{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:34:14Z","timestamp":1792762454893,"version":"4.5.0"},"reference-count":120,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2016,12,1]],"date-time":"2016-12-01T00:00:00Z","timestamp":1480550400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an\n                      <jats:italic>in vivo<\/jats:italic>\n                      response to exogenous PTH and the results of an\n                      <jats:italic>in vitro<\/jats:italic>\n                      assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic\/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and\/or PTHrP cAMP-mediated pathway.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and methods<\/jats:title>\n                    <jats:p>Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH\/PTHrP signalling pathway.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results and conclusions<\/jats:title>\n                    <jats:p>After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term \u2018inactivating PTH\/PTHrP signalling disorder\u2019 (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like \u2018pseudo\u2019 and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/eje-16-0107","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T06:03:05Z","timestamp":1468303385000},"page":"P1-P17","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":154,"title":["From pseudohypoparathyroidism to inactivating PTH\/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network"],"prefix":"10.1093","volume":"175","author":[{"given":"Susanne","family":"Thiele","sequence":"first","affiliation":[{"name":"1Division of Experimental Pediatric Endocrinology and DiabetesDepartment of Pediatrics, University of L\u00fcbeck, L\u00fcbeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Mantovani","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore PoliclinicoEndocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"3APHMH\u00f4pital la Conception, Laboratory of Molecular Biology, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Boldrin","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore PoliclinicoEndocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Bordogna","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore PoliclinicoEndocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"4Department of Public Health and Pediatric SciencesUniversity of Torino, Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca M","family":"Elli","sequence":"additional","affiliation":[{"name":"2Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore PoliclinicoEndocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Freson","sequence":"additional","affiliation":[{"name":"5Department of Cardiovascular SciencesCenter for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intza","family":"Garin","sequence":"additional","affiliation":[{"name":"6Molecular (Epi)Genetics LaboratoryBioAraba National Health Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Grybek","sequence":"additional","affiliation":[{"name":"7APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, fili\u00e8re OSCAR and Plateforme d\u2019Expertise Maladies Rares Paris-Sud, H\u00f4pital Bic\u00eatre Paris Sud, Le Kremlin Bic\u00eatre, France"},{"name":"8INSERM U1169H\u00f4pital Bic\u00eatre, Le Kremlin Bic\u00eatre, et Universit\u00e9 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