The natural history of metabolic comorbidities in Turner syndrome from childhood to early adulthood: comparison between 45,X monosomy and other karyotypes
Open accessAbstract
Objective: Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic co-morbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods: A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood. Outcome measures included weight status, blood pressure (BP), glucose metabolism and lipid profile. Results: Longitudinal analysis showed a significant change in BMI percentiles over time (F(3,115)=4.8, P=.003). Age was associated with evolution of elevated BP (systolic BP: OR=0.91, P=.003; diastolic BP: OR=0.93, P=.023), impaired glucose metabolism (HbA1c: OR=1.08, P=.029; impaired glucose tolerance: OR=1.12, P=.029) and abnormal lipid profile (cholesterol: OR=1.06, P=.01; LDL-cholesterol: OR=1.07, P=.041; HDL-cholesterol: OR=1.07, P=.033). The occurrence of metabolic co-morbidities was similar in 45,X monosomy and other karyotypes. Coexistence of multiple metabolic co-morbidities was significantly higher in 45,X monosomy [F(1,72)=4.81, P=.032]. BMI percentiles were positively correlated with metabolic co-morbidities (occurrence and number) in each patient (r=0.35, P=.002 and r=0.383, P=.001, respectively). Conclusions: Our longitudinal study provides unique insights into the evolution of weight gain and metabolic disorders from childhood to early adulthood in TS patients. Since overweight and increasing age aggravate the risk for metabolic co-morbidities, careful surveillance is warranted to prevent and control obesity already from childhood. The more prominent clustering of metabolic co-morbidities in 45,X monosomy underscores the importance of a more vigorous intervention in this group.
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Hypertension is three to four times more prevalent in individuals with TS than in matched controls and does not vary significantly by karyotype.
“Hypertension is three to four times more prevalent in individuals with TS than in matched controls and does not vary significantly by karyotype.450-452”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [450]
Systemic hypertension appears at early ages and progresses in frequency and severity throughout adulthood in TS.
“Systemic hypertension appears at early ages and progresses in frequency and severity throughout adulthood.384,450”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [450]
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 [450]
Individuals with TS have a prevalence of overweight/obesity as high as 48% with some variation due to small samples sizes, age, definitions, and local prevalence of overweight/obesity.
“Individuals with TS have a prevalence of overweight/obesity as high as 48% with some variation due to small samples sizes, age, definitions, and local prevalence of overweight/obesity.450,693-697”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [450]
Some studies have found an association of metabolic abnormalities with monosomy X, ring X, isochromosome Xq, and Xp deletion, however findings are inconsistent and require more data before clinical interpretation.
“Some studies have found an association of metabolic abnormalities with monosomy X, ring X, isochromosome Xq, and Xp deletion, however findings are inconsistent and require more data before clinical interpretation.450,630,697,703”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [450]
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- Authors
- Lebenthal, Y., Levy, S., Sofrin-Drucker, E., Nagelberg, N., Weintrob, N., Shalitin, S., de Vries, L., Tenenbaum, A., Phillip, M., & Lazar, L.
- Affiliations
- Tel Aviv University (IL)
- Academic College of Tel Aviv-Yafo (IL)
- Schneider Children's Medical Center (IL)
- Corresponding author
- Lebenthal, Yael
- ORCID
- Venue
- Frontiers in Endocrinology
- Publisher
- Frontiers Media SA
- Published
- 2018-02-09
- Volume
- 9
- Pages
- 27-27
- ISSN
- 1664-2392 (ISSN-L)
- PMC
- PMC5811462
- OpenAlex
- W2793636792
- Cited by
- 60
- References
- 42
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 6 · 2023: 7 · 2022: 11 · 2021: 9 · 2020: 7 · 2019: 7
- FWCI
- 3.53
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Frontiers in Endocrinology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- 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 › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- Turner syndrome, 45,X monosomy, metabolic comorbidities, obesity, body mass index, blood pressure, impaired glucose metabolism, lipid profile, impaired glucose tolerance, HbA1c, karyotype, childhood to early adulthood, weight gain, cardiovascular risk, dyslipidemia, diabetes risk
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