{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:30:28Z","timestamp":1790400628911,"version":"4.1.0"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0587_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Silver\u2013Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS\u00a0cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0587_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine\u2013Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0587_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In Group 1, 75.8\u202f% had hypomethylation in the ICR1 region, 13.7\u202f% had maternal uniparental disomy 7, 6.8\u202f% had an IGF-2 mutation, and 3\u202f% had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and\u00a0neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was\u00a0\u22122.32\u00a0\u00b1\u00a01.57 (n=5) in Group 1 and\u00a0\u22122.41\u00a0\u00b1\u00a00.86 (n=5) in Group\u00a02.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0587_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0587","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T04:20:04Z","timestamp":1748319604000},"page":"830-837","source":"Crossref","is-referenced-by-count":1,"title":["Comparison of the clinical characteristics of children with Silver\u2013Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6592-9652","authenticated-orcid":false,"given":"\u0130lker Tolga","family":"\u00d6zgen","sequence":"first","affiliation":[{"name":"472600 Biruni University Faculty of Medicine Division of Pediatric Endocrinology , Istanbul , 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O\u2019Connell, SM, Salem, J, Bliek, J, et al.. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13:105\u201324. https:\/\/doi.org\/10.1038\/nrendo.2016.138.","DOI":"10.1038\/nrendo.2016.138"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_002","doi-asserted-by":"crossref","unstructured":"Netchine, I, Rossignol, S, Dufourg, MN, Azzi, S, Rousseau, A, Perin, L, et al.. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J\u00a0Clin Endocrinol Metab 2007;92:3148\u201354. https:\/\/doi.org\/10.1210\/jc.2007-0354.","DOI":"10.1210\/jc.2007-0354"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_003","doi-asserted-by":"crossref","unstructured":"Wakeling, EL. Silver\u2013Russell syndrome. Arch Dis Child 2011;96:1156\u201361. https:\/\/doi.org\/10.1136\/adc.2010.190165.","DOI":"10.1136\/adc.2010.190165"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_004","doi-asserted-by":"crossref","unstructured":"Spiteri, BS, Stafrace, Y, Calleja-Agius, J. Silver\u2013Russell syndrome: a review. Neonatal Netw 2017;36:206\u201312. https:\/\/doi.org\/10.1891\/0730-0832.36.4.206.","DOI":"10.1891\/0730-0832.36.4.206"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_005","doi-asserted-by":"crossref","unstructured":"Fuke, T, Nakamura, A, Inoue, T, Kawashima, S, Hara, KI, Matsubara, K, et al.. Role of imprinting disorders in short children born SGA and Silver\u2013Russell syndrome spectrum. J\u00a0Clin Endocrinol Metab 2021;106:802\u201313. https:\/\/doi.org\/10.1210\/clinem\/dgaa856.","DOI":"10.1210\/clinem\/dgaa856"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_006","doi-asserted-by":"crossref","unstructured":"Wollmann, HA, Kirchner, T, Enders, H, Preece, MA, Ranke, MB. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995;154:958\u201368. https:\/\/doi.org\/10.1007\/bf01958638.","DOI":"10.1007\/BF01958638"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_007","doi-asserted-by":"crossref","unstructured":"Binder, G, Liebl, M, Woelfle, J, Eggermann, T, Blumenstock, G, Schweizer, R. Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. Horm Res Paediatr 2013;80:193\u2013200. https:\/\/doi.org\/10.1159\/000354658.","DOI":"10.1159\/000354658"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_008","doi-asserted-by":"crossref","unstructured":"Chou, JH, Roumiantsev, S, Singh, R. PediTools electronic growth chart calculators: applications in clinical care, research, and quality improvement. J\u00a0Med Internet Res 2020;22:e16204. https:\/\/doi.org\/10.2196\/16204.","DOI":"10.2196\/16204"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_009","doi-asserted-by":"crossref","unstructured":"Azzi, S, Salem, J, Thibaud, N, Chantot-Bastaraud, S, Lieber, E, Netchine, I, et al.. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver\u2013Russell syndrome. J\u00a0Med Genet 2015;52:446\u201353. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102979.","DOI":"10.1136\/jmedgenet-2014-102979"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_010","doi-asserted-by":"crossref","unstructured":"Demir, K, Konak\u00e7\u0131, E, \u00d6zkaya, G, Kasap Demir, B, \u00d6zen, S, Ayd\u0131n, M, et al.. New features for child metrics: further growth references and blood pressure calculations. J\u00a0Clin Res Pediatr Endocrinol. 