{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:10:10Z","timestamp":1762866610916,"version":"3.40.4"},"reference-count":28,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> The insulin-like growth factor 1 receptor <i>(IGF<\/i><i> IR)<\/i> gene is located on chromosome 15q26.3. Heterozygous 15q26 deletions involving the <i>IGFIR<\/i> gene are rare, resulting in intrauterine and postnatal growth retardation, developmental delay and microcephaly. Limited evidence exists on the effect of growth hormone (GH) therapy in these cases. <b><i>Methods:<\/i><\/b> We report a series of cases with 15q26 deletions, including response to GH treatment. <b><i>Results:<\/i><\/b> Seven children (2 males) presented with short stature [median height standard deviation score (SDS) of -4.8 (range -3.0 to -5.6)]. GH was started at a median age of 5 years (range 1.8 to 12.4) for a median duration of 5.8 years (range 1.0 to 12.4). Median height SDS increased by +0.6 (range 0.1 to 1.0), +1.3 (range 0.1 to 2.4) and +1.4 (range 0.8 to 3.3) after 1 (n = 7), 5 (n = 4) and 10 years (n = 3) of GH treatment, respectively. Four patients reached final height after 5.8 to 12.4 years of GH with a median change in height SDS of +1.1 (range 0 to 3.3). <b><i>Conclusion:<\/i><\/b> This study demonstrates a moderate, though variable, response to GH therapy, suggesting that GH resistance caused by heterozygous <i>IGFIR<\/i> deletions can be partially overcome by GH therapy. The first-year response was moderate, and whilst long-term treatment improved height SDS, the final adult height remained reduced. Therefore, an individual trial of GH therapy may be appropriate in these patients.<\/jats:p>","DOI":"10.1159\/000380949","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T21:03:14Z","timestamp":1429736594000},"page":"424-430","source":"Crossref","is-referenced-by-count":8,"title":["Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion"],"prefix":"10.1159","volume":"83","author":[{"given":"Sheau Chui","family":"Ho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep","family":"Vasudevan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Greening","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Wardhaugh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nick","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Kelnar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,4,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2008.02.001"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-2"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.486"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021080"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1789"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1502"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1994.tb13303.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199610313351805"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.3.233"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380117"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.80.12.8530582"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.617"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20464"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211301"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30939"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31581"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.08.003"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34310"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.K10E-251"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.12.004"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.04.001"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.2.3750"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1581"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1471"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.156.3.230"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1159\/000322878"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1210\/er.2002-0033"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1999.00799.x"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/380949","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/380949","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:48:36Z","timestamp":1745430516000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000380949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":28,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2015,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000380949","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2015]]}}}