ArticleThe Journal of clinical endocrinology and metabolism2024
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- A rare case report: atypical presentation of Klinefelter syndrome in a 24-year-old male at suburban tertiary care hospital in Nepal.Annals of medicine and surgery (2012) · 2026Article
- Vascular Ageing in Conditions Associated with Early-Onset Hypogonadism.Journal of vascular research · 2026Article
- Phenotypic variability in Klinefelter syndrome: clinical findings including reported fatherhood.Endocrine · 2026Article
- Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.Molecular genetics & genomic medicine · 2026Article
- Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.Antioxidants (Basel, Switzerland) · 2025Review
- Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.European journal of pediatrics · 2025Article
- Case Report: Diabetic ketoacidosis in a patient with Klinefelter syndrome: a rare and complex presentation.Frontiers in endocrinology · 2025Article
- From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.The Journal of clinical endocrinology and metabolism · 2024Article
- Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report.Children (Basel, Switzerland) · 2024Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveHigh-grade aneuploidies of X and Y sex chromosomes (HGAs) are exceedingly rare and complex conditions. We aimed to investigate the effect of supernumerary X chromosomes (extra-Xs) on the clinical, hormonal, metabolic, and echocardiographic features of patients with HGAs. DESIGN AND
methodsIn a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndrome (KS), according to the number of extra-Xs: two (47,XXY and 48,XXYY), three (48,XXXY and 49,XXXYY), or four supernumerary Xs (49,XXXXY). A second cohort consisting of 46 pubertal stage-matched KS subjects was employed for validation. Clinical, hormonal, metabolic and ultrasonographic parameters were collected and analyzed.
resultsThe increase in the number of extra-Xs was associated with a progressive adverse effect on height, pubertal development, testicular volume and function, adrenal steroidogenesis, and thyroid function. A progressive linear increase in ACTH and a decrease in cortisol/ACTH ratios were found. Weight and body mass index, Sertoli cell function, lipid profile, and glucose tolerance post-oral glucose tolerance test were all worse in the HGA cohort compared to KS. Cardiac evaluation revealed a linear association with reduced left and right end-diastolic diameters and reduced ejection fraction.
conclusionThe increase in the number of extra-Xs is associated with a "dose-dependent" progressive impairment in steroid producing glands, thyroid function, cardiac structure, and performance.
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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.