{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:51:16Z","timestamp":1790905876795,"version":"4.1.0"},"reference-count":31,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<b><i>Background:<\/i><\/b> Growth hormone (GH) has been used to treat children with GH deficiency (GHD) since 1966. <b><i>Aims:<\/i><\/b> Using a combined retrospective and cross-sectional approach, we explored the long-term outcomes of patients with GHD, analysed factors influencing therapeutic response, determined persistence into adulthood, investigated pituitary morphology, and screened for mutations in causative genes. <b><i>Methods:<\/i><\/b> The files of 96 GH-deficient children were reviewed. In a subset of 50 patients, re-assessment in adulthood was performed, including GHRH-arginine testing, pituitary magnetic resonance imaging (MRI), and mutational screening for the growth hormone-1 gene <i>(GH1)<\/i> and the GHRH receptor gene <i>(GHRHR)<\/i> in isolated GHD (IGHD), and <i>HESX1<\/i>, <i>PROP1<\/i>, <i>POU1F1<\/i>, <i>LHX3<\/i>, <i>LHX4<\/i>, and <i>GLI2<\/i> in multiple pituitary hormone deficiency (MPHD) patients. <b><i>Results:<\/i><\/b> GH was started at a height SDS of -3.2 \u00b1 1.4 in IGHD patients and of -4.1 \u00b1 2.1 in MPHD patients. Relative height gain was 0.3 SDS\/year, absolute gain 1.6 SDS, and 1.2\/2.6 SDS in IGHD\/MPHD, respectively. Mid-parental target height was reached in 77%. Initial height SDS, bone age retardation and duration of GH replacement were correlated with height SDS gain. GHD persisted into adulthood in 19 and 89% of subjects with IGHD and MPHD, respectively. In 1\/42 IGHD patients a <i>GH1<\/i> mutation was detected; <i>PROP1<\/i> mutations were found in 3\/7 MPHD subjects. Anterior pituitary hypoplasia, combined with posterior pituitary ectopy and pituitary stalk invisibility on MRI, was an exclusive finding in MPHD patients. <b><i>Conclusions:<\/i><\/b> GH replacement successfully corrects the growth deficit in children with GHD. While the genetic aetiology remains undefined in most cases of IGHD, <i>PROP1<\/i> mutations constitute a major cause for MPHD. Persistence of GHD into adulthood is related to abnormal pituitary morphology.<\/jats:p>","DOI":"10.1159\/000448098","type":"journal-article","created":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T21:01:30Z","timestamp":1470171690000},"page":"106-116","source":"Crossref","is-referenced-by-count":23,"title":["Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement"],"prefix":"10.1159","volume":"86","author":[{"given":"Julia","family":"Rohayem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Drechsel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Tittel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Pfaeffle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,8,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01829"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0631"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01797"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01989"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1025337"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.325.7355.70"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000049976"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2284"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.79.2.8045974"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.7.4106"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000329161"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199604001-01781"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1259"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199511000-00017"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6189"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000087759"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.3.222"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.4.3892"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.10.6858"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0383"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.2.3726"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.19.2.0329"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199804001-00625"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-147"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1159\/000057962"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.126"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.5.5681"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2007.20.5.587"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-010-0211-1"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.9.7828"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0661"}],"container-title":["Hormone 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