ReviewEndocrine connections2023
Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.
Review in Endocrine connections, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY.Brain and behavior · 2023Pooled it
- Vascular Ageing in Conditions Associated with Early-Onset Hypogonadism.Journal of vascular research · 2026Article
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Jacob's Syndrome and Hearing Loss: A Case Study.Clinical case reports · 2026Article
- Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.Brain sciences · 2026Review
- Neurocognitive function in males with 46,XX testicular difference of sex development.Orphanet journal of rare diseases · 2025Article
- Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.International journal of molecular sciences · 2025Article
- Continuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS).Endocrine connections · 2025Article
- Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- 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
- Male Infertility and Reduced Life Expectancy: Epidemiology, Mechanisms, and Clinical Implications.Journal of clinical medicine · 2025Review
- Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis.Endocrine connections · 2025Review
- The hidden in plain sight: global, regional, and national trends in the pediatric burden of Klinefelter syndrome, 1990-2021.Frontiers in genetics · 2025Article
- Mild liver dysfunction in Klinefelter syndrome is associated with abdominal obesity and elevated lipids but not testosterone treatment.Journal of endocrinological investigation · 2024Article
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC pediatrics · 2024Review
- Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.JAMA network open · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Context: Klinefelter syndrome (KS, 47,XXY) and 47,XYY syndrome are genetic conditions characterized by a supernumerary sex chromosome. The conditions share many traits, but considerable phenotypic differences are seen between the two. Focusing on morbidity, mortality, and socioeconomics, this review highlights similarities and differences. Methods: Relevant literature was identified through PubMed with the following search terms; 'Klinefelter', '47,XXY', '47,XYY', and 'Jacobs syndrome'. Included journal articles were chosen at the authors' discretion. Results: KS and 47,XYY are the most common sex chromosome disorders in males, with an expected prevalence of 152 and 98 per 100,000 newborn males, respectively. Non-diagnosis is extensive, as only about 38% of KS and 18% of 47,XYY are diagnosed. Both conditions are associated with an increased mortality risk and increased risk of a variety of diseases and other health-related problems affecting virtually every organ system. Early diagnosis seems to predict a lesser comorbidity burden. Neurocognitive deficits as well as social and behavioral problems are commonly described. Both syndromes are associated with poor socioeconomicfor example, lower income and educational level and higher rates of crime. Infertility is a hallmark of KS, but fertility seems also reduced in 47,XYY. Conclusion: Being born as a boy with an extra X or Y chromosome is associated with increased mortality and excess morbidity, partially expressed in a sex chromosome-specific pattern.Both syndromes continue to be greatly underdiagnosed, even thoughearly intervention may improve the overall outcome. Earlier diagnosis to initiate timely counseling and treatment should be emphasized.
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