{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:13:31Z","timestamp":1787022811429,"version":"build-2736575974"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,2]]},"abstract":"\n Objective<\/jats:title>\n Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gs\u03b1-protein-coupled receptors. Affected patients may present with various combination of symptoms including resistance to PTH and\/or to other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature and cognitive difficulties. Several years ago we proposed a novel nomenclature under the term of inactivating PTH\/PTHrP signaling disorders (iPPSD). It is now of utmost importance to validate these criteria and\/or improve the basis of this new classification.<\/jats:p>\n <\/jats:sec>\n \n Design<\/jats:title>\n Retrospective study of a large international series of 459 probands and 85 relatives molecularly characterized.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Information on major and minor criteria associated with iPPSD and genetic results were retrieved from patient files. We compared the presence of each criteria according to the iPPSD subtype, age and gender of the patients.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n More than 98% of the probands met the proposed criteria for iPPSD classification. Noteworthy, most patients (85%) presented a combination of symptoms rather than a single sign suggestive of iPPSD and the overlap among the different genetic forms of iPPSD was confirmed. The clinical and molecular characterization of relatives identified familial history as an additional important criterion predictive of the disease.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n The phenotypic analysis of this large cohort confirmed the utility of the major and minor criteria and their combination to diagnose iPPSD. This report shows the importance of having simple and easily recognizable signs to diagnose with confidence these rare disorders and supports a better management of patients.<\/jats:p>\n <\/jats:sec>","DOI":"10.1530\/eje-20-0625","type":"journal-article","created":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T10:19:25Z","timestamp":1606990765000},"page":"311-320","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":22,"title":["Inactivating PTH\/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients"],"prefix":"10.1093","volume":"184","author":[{"given":"Arrate","family":"Pereda","sequence":"first","affiliation":[{"name":"1Molecular (Epi)Genetics Laboratory, BioAraba Research Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca M","family":"Elli","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy"},{"name":"3Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Thiele","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics, University of L\u00fcbeck, L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"de Sanctis","sequence":"additional","affiliation":[{"name":"5Department of Public Health and Pediatric Sciences, University of Torino, Regina Margherita Children\u2019s Hospital-AOU Citt\u00e0 della Salute e della Scienza, Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"6AP-HP, Service d\u2019endocrinologie et diab\u00e8te de l\u2019enfant et Centre de r\u00e9f\u00e9rence des maladies rares du m\u00e9tabolisme du calcium et du phosphate, fili\u00e8re OSCAR, EndoRare and BOND ERN, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Hanna","sequence":"additional","affiliation":[{"name":"7Universit\u00e9 Paris-Saclay, H\u00f4pital de Bic\u00eatre, INSERM U1185, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3903-2320","authenticated-orcid":true,"given":"Bruno","family":"Francou","sequence":"additional","affiliation":[{"name":"7Universit\u00e9 Paris-Saclay, H\u00f4pital de Bic\u00eatre, INSERM U1185, Le Kremlin-Bic\u00eatre, France"},{"name":"8AP-HP, Service de g\u00e9n\u00e9tique mol\u00e9culaire, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana Alexandra","family":"Ertl","sequence":"additional","affiliation":[{"name":"9University Clinic of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2424-5294","authenticated-orcid":true,"given":"Guiomar","family":"Perez de Nanclares","sequence":"additional","affiliation":[{"name":"1Molecular (Epi)Genetics Laboratory, BioAraba Research Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"6AP-HP, Service d\u2019endocrinologie et diab\u00e8te de l\u2019enfant et Centre de r\u00e9f\u00e9rence des maladies rares du m\u00e9tabolisme du calcium et du phosphate, fili\u00e8re OSCAR, EndoRare and BOND ERN, H\u00f4pital de Bic\u00eatre, Le Kremlin-Bic\u00eatre, France"},{"name":"7Universit\u00e9 Paris-Saclay, H\u00f4pital de Bic\u00eatre, INSERM U1185, Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Mantovani","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy"},{"name":"3Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/184\/2\/EJE-20-0625.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/184\/2\/EJE-20-0625.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T11:15:17Z","timestamp":1676373317000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/184\/2\/311\/6653833"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-0625","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}