A prospective study of lipids in adult women with Turner syndrome
Open accessAbstract
Abstract Context Turner syndrome (TS) is a rare genetic syndrome with an increased mortality, mainly attributed to cardiovascular disease. Objective This work aimed to investigate and correlate the lipid profile in adult women with TS to clinical characteristics. Methods A 12-year prospective cohort study, including 4 study visits, was conducted at a specialist hospital. A total of 102 women with TS qualified for inclusion. Excluding missing variables and participants lost to follow-up, 86 women (mean age 38.1 years; range, 18.4-62.1 years) were included in this study. Fifty-three women completed the study. Repeated-measurement analysis was performed, using total cholesterol (Total-C), low-density lipoprotein (LDL), triglycerides (TGs), and high-density lipoprotein (HDL) as outcome variables and age, karyotype, body mass index (BMI), treatment with statins, antidiabetics, and hormone replacement therapy as explanatory variables. Principal component analysis (PCA) and partial least squares (PLS) analysis were performed at the first study visit. Results Hyperlipidemia was present in 30% of the TS cohort. Total-C increased with age (0.12 mmol/L/y; P = .016). LDL (P = .08), TGs (P = .14), and HDL (P = .24) were not associated with age. BMI significantly increased total-C (0.19 mmol/L/kg/m2; P = .006), LDL (0.63 mmol/L/kg/m2; P < .001), and TGs (0.80 mmol/L/kg/m2; P < .001) and decreased HDL (−0.59 mmol/L/kg/m2; P < .001). PCA and PLS analysis found correlations between weight and BMI and total-C, LDL, and TGs. Conclusion Hyperlipidemia is more prevalent in adult women with TS across adulthood compared to the background population. Total-C, LDL, TGs, and HDL were significantly associated with BMI characterizing the atherogenic profile in adult women with TS.
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No studies have rigorously defined the effect of dose on BMI, height, weight, or lipids.
“To date, no studies have rigorously defined the effect of dose on BMI, height, weight, or lipids.327-331”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [331]
Individuals with TS and comorbidities often exhibit higher total cholesterol, LDL cholesterol, and triglycerides compared to controls, although severe elevations are infrequently reported.
“Individuals with TS and comorbidities often exhibit higher total cholesterol, LDL cholesterol, and triglycerides compared to controls, although severe elevations are infrequently reported.331,476”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [331]
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”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [331]
Hypercholesterolemia is prevalent in TS and is influenced by numerous intrinsic factors, including obesity, metabolic syndrome, and type 1 or type 2 diabetes.
“Hypercholesterolemia is prevalent in TS and is influenced by numerous intrinsic factors, including obesity, metabolic syndrome, and type 1 or type 2 diabetes.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [331]
A quarter of children and half of young adults with TS have dyslipidemia and hyperlipidemia is present in about 30% of adults and is closely linked with BMI.
“A quarter of children and half of young adults with TS have dyslipidemia450,696,697 and hyperlipidemia is present in about 30% of adults and is closely linked with BMI.331”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [331]
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“%) and is mainly unaffected by age, except total cholesterol [2,67].”
BackgroundHormone replacement in disorders of sex development, and long-term effects
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Adult care of Turner syndrome women
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New genomic understanding and challenges in clinical care of Turner syndrome
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- Authors
- Sandahl, K. J., Just, J., Erlandsen, M., Mortensen, K. H., Andersen, N. H., & Gravholt, C. H.
- Affiliations
- Aarhus University (DK)
- Great Ormond Street Hospital (GB)
- Aalborg University Hospital (DK)
- Corresponding author
- Sandahl, Kristian Juul
- ORCID
- Venue
- Journal of the Endocrine Society
- Publisher
- The Endocrine Society
- Published
- 2023-09-29
- Volume
- 7
- Issue
- 11
- Pages
- bvad124-bvad124
- ISSN
- 2472-1972 (ISSN-L)
- PMC
- PMC10563659
- OpenAlex
- W4387160014
- Cited by
- 14
- References
- 44
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 4
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Journal of the Endocrine Society (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion, cc-by-nc-nd)
- Scopus (Elsevier) (submittedVersion, cc-by-nc-nd)
- Funders
- Lundbeck Foundation
- Danish Heart Foundation
- Augustinus Foundation
- Toyota Foundation
- Aase og Einar Danielsen Foundation
- Novo Nordisk Foundation (NNF13OC0003234, NNF15OC0016474)
- Foundation for the Advancement of Medical Science
- A.P. Møller and Chastine Mc-Kinney Møller Foundation
- Familien Hede Nielsen Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- Turner syndrome, lipid profile, hyperlipidemia, adult women, body mass index, total cholesterol, LDL cholesterol, triglycerides, HDL cholesterol, atherogenic profile, cardiovascular risk, statin therapy, hormone replacement therapy
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