Cited by 548Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersDown syndrome and intellectual disability research

Morbidity in Turner syndrome

Gravholt, Claus Højbjerg, Juul, Svend, Naeraa, Rune Weis, Hansen, Jan·1998·Journal of Clinical Epidemiology

Abstract

Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by retarded growth, gonadal dysgenesis, and infertility. Much attention has been focused on growth and growth promoting therapies, while less is known about the natural course of the syndrome, especially in adulthood. We undertook this study to assess the incidence of diseases relevant in the study of Turner syndrome. The study period was from January 1, 1984 to December 31, 1993, and the study base was all women living in Denmark during the study period. We used data from the Danish Cytogenetic Central Register and the Danish National Registry of Patients to assess morbidity. This study supports several earlier studies reporting increased morbidity and confirms results of a recent study on cancer in Turner syndrome. Women with Turner syndrome seem to have an increased incidence of fractures, osteoporotic fractures in adulthood, and non-osteoporotic fractures in childhood. Furthermore, diabetes mellitus, both NIDDM and IDDM, was found with a markedly increased incidence in Turner syndrome, as well as ischemic heart disease, hypertension, and stroke. The risk of cancer, except cancer of the large bowel, does not seem to be elevated in Turner syndrome. Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and hyperuricemia). The present data may help to explain the decreased life span found in patients with Turner syndrome.

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Crossref · 10.1016/s0895-4356(97)00237-0

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Authors
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J.
Affiliations
  • Aarhus University (DK)
  • Aarhus University Hospital (DK)
Corresponding author
Gravholt, Claus Højbjerg
Venue
Journal of Clinical Epidemiology
Publisher
Elsevier BV
Published
1998-02
Volume
51
Issue
2
Pages
147-158
ISSN
0895-4356 (ISSN-L)
OpenAlex
W2037733089
Cited by
548
References
98
Citations by year
2026: 8 · 2025: 15 · 2024: 18 · 2023: 23 · 2022: 15 · 2021: 19 · 2020: 20 · 2019: 27 · 2018: 26 · 2017: 24 · 2016: 18 · 2015: 26 · 2014: 16 · 2013: 22 · 2012: 22
FWCI
7.23
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Clinical Epidemiology (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
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
Turner syndrome, morbidity, disease incidence, osteoporotic fractures, diabetes mellitus, type 2 diabetes, type 1 diabetes, ischemic heart disease, hypertension, stroke, cancer risk, metabolic syndrome, dyslipidemia, hyperinsulinemia, hyperuricemia, adult women
MeSH terms
Adolescent, Adult, Aged, Child, Child, Preschool, Denmark, Female, Humans, Infant, Karyotyping, Middle Aged, Morbidity, Registries, Risk Factors, Turner Syndrome, Comorbidity, Incidence, Age Distribution

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