{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:27:08Z","timestamp":1792193228859,"version":"4.4.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>We conducted a national observational multicenter study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X\/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Birth weight, length (<jats:italic>P<\/jats:italic>&lt;0.0001), and head circumference (<jats:italic>P<\/jats:italic>&lt;0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3\u201311.8) years and after adjustment for age and correction for multiple testing (<jats:italic>P<\/jats:italic>&lt;0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0\u201321.8) years and with additional adjustment for dose and duration of GH treatment (<jats:italic>P<\/jats:italic>=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X\/46,XX karyotypes or a Y chromosome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-15-1000","type":"journal-article","created":{"date-parts":[[2015,12,15]],"date-time":"2015-12-15T04:33:48Z","timestamp":1450154028000},"page":"281-288","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":21,"title":["X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome"],"prefix":"10.1093","volume":"174","author":[{"given":"Elodie","family":"Fiot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Zenaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscilla","family":"Boizeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Haigner\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"L\u00e9ger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"_","family":"_","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"key":"2016011518231081000_174.3.281.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(97)00237-0"},{"key":"2016011518231081000_174.3.281.2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510657"},{"key":"2016011518231081000_174.3.281.3","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/ldn015"},{"key":"2016011518231081000_174.3.281.4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-1245"},{"key":"2016011518231081000_174.3.281.5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0558"},{"key":"2016011518231081000_174.3.281.6","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004175"},{"key":"2016011518231081000_174.3.281.7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0158"},{"key":"2016011518231081000_174.3.281.8","doi-asserted-by":"crossref","unstructured":"Elsheikh M Dunger D Conway G Wass JA . 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