Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review
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.
Top-30
Journals
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Proceedings of the National Academy of Sciences of the United States of America
1 publication, 7.14%
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Journal of Clinical Endocrinology and Metabolism
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Journal of Clinical Medicine
1 publication, 7.14%
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International Journal of Molecular Sciences
1 publication, 7.14%
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Orphanet Journal of Rare Diseases
1 publication, 7.14%
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Publishers
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Springer Nature
3 publications, 21.43%
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Elsevier
2 publications, 14.29%
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MDPI
2 publications, 14.29%
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Cold Spring Harbor Laboratory
1 publication, 7.14%
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American Medical Association (AMA)
1 publication, 7.14%
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Wiley
1 publication, 7.14%
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Proceedings of the National Academy of Sciences (PNAS)
1 publication, 7.14%
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The Endocrine Society
1 publication, 7.14%
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Frontiers Media S.A.
1 publication, 7.14%
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Georg Thieme Verlag KG
1 publication, 7.14%
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- We do not take into account publications without a DOI.
- Statistics recalculated weekly.