"182-196","source":"Crossref","is-referenced-by-count":75,"title":["Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients"],"prefix":"10.1159","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9065-3886","authenticated-orcid":false,"given":"Giovanna","family":"Mantovani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Monk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"de\u00a0Sanctis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0689-5549","authenticated-orcid":false,"given":"S.\u00a0Faisal","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Bufo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timoth\u00e9e","family":"Choplin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianpaolo","family":"De\u00a0Filippo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillemette","family":"Devernois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca\u00a0M.","family":"Elli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Garcia\u00a0Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily\u00a0L.","family":"Germain-Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Groussin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neveen\u00a0A.T.","family":"Hamdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kamenick\u00fd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvire","family":"Le\u00a0Norcy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Lecumberri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0A.","family":"Levine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel\u00a0\u00c1ngel","family":"Martos-Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manasori","family":"Minagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arrate","family":"Pereda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Pignolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Rejnmark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebeca","family":"Rodado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vrinda","family":"Saraff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1628-3677","authenticated-orcid":false,"given":"Ashley\u00a0H.","family":"Shoemaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen\u00a0M.","family":"Shore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Silve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5172-5402","authenticated-orcid":false,"given":"Serap","family":"Turan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u00a0Carola","family":"Zillikens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2424-5294","authenticated-orcid":false,"given":"Guiomar","family":"Perez\u00a0de\u00a0Nanclares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2020,8,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.52"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3450"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ18-0326"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38534"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.21.8287"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199005173222002"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.101"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa011262"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1172\/JCI19159"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.003"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1012717"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-16-0107"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1048"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-015-0268-x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.004"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.32"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22265"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-4310"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-018-0042-0"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.117"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3909"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.08.050"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2326"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2785"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101937"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1159\/000348516"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0628"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.5650080111"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(80)90270-3"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0795"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1655"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.03.003"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.84342"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.genhosppsych.2015.06.008"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22696"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22222"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12948"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrs.2016.06.007"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3908"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2044.2006.04543.x"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.4103\/2230-8210.119577"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2016.02.002"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1136\/adc.40.213.565"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.00701"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjz084"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1177\/1055665618814661"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32346"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.481"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3314"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021755"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-015-0258-z"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S51064"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0000000000000045"},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030850"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1674"},{"key":"ref56","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0013"},{"key":"ref57","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1411"},{"key":"ref58","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-199405001-00019"},{"key":"ref59","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1649"},{"key":"ref60","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.16.31"},{"key":"ref61","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1497"},{"key":"ref62","doi-asserted-by":"publisher","DOI":"10.1186\/1687-9856-2014-21"},{"key":"ref63","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01067"},{"key":"ref64","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3895"},{"key":"ref65","doi-asserted-by":"publisher","DOI":"10.1038\/ijo.2012.200"},{"key":"ref66","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.11.6145"},{"key":"ref67","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-022028"},{"key":"ref68","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030028"},{"key":"ref69","doi-asserted-by":"publisher","DOI":"10.1002\/stem.1109"},{"key":"ref70","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000783"},{"key":"ref71","doi-asserted-by":"publisher","DOI":"10.1159\/000381452"},{"key":"ref72","doi-asserted-by":"publisher","DOI":"10.1159\/000486715"},{"key":"ref73","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1594"},{"key":"ref74","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13927"},{"key":"ref75","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(88)80022-6"},{"key":"ref76","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-105-2-197"},{"key":"ref77","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2009.05.004"},{"key":"ref78","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-011-1606-7"},{"key":"ref79","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/7645938"},{"key":"ref80","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.193373"},{"key":"ref81","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00833-1"},{"key":"ref82","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020183"},{"key":"ref83","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030393"},{"key":"ref84","doi-asserted-by":"publisher","DOI":"10.1159\/000362597"},{"key":"ref85","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.3.824"},{"key":"ref86","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.1.8133"},{"key":"ref87","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0869"},{"key":"ref88","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2731"},{"key":"ref89","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0498"},{"key":"ref90","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3328"},{"key":"ref91","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.0930043"},{"key":"ref92","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.7.7690"},{"key":"ref93","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(83)91008-2"},{"key":"ref94","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-3098"},{"key":"ref95","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2014.10.006"},{"key":"ref96","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10431"},{"key":"ref97","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi009"},{"key":"ref98","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2015.05.011"},{"key":"ref99","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"ref100","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2009.0092"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508985","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508985","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T11:42:23Z","timestamp":1745408543000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000508985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":100,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,9,11]]},"published-print":{"date-parts":[[2020,9,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000508985","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.12763940","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}