{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:10:15Z","timestamp":1793319015774,"version":"4.5.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T00:00:00Z","timestamp":1689206400000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Reference networks Endo-ERN","award":["DSA 20200518 iPPSD"],"award-info":[{"award-number":["DSA 20200518 iPPSD"]}]},{"name":"European Reference networks Endo-ERN","award":["777215"],"award-info":[{"award-number":["777215"]}]},{"name":"European Reference networks Endo-ERN","award":["PRIN 2017HBHA98"],"award-info":[{"award-number":["PRIN 2017HBHA98"]}]},{"DOI":"10.13039\/501100003329","name":"Ministry of Economy and Competitiveness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI20\/00950"],"award-info":[{"award-number":["PI20\/00950"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["GV2021\/111056"],"award-info":[{"award-number":["GV2021\/111056"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","award":["IO-COHO-03"],"award-info":[{"award-number":["IO-COHO-03"]}],"id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as inactivating parathyroid hormone (PTH)\/PTHrP-signaling disorder type 2 of maternal inheritance (iPPSD2). Patients present with resistance to PTH and other hormones, subcutaneous ossifications, brachydactyly, short stature, and early-onset obesity. They can be born small for gestational age (SGA) and may present with growth hormone (GH) deficiency. The use of recombinant human GH (rhGH) therapy has been sporadically reported, yet we lack data on the long-term efficacy and safety of rhGH, as well as on adult height.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Our multicenter, retrospective, observational study describes growth in patients treated with rhGH in comparison with untreated iPPSD2\/PHP1A controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We included 190 patients, of whom 26 received rhGH. Height, weight, body mass index at various time points, and adult height were documented. We analyzed the effect of rhGH on adult height by using linear mixed models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Adult height was available for 11\/26 rhGH-treated individuals and for 69\/164 controls. Patients treated with rhGH showed a gain in height of 0.7 standard deviation scores (SDS) after 1 year (CI +0.5 to +0.8, P &amp;lt; .001) and of 1.5 SDS after 3 years (CI +1.0 to +2.0, P &amp;lt; .001). Additionally, there was a clear beneficial impact of rhGH on adult height when compared with untreated controls, with a difference of 1.9 SDS (CI +1.1 to +2.7, P &amp;lt; .001). Body mass index SDS did not vary significantly upon rhGH therapy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Recombinant human growth hormone treatment of iPPSD2\/PHP1A patients with short stature improves growth and adult height. More studies are needed to confirm long-term efficacy and safety.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad085","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T16:26:31Z","timestamp":1689179191000},"page":"123-131","source":"Crossref","is-referenced-by-count":9,"title":["Recombinant growth hormone improves growth and adult height in patients with maternal inactivating\n                    <i>GNAS<\/i>\n                    mutations"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-0975","authenticated-orcid":false,"given":"Diana-Alexandra","family":"Ertl","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bic\u00eatre Paris-Saclay University Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Department of Paediatrics and Adolescent Medicine, Medical University of Vienna , 1090 Vienna , Austria"},{"name":"Reference Center for Rare Bone and Growth Disorders, Vienna Bone and Growth Center (ERN-BOND) , 1090 Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiomar Perez","family":"de Nanclares","sequence":"additional","affiliation":[{"name":"Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital , 01009 Vitoria-Gasteiz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[{"name":"Department of Medicine, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School , Boston, MA 02114 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4998-2901","authenticated-orcid":false,"given":"Patrick","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bic\u00eatre Paris-Saclay University Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Department of Medicine, Endocrine Unit, Massachusetts General Hospital and Harvard Medical School , Boston, MA 02114 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Pagnano","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , 20122 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5442-7873","authenticated-orcid":false,"given":"Arrate","family":"Pereda","sequence":"additional","affiliation":[{"name":"Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital , 01009 Vitoria-Gasteiz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bic\u00eatre Paris-Saclay University Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Del Sindaco","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , 20122 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Ruiz-Cuevas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Josep Trueta University Hospital , 17007 Girona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Audrain","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arancha","family":"Escribano","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, University Hospital Virgen de la Arrixaca , 30120 El Palmar, Murcia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jugurtha","family":"Berkenou","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Gleiss","sequence":"additional","affiliation":[{"name":"Center for Medical Data Science, Medical University of Vienna , 1090 Vienna , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9065-3886","authenticated-orcid":false,"given":"Giovanna","family":"Mantovani","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico , 20122 Milan , Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan , 20122 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3455-002X","authenticated-orcid":false,"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetology for Children and Department of Adolescent Medicine, AP-HP, Bic\u00eatre Paris-Saclay University Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, AP-HP, Fili\u00e8re OSCAR and Platform of expertise for rare diseases Paris-Saclay, Bic\u00eatre Paris-Saclay Hospital , 94270 Le Kremlin-Bic\u00eatre , France"},{"name":"INSERM, Physiologie et physiopathologie endocrinienne, Universit\u00e9 Paris Saclay , 94276 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,7,13]]},"reference":[{"key":"2023072605380197400_lvad085-B1","first-page":"922","article-title":"Pseudohypoparathyroidism\u2014an example of \u201cSeabright-Bantam syndrome\u201d","volume":"30","author":"Albright","year":"1942","journal-title":"Endocrinology"},{"issue":"4","key":"2023072605380197400_lvad085-B2","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.ecl.2018.07.011","article-title":"Pseudohypoparathyroidism","volume":"47","author":"Linglart","year":"2018","journal-title":"Endocrinol Metab Clin North 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