{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:33:47Z","timestamp":1790822027318,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","award":["Research for patient benefit grant PB\u2010PG\u20101111\u2010"],"award-info":[{"award-number":["Research for patient benefit grant PB\u2010PG\u20101111\u2010"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Silver\u2013Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long\u2010term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI)\u00a0and GH treatment in molecularly confirmed SRS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>An observational study with retrospective data collection.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Individuals with molecularly confirmed SRS aged \u226513 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Measurements<\/jats:title><jats:p>Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near\u2010final height), BMI and gain in BMI (from childhood to adulthood)\u00a0and previous GH treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventy\u2010one individuals (40 female) were included. The median age was 22.0 years (range 13.2\u201369.7). The molecular diagnoses: H19\/IGF2:IG\u2010DMR LOM in 80.3% (57\/71); upd(7)mat in 16.9% (12\/71) and IGF2 mutation in 2.8% (2\/71). GH treatment occurred in 77.5% (55\/71).<\/jats:p><jats:p>Total height gain was greater in GH\u2010treated individuals (median 1.53 SDS vs. 0.53 SDS, <jats:italic>p<\/jats:italic>\u2009=\u2009.007), who were shorter at treatment initiation (\u22123.46 SDS vs. \u22122.91 SDS, <jats:italic>p<\/jats:italic>\u2009=\u2009.04) but reached comparable heights to GH\u2010untreated individuals (\u22122.22 SDS vs. \u22122.74 SDS, <jats:italic>p<\/jats:italic>\u2009=\u2009.7). In GH\u2010treated individuals, BMI SDS was lower at the most recent assessment (median \u22121.10 vs. 1.66, <jats:italic>p<\/jats:italic>\u2009=\u2009.002) with lower BMI gain (2.01 vs. 3.58, <jats:italic>p<\/jats:italic>\u2009=\u2009.006) despite similar early BMI SDS to GH\u2010untreated individuals (median \u22122.65 vs. \u22122.78, <jats:italic>p<\/jats:italic>\u2009=\u2009.3).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14715","type":"journal-article","created":{"date-parts":[[2022,3,9]],"date-time":"2022-03-09T08:58:37Z","timestamp":1646816317000},"page":"284-292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Height and body mass index in molecularly confirmed Silver\u2013Russell syndrome and the long\u2010term effects of growth hormone treatment"],"prefix":"10.1111","volume":"97","author":[{"given":"Oluwakemi","family":"Lokulo\u2010Sodipe","sequence":"first","affiliation":[{"name":"Human Development and Health Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Department of Paediatric Endocrinology University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elo\u00efse","family":"Giabicani","sequence":"additional","affiliation":[{"name":"INSERM,\u00a0UMR_S 938\u2014Centre de Recherche Saint Antoine, \u00a0APHP, H\u00f4pital Armand Trousseau, Explorations Fonctionnelles Endocriniennes Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00a0P. M.","family":"Canton","sequence":"additional","affiliation":[{"name":"INSERM,\u00a0UMR_S 938\u2014Centre de Recherche Saint Antoine, \u00a0APHP, H\u00f4pital Armand Trousseau, Explorations Fonctionnelles Endocriniennes Sorbonne Universit\u00e9  Paris France"},{"name":"Division of Endocrinology &amp; Metabolism, Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics\/LIM42, Clinical Hospital, Sao Paulo Medical School University of Sao Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawfel","family":"Ferrand","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology University Children's Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Child","sequence":"additional","affiliation":[{"name":"Child Growth Foundation  Sutton Coldfield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Wakeling","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Binder","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology University Children's Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ir\u00e8ne","family":"Netchine","sequence":"additional","affiliation":[{"name":"INSERM,\u00a0UMR_S 938\u2014Centre de Recherche Saint Antoine, \u00a0APHP, H\u00f4pital Armand Trousseau, Explorations Fonctionnelles Endocriniennes Sorbonne Universit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J. G.","family":"Mackay","sequence":"additional","affiliation":[{"name":"Human Development and Health Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Wessex Regional Genetics Laboratory Salisbury Hospital NHS Foundation Trust Salisbury UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazel M.","family":"Inskip","sequence":"additional","affiliation":[{"name":"MRC Epidemiology Unit Faculty of Medicine University of Southampton  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher\u00a0D.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Cancer Sciences Faculty of Medicine University of Southampton  Southampton UK"},{"name":"NIHR Southampton Biomedical Research Centre University Hospital Southampton NHS Foundation Trust Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. Karen","family":"Temple","sequence":"additional","affiliation":[{"name":"Human Development and Health Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Wessex Clinical Genetics Service University Hospital Southampton NHS Foundation Trust Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin H.","family":"Davies","sequence":"additional","affiliation":[{"name":"Human Development and Health Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Department of Paediatric Endocrinology University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102979"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.138"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1629"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0354"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.583"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02282833"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000185509"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000295924"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-4273"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354658"},{"issue":"4","key":"e_1_2_8_12_1","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1159\/000289570","article-title":"Height at start, first\u2010year 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\u2010Russell syndrome treated with growth hormone: analysis of data from KIGS","volume":"74","author":"Ranke MB","year":"2010","journal-title":"Horm Res Paediatr"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1805"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-305864"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001708"},{"issue":"6","key":"e_1_2_8_16_1","first-page":"2225","article-title":"Clinical manifestations and metabolic outcomes of seven adults with Silver\u2010Russell syndrome","volume":"103","author":"Patti G","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"e_1_2_8_17_1","first-page":"983","article-title":"Metabolic Health and long\u2010term safety of growth hormone treatment in Silver\u2010Russell syndrome","volume":"102","author":"Smeets CC","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2018-314952"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106561"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-00874"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.244.755"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.73.1.17"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80224-6"},{"key":"e_1_2_8_24_1","volume-title":"Auxologie, m\u00e9thode et s\u00e9quences","author":"Semp\u00e9","year":"1979"},{"issue":"1","key":"e_1_2_8_25_1","first-page":"13","article-title":"Body Mass Index variations: centiles from birth to 87 years","volume":"45","author":"Rolland\u2010Cachera MF","year":"1991","journal-title":"Eur J Clin Nutr"},{"key":"e_1_2_8_26_1","first-page":"1","article-title":"Physical growth of Swiss children from birth to 20 years of age. 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