ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
- ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies.Bioinformatics (Oxford, England) · 2026Article
- Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.Brain sciences · 2026Review
- Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.American journal of human genetics · 2025Article
- An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.Genome research · 2025Article
- X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.Antioxidants (Basel, Switzerland) · 2025Review
- Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.JAMA network open · 2024Article
- Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.Frontiers in endocrinology · 2024Review
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.Endocrine connections · 2023Review
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- Molecular genetic analysis of 1,980 cases of male infertility.Experimental and therapeutic medicine · 2023Article
- [Chronic venous leg ulcers in association with postthrombotic syndrome in an XYY patient with a history of estrogen therapy].Dermatologie (Heidelberg, Germany) · 2023Article
- Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.Endocrine connections · 2023Review
- New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.Endocrine connections · 2023Review
- Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.Journal of community genetics · 2023Review
- Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?Prenatal diagnosis · 2023Review
- A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.BMC urology · 2022Review
- Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis.Journal of personalized medicine · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication.
methodsAll males in Denmark diagnosed with 47,XYY syndrome during 1960-2014 were identified. Each was matched with 100 male controls from the general population. Diagnoses related to hospital encounters (1977-2014) and prescriptions (1996-2014) were analyzed by negative binominal regression and Cox regression, respectively.
results47,XYY syndrome was associated with a significantly increased overall incidence of hospital diagnoses (incidence rate ratio = 2.30, confidence interval [CI]: 1.99-2.65), including a significantly increased incidence of diagnoses associated with congenital malformations and genetic disorders as well as with psychiatric, neurologic, respiratory, urogenital, endocrine, circulatory, gastrointestinal, and musculoskeletal system disorders. Diagnoses associated with infections, skin and eye disorders were significantly increased as well. 47,XYY syndrome was associated with a significantly increased occurrence of prescriptions overall (hazard ratio = 1.25, CI: 1.10-1.44), with sex hormones and medication related to the urogenital system, blood, and nervous system being most prominently increased.
conclusion47,XYY syndrome is associated with a significantly increased morbidity owing to a wide variety of diseases. Increased awareness of the diverse morbidity in 47,XYY syndrome may help guide clinicians assessing 47,XYY males, thereby improving long-term health outcomes.
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