{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:30:32Z","timestamp":1782358232454,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,6,6]],"date-time":"2021-06-06T00:00:00Z","timestamp":1622937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Short stature is a common phenotype in children with Schaaf\u2013Yang syndrome (SYS). Prader\u2013Willi syndrome (PWS) and SYS share several phenotypic features including short stature, muscular hypotonia and developmental delay\/intellectual disability. Evidence exists that similar to PWS, growth hormone (GH) deficiency may also be a feature of SYS. Recombinant human GH (rhGH) therapy has been approved for PWS, but the effects of rhGH therapy in individuals with SYS have not yet been documented. This retrospective, questionnaire\u2010based study analyzes the prevalence of rhGH therapy in children with SYS, the effects of rhGH therapy on anthropometric measures, and parental perception of the treatment. Twenty\u2010six individuals with SYS were sent a clinical questionnaire and a request for growth charts. We found a significant increase in height z\u2010score (\n                    <jats:italic>p<\/jats:italic>\n                    *\u00a0=\u00a00.04) as well as a significant decrease in body mass index 6\u2009months after rhGH therapy initiation (\n                    <jats:italic>p<\/jats:italic>\n                    *\u00a0=\u00a00.04). Furthermore, height z\u2010scores of the treated group (mean z\u2010score\u00a0=\u00a0\u22121.00) were significantly higher than those of the untreated group (mean z\u2010score\u00a0=\u00a0\u22123.36,\n                    <jats:italic>p<\/jats:italic>\n                    \u00a0=\u00a00.01) at time of enrollment. All parents reported an increase in muscle strength and endurance, and several families noted beneficial effects such as improved cognition and motor development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14000","type":"journal-article","created":{"date-parts":[[2021,5,20]],"date-time":"2021-05-20T05:30:41Z","timestamp":1621488641000},"page":"298-307","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A retrospective analysis of growth hormone therapy in children with\n                    <scp>Schaaf\u2013Yang<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1921-3244","authenticated-orcid":false,"given":"Nils R.","family":"Hebach","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7531-3234","authenticated-orcid":false,"given":"Pilar","family":"Caro","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0758-8487","authenticated-orcid":false,"given":"Bailey A.","family":"Martin\u2010Giacalone","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Hematology\u2010Oncology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0978-5863","authenticated-orcid":false,"given":"Philip J.","family":"Lupo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Hematology\u2010Oncology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3953-6235","authenticated-orcid":false,"given":"Felix","family":"Marbach","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1631-3883","authenticated-orcid":false,"given":"Daniela","family":"Choukair","sequence":"additional","affiliation":[{"name":"Divison of Paediatric Endocrinology and Diabetology University Children's Hospital  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2148-7490","authenticated-orcid":false,"given":"Christian Patrick","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,6]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2776"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/diseases4010002"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40650"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-018-3775-7"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.53"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33951"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01557-8"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20160616"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.07.033"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2019-00631"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105024"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1997.tb18374.x"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1998.tb01380.x"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0454"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1195-1"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13633-020-00090-6"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03126.x"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.08.002"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1182"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2962"},{"issue":"1","key":"e_1_2_12_22_1","doi-asserted-by":"crossref","first-page":"e000630","DOI":"10.1136\/bmjpo-2019-000630","article-title":"Growth 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Pharmacia and Upjohn Company LLC. 04\/2019."},{"key":"e_1_2_12_24_1","unstructured":"Eight years of growth hormone treatment in a patient with Schaaf\u2010Yang Syndrome. 58th Annual ESPE; 2019. 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