{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:03:56Z","timestamp":1790420636830,"version":"4.1.0"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Turner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and methods<\/jats:title>\n                    <jats:p>\n                      This national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009549), 45,X\/46,isoXq (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009280), 46,X,r(X)\/46,XX (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009106), 45,X\/46,XX (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009221), presence of Y (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200987).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Median age was 9.4 (3.7\u201313.7) years at first evaluation and 16.8 (11.2\u201321.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X\/46,isoXq and 46,X,r(X)\/46,XX patients than in those with 45,X\/46,XX mosaicism or a Y chromosome (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.0001). The cumulative incidence of subsequent acquired conditions, such as thyroid disease, hearing loss, overweight\/obesity, dyslipidemia and, to a lesser extent, celiac disease, glucose intolerance\/type 2 diabetes, hypertension and liver dysfunction increased with age, but less markedly for patients with mosaicism than for those with other karyotypes. Patients with a ring chromosome were more prone to metabolic disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/eje-18-0878","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T11:34:30Z","timestamp":1555414470000},"page":"397-406","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":46,"title":["X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood"],"prefix":"10.1093","volume":"180","author":[{"given":"Elodie","family":"Fiot","sequence":"first","affiliation":[{"name":"1Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 University Hospital, Pediatric Endocrinology Diabetology Department, Reference Centre for Endocrine Growth and Development Diseases, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Z\u00e9naty","sequence":"additional","affiliation":[{"name":"1Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 University Hospital, Pediatric Endocrinology Diabetology Department, Reference Centre for Endocrine Growth and Development Diseases, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscilla","family":"Boizeau","sequence":"additional","affiliation":[{"name":"2AP-HP, H\u00f4pital Robert Debr\u00e9 University Hospital, Unit of Clinical Epidemiology, Paris, France"},{"name":"3Inserm, CIC-EC 1426, Paris, 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