{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T05:44:49Z","timestamp":1793166289071,"version":"4.5.0"},"reference-count":102,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T00:00:00Z","timestamp":1768521600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010381","name":"The European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Short stature may be caused by a multitude of conditions, including genetic and non-genetic causes. Over the last decade, advances in genetic sequencing technologies have revolutionized our understanding of the underlying physiology of growth and greatly increased our ability to identify genetic etiologies of short stature. The current guideline provides a general overview of the approach to the evaluation of a child with short stature, followed by recommendations identifying factors in the medical and family history, physical examination, radiographic, and laboratory work up which increase the likelihood of identifying a genetic etiology. An algorithm is proposed for the genetic workup of individuals with short stature based on their clinical presentation. The benefits and risks of genetic testing are discussed as well.<\/jats:p>","DOI":"10.1093\/ejendo\/lvag013","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T12:38:09Z","timestamp":1768394289000},"page":"R17-R36","source":"Crossref","is-referenced-by-count":18,"title":["International guideline on genetic testing of children with short stature"],"prefix":"10.1093","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4890-0262","authenticated-orcid":false,"given":"Andrew","family":"Dauber","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Children's National Hospital, Department of Pediatrics, The George Washington University School of Medicine and Health Sciences , Washington, DC 20010 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander A L","family":"Jorge","sequence":"additional","affiliation":[{"name":"Genetic Endocrinology Unit (LIM25), Endocrinology Division, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HC-FMUSP) , S\u00e3o Paulo 01246-903 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9986-8138","authenticated-orcid":false,"given":"Ola","family":"Nilsson","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology (ERN BOND, ENDO ERN) and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital , SE-17177 Stockholm ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1333-7580","authenticated-orcid":false,"given":"Olaf M","family":"Dekkers","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Leiden University Medical Center , 2333 ZA Leiden ,","place":["The Netherlands"]},{"name":"Department of Endocrinology, Leiden University Medical Center , 2333 ZA Leiden ,","place":["The Netherlands"]},{"name":"Department of Clinical Epidemiology, Aarhus University and Aarhus University Hospital , 8200 Aarhus ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5826-0276","authenticated-orcid":false,"given":"Jes\u00fas","family":"Argente","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Ni\u00f1o Jes\u00fas, La Princesa Research Institute, Department of Pediatrics, Universidad Aut\u00f3noma de Madrid , 28006 Madrid ,","place":["Spain"]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Fisiolog\u00eda de la Obesidad y Nutrici\u00f3n (CIBEROBN), Instituto de Salud Carlos III. 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