Cardiometabolic health in Turner syndrome
Open accessAbstract
Individuals with Turner syndrome (TS) have a higher morbidity and mortality compared to the general population. Diabetes and cardiovascular disease are the major contributors to this burden. Precursors to diabetes and cardiovascular disease make up what is known as metabolic syndrome, including abdominal obesity, hypertension, dyslipidemia, and elevated fasting glucose. These features of poor cardiometabolic health are also prevalent among women with TS. Youth with TS also exhibit many of these features, indicating that the pathogenesis of these cardiometabolic conditions may begin early in life. The etiology of the increased risk of cardiometabolic conditions in TS is likely multifactorial, involving genetics, epigenetics, hypogonadism, medical comorbidities, medications, and lifestyle. Counseling for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS. Clinical practice guidelines are now available to guide screening and treatment of cardiometabolic conditions in girls and women with TS.
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The major risk factors for ischemic heart disease in TS are hypertension, diabetes, and the metabolic syndrome.
“The major risk factors for ischemic heart disease in TS are hypertension, diabetes, and the metabolic syndrome.481”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [481]
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Jumani, S., Lehembre-Shiah, E., Kaur, H., Brookhart, C. D., Das, K. J. H., Gordon, C. M., Maher, J. Y., Jovanovic, M., Adams, M., & Gomez‐Lobo, V. (2026) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2026.10.002
- Authors
- Davis, S. M., & Geffner, M. E.
- Affiliations
- University of Colorado Anschutz (US)
- Children's Hospital Los Angeles (US)
- Corresponding author
- Davis, Shanlee M.
- Venue
- American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2019-02-18
- Volume
- 181
- Issue
- 1
- Pages
- 60-66
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- PMC
- PMC7382389
- OpenAlex
- W2917697090
- Cited by
- 37
- References
- 56
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 5 · 2023: 6 · 2022: 12 · 2021: 3 · 2020: 2 · 2019: 2
- FWCI
- 0.64
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K23HD092588)
- Patient-Centered Outcomes Research Institute (#10460)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, cardiometabolic health, metabolic syndrome, diabetes mellitus, cardiovascular disease, abdominal obesity, hypertension, dyslipidemia, fasting blood glucose, hypogonadism, epigenetics, screening, prevention
- MeSH terms
- Cardiovascular Diseases, Diabetes Mellitus, Type 2, Female, Humans, Risk, Turner Syndrome, Metabolic Syndrome
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