2020;12:125\u20139. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2019.2019.0127.","DOI":"10.4274\/jcrpe.galenos.2019.2019.0127"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_011","doi-asserted-by":"crossref","unstructured":"Berbero\u011flu, M. Precocious puberty and normal variant puberty: definition, etiology, diagnosis and current management. J\u00a0Clin Res Pediatr Endocrinol 2009;1:164\u201374. https:\/\/doi.org\/10.4274\/jcrpe.v1i4.3.","DOI":"10.4274\/jcrpe.v1i4.3"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_012","doi-asserted-by":"crossref","unstructured":"Marsaud, C, Rossignol, S, Tounian, P, Netchine, I, Dubern, B. Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome. Arch Dis Child 2015;100:353\u20138. https:\/\/doi.org\/10.1136\/archdischild-2013-305864.","DOI":"10.1136\/archdischild-2013-305864"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_013","doi-asserted-by":"crossref","unstructured":"Ribeiro, EHP, Haduo, MDH, Ribeiro, CDC, Lam\u00f4nica, DAC. Silver-Russell syndrome: clinical, neurodevelopmental and communication characteristics: clinical case studies. Coda 2021;34:e20200273. https:\/\/doi.org\/10.1590\/2317-1782\/20212020273.","DOI":"10.1590\/2317-1782\/20212020273"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_014","doi-asserted-by":"crossref","unstructured":"Burgevin, M, Lacroix, A, Bourdet, K, Coutant, R, Donadille, B, Faivre, L, et al.. Quality of life and mental health of adolescents and adults with Silver-Russell syndrome. Eur J Med Genet 2022;65:104482. https:\/\/doi.org\/10.1016\/j.ejmg.2022.104482.","DOI":"10.1016\/j.ejmg.2022.104482"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_015","doi-asserted-by":"crossref","unstructured":"Patti, G, Malerba, F, Calevo, MG, Schiavone, M, Scaglione, M, Casalini, E, et al.. Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. Front Endocrinol 2022;13:975511. https:\/\/doi.org\/10.3389\/fendo.2022.975511. Erratum in: Front Endocrinol (Lausanne).","DOI":"10.3389\/fendo.2022.975511"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_016","doi-asserted-by":"crossref","unstructured":"Binder, G, Schweizer, R, Blumenstock, G, Ferrand, N. Adrenarche in Silver-Russell syndrome: timing and consequences. J\u00a0Clin Endocrinol Metab 2017;102:4100\u20138. https:\/\/doi.org\/10.1210\/jc.2017-00874.","DOI":"10.1210\/jc.2017-00874"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_017","doi-asserted-by":"crossref","unstructured":"Smeets, CC, Zandwijken, GR, Renes, JS, Hokken-Koelega, AC. Long-Term results of GH treatment in Silver-Russell syndrome (SRS): do they benefit the same as non-SRS short-SGA? J\u00a0Clin Endocrinol Metab 2016;101:2105\u201312. https:\/\/doi.org\/10.1210\/jc.2015-4273.","DOI":"10.1210\/jc.2015-4273"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_018","doi-asserted-by":"crossref","unstructured":"Rakover, Y, Dietsch, S, Ambler, GR, Chock, C, Thomsett, M, Cowell, CT. Growth hormone therapy in Silver Russell syndrome: 5\u00a0years experience of the Australian and New\u00a0Zealand Growth database (OZGROW). Eur J Pediatr 1996;155:851\u20137, https:\/\/doi.org\/10.1007\/bf02282833.","DOI":"10.1007\/BF02282833"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_019","doi-asserted-by":"crossref","unstructured":"Toumba, M, Albanese, A, Azcona, C, Stanhope, R. Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome. Horm Res Paediatr 2010;74:212\u20137. https:\/\/doi.org\/10.1159\/000295924.","DOI":"10.1159\/000295924"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_020","doi-asserted-by":"crossref","unstructured":"Giacomozzi, C. Genetic screening for growth hormone therapy in children small for gestational age: so much to consider, still much to discover. Front Endocrinol 2021;12:671361. https:\/\/doi.org\/10.3389\/fendo.2021.671361.","DOI":"10.3389\/fendo.2021.671361"},{"key":"2025080412565943718_j_jpem-2024-0587_ref_021","doi-asserted-by":"crossref","unstructured":"Ranke, MB, Lindberg, A, Kigs, IB. Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. Horm Res Paediatr 2010;74:259\u201366. https:\/\/doi.org\/10.1159\/000289570.","DOI":"10.1159\/000289570"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0587\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0587\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T12:57:14Z","timestamp":1754312234000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2024-0587\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,28]]},"references-count":21,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8,5]]},"published-print":{"date-parts":[[2025,8,26]]}},"alternative-id":["10.1515\/jpem-2024-0587"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0587","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,28]]}}}