{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:38:37Z","timestamp":1790800717071,"version":"4.1.0"},"reference-count":42,"publisher":"The Endocrine Society","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Aim: Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark.<\/jats:p>\n                  <jats:p>Methods: Using the Danish Cytogenetic Register, we identified all cases (n = 781) of TS alive in Denmark during 1970\u20132001. Sixty-nine deceased women with TS were identified in the Causes of Death Register. We divided the cohort into women having the karyotype 45,X, karyotypes including an isochromosome Xq, and all other karyotypes associated with TS. We describe the number of patients diagnosed in Denmark yearly, incidence rates, and the age at diagnosis. Standardized mortality ratios (SMR) were calculated.<\/jats:p>\n                  <jats:p>Results: A total of 349 women had a 45,X karyotype, 86 had a karyotype including an isochromosome Xq (isoXq), and 346 had another TS karyotype. Mortality was increased in TS with an SMR of 2.86 (95% confidence interval, 2.18\u20133.55). SMR was increased for coronary diseases, congenital malformations, endocrine diseases, and other causes. The mortality was increased for all types of karyotypes in comparison with the general population but was highest among females with 45,X and isoXq. There was a steady increase in prevalence, but incidence was unchanged. Age at diagnosis was mainly distributed in three periods: less than 1 yr of age (14.9%), during adolescence (10\u201317 yr) (33.2%), and during adulthood (38.5%), with a median age at diagnosis of 15.1 yr, decreasing during the study period (P &amp;lt; 0.01).<\/jats:p>\n                  <jats:p>Conclusions: Patients with TS and especially the karyotypes 45,X and isoXq have a higher mortality compared with the background population. TS was diagnosed with a considerable diagnostic delay. Prevalence is increasing, but incidence of TS was stable.<\/jats:p>","DOI":"10.1210\/jc.2006-0558","type":"journal-article","created":{"date-parts":[[2006,7,18]],"date-time":"2006-07-18T20:34:51Z","timestamp":1153254891000},"page":"3897-3902","source":"Crossref","is-referenced-by-count":541,"title":["Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome"],"prefix":"10.1210","volume":"91","author":[{"given":"Kirstine","family":"Stochholm","sequence":"first","affiliation":[{"name":"Medical Department M (Endocrinology and Diabetes) (K.S., C.H.G.), DK-8000C Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svend","family":"Juul","sequence":"additional","affiliation":[{"name":"Aarhus Sygehus NBG, Aarhus University Hospital, and Department of Epidemiology (S.J.), Institute of Public Health, Aarhus University, DK-8000C Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knud","family":"Juel","sequence":"additional","affiliation":[{"name":"National Institute of Public Health (K.J.), DK-1399K Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rune Weis","family":"Naeraa","sequence":"additional","affiliation":[{"name":"Pediatric Department (R.W.N.), Randers Centralsygehus, DK-8900 Randers, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus","family":"H\u00f8jbjerg Gravholt","sequence":"additional","affiliation":[{"name":"Medical Department M (Endocrinology and Diabetes) (K.S., C.H.G.), DK-8000C Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071613432132400_R1","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1007\/BF00209476","article-title":"Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features","volume":"95","author":"Ogata","year":"1995","journal-title":"Hum Genet"},{"key":"2020071613432132400_R2","doi-asserted-by":"crossref","first-page":"E11","DOI":"10.1542\/peds.101.1.e11","article-title":"Cardiovascular malformations and complications in Turner syndrome","volume":"101","author":"Sybert","year":"1998","journal-title":"Pediatrics"},{"key":"2020071613432132400_R3","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0895-4356(97)00237-0","article-title":"Morbidity in Turner syndrome","volume":"51","author":"Gravholt","year":"1998","journal-title":"J Clin Epidemiol"},{"key":"2020071613432132400_R4","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1136\/jech.40.2.97","article-title":"Mortality ratios, life expectancy, and causes of death in patients with Turner\u2019s syndrome","volume":"40","author":"Price","year":"1986","journal-title":"J Epidemiol Community Health"},{"key":"2020071613432132400_R5","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1046\/j.1469-1809.2001.6520177.x","article-title":"Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study","volume":"65","author":"Swerdlow","year":"2001","journal-title":"Ann Hum Genet"},{"key":"2020071613432132400_R6","first-page":"29","article-title":"Measures of disease frequency","author":"Rothman","year":"1998","journal-title":"In: Rothman KJ, Greenland S, eds. 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