ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2020
High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Psychological and Motor Effects of Testosterone Therapy in Adolescents With XXY/Klinefelter Syndrome
Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment
Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.Prenatal diagnosis · 2026Article
- Toward Precision Medicine in Atherosclerotic Cardiovascular Disease: Insights from Omics Data into Sex Differences.Current atherosclerosis reports · 2025Review
- Article
- Epigenetic Clock Analysis of Sex Chromosome Aneuploidies.Aging cell · 2025Article
- Health risks associated with infertility and non-obstructive azoospermia.Asian journal of andrology · 2025Review
- Understanding the Neuropsychological Implications of Klinefelter Syndrome in Pediatric Populations: Current Perspectives.Pediatric reports · 2024Review
- Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter Syndrome Patients: A Pilot Study.International journal of molecular sciences · 2024Article
- Environmental and Genetic Traffic in the Journey from Sperm to Offspring.Biomolecules · 2023Review
- The impact of chromosomal sex on cardiometabolic health and disease.Trends in endocrinology and metabolism: TEM · 2023Review
- Reproductive hormones, bone mineral content, body composition, and testosterone therapy in boys and adolescents with Klinefelter syndrome.Endocrine connections · 2023Article
- Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism.Endocrine connections · 2023Article
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- Testosterone deficiency and metabolic disturbances in men who fathered a child by use of donated spermatozoa.Scientific reports · 2022Article
- Metabolic and Nutritional Aspects in Paediatric Patients with Klinefelter Syndrome: A Narrative Review.Nutrients · 2022Review
- Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Evaluation of the Efficacy of Transdermal and Injection Testosterone Therapy in Klinefelter Syndrome: A Real-Life Study.Journal of the Endocrine Society · 2021Article
- Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Sex chromosome aneuploidies in 2020-The state of care and research in the world.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Klinefelter syndrome (KS) occurs in 1:600 males and is associated with high morbidity and mortality due to diabetes and cardiovascular disease. Up to 50% of men with KS have metabolic syndrome, a cluster of features conferring increased risk for diabetes and cardiovascular disease. These cardiometabolic (CM) risk features have not been studied in adolescents with KS. The objective of this cohort study was to compare CM risk features in adolescents with KS to controls matched for sex, age, and BMI z score. Fifty males with KS (age 10-17 years) were well-matched to male controls (n = 50) for age (14.0 ± 1.7 vs. 14.0 ± 1.5 years) and BMI z score (0.3 ± 1.3 vs. 0.4 ± 1.2). Three CM risk features were present in 30% of adolescents with KS compared to 12% of controls (RR 2.5, 95% CI 1.1-5.9, p = .048). The KS group had significantly lower HDL cholesterol (p = .006), higher triglycerides (p < .001), and greater waist circumference percentile (p < .001). Despite a normal BMI, the prevalence of CM risk features was very high in adolescents with KS, particularly for central adiposity and dyslipidemia. The pathophysiology of this metabolic profile independent of obesity needs further investigation to facilitate prevention of the high morbidity of cardiovascular disease and diabetes in this population. ClinicalTrials.gov identifiers: NCT01585831 and NCT02723305.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.