{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T02:09:37Z","timestamp":1780106977284,"version":"3.54.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>SHOX plays an important role in growth plate development and function. The clinical implications of duplications of the SHOX region remain uncertain. We evaluated phenotypic characteristics, genotype\u2013phenotype correlations and the response to treatment with recombinant human growth hormone (rhGH) in children with duplications of the SHOX region.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Twenty-five children (15 boys and 10 girls) with a likely pathogenic duplication and &amp;gt;1 year of rhGH treatment were identified in the Dutch National Registry of GH treatment in children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified 23 different duplications of the SHOX region in 25 children. Median (IQR) height was \u22122.5 SDS (\u22123.0 to \u22122.1). The majority (76%) had features of SHOX haploinsufficiency, most frequently an increased sitting-height-to-height (SH\/H) ratio. No height differences were found between duplication types. In 19 prepubertal children, median age at start of rhGH was 6.9 years (5.8 to 9.6), and median height gain after 1 year was 0.8 SDS (0.7 to 1.1). Adult height (AH) was reached in 7 children, with a median of \u22121.1 SDS (\u22122.1 to \u22120.3). For pubertal children, median age at start of rhGH was 12.0 years (11.0 to 13.6), and median height gain after 1 year was 0.4 SDS (0.1 to 0.8). AH was reached in 3 children, with a median of \u22122.9 SDS (\u22123.6 to \u22122.7).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The majority of children had features associated with SHOX haploinsufficiency, with an increased SH\/H ratio most frequently described. Furthermore, rhGH treatment leads to a significant growth response in prepubertal children with a duplication of the SHOX region.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvag068","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T12:53:32Z","timestamp":1776430412000},"page":"615-626","source":"Crossref","is-referenced-by-count":0,"title":["Clinical features and growth harmone response in 25 children with duplications in the\n                    <i>SHOX<\/i>\n                    region"],"prefix":"10.1093","volume":"194","author":[{"given":"Floor","family":"Roelofsen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital , Rotterdam, GD 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"van Bostelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center , Leiden, ZG 2333 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina G","family":"Kant","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus University Medical Center , Rotterdam, GD 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Losekoot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center , Leiden, ZG 2333 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00eblle C M","family":"van der Kaay","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital , Rotterdam, GD 3015 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6772-0427","authenticated-orcid":false,"given":"Judith S","family":"Renes","sequence":"additional","affiliation":[{"name":"Dutch Growth Research Foundation , Rotterdam, AH 3016 ,","place":["The Netherlands"]},{"name":"Department of Pediatrics, Albert Schweitzer Hospital , Dordrecht, AT 3318 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Dutch Growth Hormone Advisory Board","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boudewijn","family":"Bakker","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht , Utrecht ,","place":["The Netherlands"]},{"name":"Department of Pediatrics, Reinier de Graaf Hospital , Delft ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willie M","family":"Bakker-van Waarde","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Subdivision of Endocrinology, University Medical Center Groningen, Beatrix Children\u2019s Hospital, University of Groningen , Groningen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies E","family":"Brandsma","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, Obesity Center CGG, Maasstad Hospital , Rotterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1478-2261","authenticated-orcid":false,"given":"Christiaan","family":"de Bruin","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, Leiden University Medical Center, Willem-Alexander Children\u2019s Hospital , Leiden ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermine A","family":"van Duyvenoorde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center , Leiden ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita C S","family":"Hokken-Koelega","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children\u2019s Hospital , Rotterdam ,","place":["The Netherlands"]},{"name":"Dutch Growth Research Foundation , Rotterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"de Kort","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Haga Hospital-Juliana Children's Hospital , The Hague ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelieke","family":"van der Linde","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Amphia Hospital , Breda ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiaan F","family":"Mooij","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo","family":"Sas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children\u2019s Hospital , Rotterdam ,","place":["The Netherlands"]},{"name":"Department of Pediatrics, Diabeter, Centre for Pediatric and Adult Diabetes Care and Research , Rotterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Schott","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Zuyderland Medical Centre , Sittard - Geleen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5957-9182","authenticated-orcid":false,"given":"Petra A","family":"van Setten","sequence":"additional","affiliation":[{"name":"Radboud University Medical Centre, Department of Pediatric Endocrinology , Nijmegen ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sander A M J","family":"Spaans","sequence":"additional","affiliation":[{"name":"Dutch Growth Research Foundation , Rotterdam ,","place":["The 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