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Cited by 652Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersImmunodeficiency and Autoimmune Disorders

Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome

Stochholm, Kirstine, Juul, Svend, Juel, Knud, Naeraa, Rune Weis, Højbjerg Gravholt, Claus·2006·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2006-0558
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Abstract

AIM: Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark. METHODS: Using the Danish Cytogenetic Register, we identified all cases (n = 781) of TS alive in Denmark during 1970-2001. 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. 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, 2.18-3.55). 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 (10-17 yr) (33.2%), and during adulthood (38.5%), with a median age at diagnosis of 15.1 yr, decreasing during the study period (P < 0.01). 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.

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  • Individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.

    “Overall, individuals with TS and a 45,X karyotype have a significantly higher frequency of comorbidities and a higher mortality compared to individuals with other TS karyotypes.25-29”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [28]

  • When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.

    “When girls with TS are not identified in infancy by characteristic features such as lymphedema and webbed neck, the diagnosis is often made years after growth failure ensues, and sometimes little or no growth potential remains.28,85-88”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [28]

  • Individuals with TS frequently cope with a lifelong burden of congenital and acquired cardiovascular diseases, which are primarily responsible for the increased mortality of adults with TS.

    “Individuals with TS frequently cope with a lifelong burden of congenital and acquired cardiovascular diseases, which are primarily responsible for the increased mortality of adults with TS.27,28”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [28]

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Authors
Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C.
Affiliations
  • Medical Department M (Endocrinology and Diabetes) (K.S., C.H.G.), DK-8000C Aarhus, Denmark
  • Aarhus University (DK)
  • Danish National Institute of Public Health (DK)
  • Pediatric Department (R.W.N.), Randers Centralsygehus, DK-8900 Randers, Denmark
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2006-10-01
Volume
91
Issue
10
Pages
3897-3902
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2006-0558
OpenAlex
W2081983661
Cited by
652
References
45
Citations by year
2026: 15 · 2025: 31 · 2024: 30 · 2023: 49 · 2022: 36 · 2021: 34 · 2020: 45 · 2019: 57 · 2018: 51 · 2017: 42 · 2016: 25 · 2015: 38 · 2014: 42 · 2013: 29 · 2012: 29
FWCI
8.14
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Keywords
Turner syndrome, prevalence, incidence, delayed diagnosis, mortality, standardized mortality ratio, 45,X karyotype, isochromosome Xq, age at diagnosis, coronary disease, congenital malformations, endocrine disorders, Denmark
MeSH terms
Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Karyotyping, Middle Aged, Turner Syndrome, Incidence, Prevalence

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