Cited by 113Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersWilliams Syndrome Research

Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome

Landin-Wilhelmsen, Kerstin, Bryman, Inger, Wilhelmsen, Lars·2001·The Journal of Clinical Endocrinology & Metabolism

Abstract

Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.

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Registry

Crossref · 10.1210/jcem.86.9.7818

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  • While increased levels of procoagulant factors and reduced protein C and S were reported in some individuals with TS, most studies have reported normal levels of clotting factors, fibrinolytic factors, and clotting times.

    “While increased levels of procoagulant factors and reduced protein C and S were reported in some individuals with TS,129,474 most studies have reported normal levels of clotting factors, fibrinolytic factors, and clotting times.455”
  • The prevalence of hypertension is as high as 20%-40% in children and up to 60% in adults with TS.

    “The prevalence of hypertension is as high as 20%-40% in children441,453 and up to 60% in adults with TS.357,452,454-456”
  • There does not seem to be a specific dyslipidemia associated with TS.

    “There does not seem to be a specific dyslipidemia associated with TS.331,455”
  • The available literature shows that girls and women with TS do not meet current general recommendations for physical activity, which is concerning because less physical activity has been associated with excess weight gain and hypertension in adults with TS.

    “The available literature shows that girls and women with TS do not meet current general recommendations for physical activity,357,455,496-498 which is concerning because less physical activity has been associated with excess weight gain and hypertension in adults with TS.”

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Authors
Landin-Wilhelmsen, K., Bryman, I., & Wilhelmsen, L.
Affiliations
Sahlgrenska University Hospital (SE)
Venue
The Journal of Clinical Endocrinology & Metabolism
Published
2001-09
Volume
86
Issue
9
Pages
4166-4170
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
OpenAlex
W2037242308
Cited by
113
References
31
Citations by year
2025: 1 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 4 · 2020: 2 · 2019: 6 · 2018: 7 · 2017: 2 · 2016: 1 · 2015: 3 · 2014: 1 · 2013: 7 · 2012: 3
FWCI
2.73
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 › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Turner syndrome, congenital heart disease, hypertension, cardiovascular risk factors, smoking, diabetes mellitus, dyslipidemia, fibrinogen, karyotype, 45,X, adult women, cardiovascular anomalies
MeSH terms
Adult, Blood Pressure, Body Weight, Cardiovascular Diseases, Chromosomes, Diabetes Mellitus, Female, Fibrinogen, Heart Defects, Congenital, Humans, Hypertension, Karyotyping, Life Style, Lipids, Male, Middle Aged, Risk Factors, Gonadal Steroid Hormones, Turner Syndrome

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