{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T11:43:58Z","timestamp":1793187838591,"version":"4.5.0"},"reference-count":23,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"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":[[2017]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. <b><i>Methods:<\/i><\/b> In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 \u00b1 2.1 years) were treated with recombinant human GH (rhGH) for 1 year. Calculations for height, height velocity, BMI, sitting height, and subischial leg length were made. Bone age, insulin-like growth factor (IGF-I), and IGF binding protein 3 (IGFBP-3) were also measured. <b><i>Results:<\/i><\/b> This study showed an increase in height standard deviation score (SDS) for the whole group from \u20132.40 to \u20131.69 (<i>p<\/i> &#x3c; 0.05) after 1 year of rhGH treatment. The change in height SDS within 1 year was &#x3e;0.7 SDS for 10 subjects and &#x3e;0.5 SDS for 3 subjects. The mean IGF-I SDS at the start of the study was \u20130.70 (\u00b11.07), which increased after 12 months to 1.41 (\u00b10.91) (<i>p<\/i> &#x3c; 0.05). KS children who received rhGH at a younger age displayed significantly greater increases in height than those who started when they were older. The same was true for both gene mutation <i>KMT2D<\/i> versus <i>KDM6A<\/i> and for GH deficiency versus non-GH deficiency KS children (<i>p<\/i> &#x3c; 0.05). Throughout the course of rhGH treatment, the subjects\u2019 body proportions remained normal. <b><i>Conclusions:<\/i><\/b> All participants experienced catch-up growth during the year of rhGH treatment, but without an influence on body proportions.<\/jats:p>","DOI":"10.1159\/000479368","type":"journal-article","created":{"date-parts":[[2017,8,9]],"date-time":"2017-08-09T21:01:21Z","timestamp":1502312481000},"page":"258-264","source":"Crossref","is-referenced-by-count":24,"title":["Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results"],"prefix":"10.1159","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2805-0985","authenticated-orcid":false,"given":"Dina\u00a0A.","family":"Schott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem\u00a0J.M.","family":"Gerver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance\u00a0T.R.M.","family":"Stumpel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,8,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80256-9"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80255-7"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21416"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37930"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000184355"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200201000-00015"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-5182(05)80570-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000449221"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3059"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3060"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000069321"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.11.6984"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2017"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70161-3"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.81.2.8636281"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82540-5"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000185018"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01591.x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6225"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1159\/000023572"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479368","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479368","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:44:25Z","timestamp":1745426665000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000479368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":23,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2017,10,18]]},"published-print":{"date-parts":[[2017,10,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000479368","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}