{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:46:33Z","timestamp":1792194393820,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T00:00:00Z","timestamp":1500854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2017,11]]},"abstract":"Summary<\/jats:title>\n \n Introduction<\/jats:title>\n \n Turner syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, some of which increase in prevalence in adult life. The severity of clinical features in\n TS<\/jats:styled-content>\n is roughly in parallel with the magnitude of the deficit of X\u2010chromosome material. The aim of this study was to extend the established karyotype\u2010phenotype relationships using data from a large adult cohort.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods<\/jats:title>\n \n Karyotypes were available in 656 women with TS. 611 of whom could be classified into five major groups within the cohort: 45,X; 45,X mosaicism (45,X\/46,\n XX<\/jats:styled-content>\n ); isochromosome X (isochromosome Xq); mosaicism 45,X\/46,\n XY<\/jats:styled-content>\n and ring\u00a0X.\n <\/jats:p>\n Continuous variables such as blood pressure and biochemical markers from clinic data were binarised allocating those in the upper quartile to represent at\u2010risk individuals. With the exception of bone mineral density T\u2010score for which the lower quartile was allocated as at risk. For comorbidities, initiation of formal treatment was recorded.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n 45,X\/46,\n XX<\/jats:styled-content>\n had considerably lower frequency of comorbidities compared to 45,X. The isochromosome group experienced similar outcomes to 45,X. Novel associations were found between the\n XY<\/jats:styled-content>\n mosaic karyotype group and a decreased prevalence of thyroid disease and severe hearing loss. A previously unreported increased incidence of metabolic syndrome was noted within the ring chromosome subgroup.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Karyotype may play an important factor against stratifying risk of comorbidity in\n TS<\/jats:styled-content>\n and should be taken into consideration when managing adults with\n TS<\/jats:styled-content>\n . Further investigations of the isochromosome (Xq) and ring groups are necessary to further clarify their associations with comorbidities.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cen.13394","type":"journal-article","created":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T07:39:36Z","timestamp":1497512376000},"page":"532-538","source":"Crossref","is-referenced-by-count":142,"title":["The Turner syndrome life course project: Karyotype\u2010phenotype analyses across the lifespan"],"prefix":"10.1111","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5244-3335","authenticated-orcid":false,"given":"Antoinette","family":"Cameron\u2010 Pimblett","sequence":"first","affiliation":[{"name":"Reproductive Medicine Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clementina","family":"La Rosa","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0383-3433","authenticated-orcid":false,"given":"Thomas F. J.","family":"King","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie C.","family":"Davies","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard S.","family":"Conway","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Unit University College London Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01213097"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510657"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.1771"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0558"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1049"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra030360"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1516-31802009000600010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2011-1059"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-39-79"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.12816\/0006086"},{"issue":"94","key":"e_1_2_7_12_1","first-page":"3289","article-title":"X\u2010chromosome gene dosage and the risk of diabetes in Turner syndrome","volume":"2009","author":"Bakalov VK","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37953"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2015-0346"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-5955(00)00040-X"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.591"},{"key":"e_1_2_7_17_1","first-page":"497","article-title":"The Severe Phenotype of Females with Tiny Ring X Chromosomes Is Associated with Inability of These Chromosomes to Undergo X Inactivation","volume":"55","author":"Migeon BR","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_18_1","first-page":"87","article-title":"Small Marker X Chromosomes Lack the X Inactivation Center: Implications For Karyotype\/Phenotype Correlations","volume":"55","author":"Wolff DJ","year":"1994","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcen.13394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.13394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T12:53:15Z","timestamp":1695473595000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.13394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,24]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/cen.13394"],"URL":"https:\/\/doi.org\/10.1111\/cen.13394","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,24]]}}}