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...
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| Format: | Article |
| Language: | English |
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Bioscientifica
2023-05-01
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| Series: | Endocrine Connections |
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| Online Access: | https://ec.bioscientifica.com/view/journals/ec/12/5/EC-23-0024.xml |
| _version_ | 1797835632799645696 |
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| author | Lukas Ochsner Ridder Agnethe Berglund Kirstine Stochholm Simon Chang Claus H Gravholt |
| author_facet | Lukas Ochsner Ridder Agnethe Berglund Kirstine Stochholm Simon Chang Claus H Gravholt |
| author_sort | Lukas Ochsner Ridder |
| collection | DOAJ |
| description | 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 highli ghts similarities and differences.
Methods: Relevant literature was identified through PubMed with the follo wing 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 m ales, 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 virtuall y every organ system. Early diagnosis seems to predict a lesser comorbidity burden. N eurocognitive deficits as well as social and behavioral problems are commonly described. Both syndromes are associated with poor socioeconomic for example, lower income an d 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 associat ed with increased mortality and excess morbidity, partially expressed in a sex chromosome-specific pattern. Both syndromes continue to be greatly underdia gnosed, even though early intervention may improve the overall outcome. Earlier diagnosis to initiate timely counseling and treatment should be emphasized. |
| first_indexed | 2024-04-09T14:55:45Z |
| format | Article |
| id | doaj.art-c4c445c1f0684e1f917e3b462dbbc0f8 |
| institution | Directory Open Access Journal |
| issn | 2049-3614 |
| language | English |
| last_indexed | 2024-04-09T14:55:45Z |
| publishDate | 2023-05-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-c4c445c1f0684e1f917e3b462dbbc0f82023-05-02T06:45:17ZengBioscientificaEndocrine Connections2049-36142023-05-01125113https://doi.org/10.1530/EC-23-0024Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative reviewLukas Ochsner Ridder0Agnethe Berglund1Kirstine Stochholm2Simon Chang3Claus H Gravholt4Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Genetics and Clinical Medicine, Aarhus University Hospital, Aarhus, DenmarkDepartment of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, DenmarkDepartment of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark; Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark Department of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Unit for Thrombosis Research, Hospital of South West Jutland and University of Southern Denmark, Esbjerg, Denmark 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 highli ghts similarities and differences. Methods: Relevant literature was identified through PubMed with the follo wing 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 m ales, 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 virtuall y every organ system. Early diagnosis seems to predict a lesser comorbidity burden. N eurocognitive deficits as well as social and behavioral problems are commonly described. Both syndromes are associated with poor socioeconomic for example, lower income an d 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 associat ed with increased mortality and excess morbidity, partially expressed in a sex chromosome-specific pattern. Both syndromes continue to be greatly underdia gnosed, even though early intervention may improve the overall outcome. Earlier diagnosis to initiate timely counseling and treatment should be emphasized.https://ec.bioscientifica.com/view/journals/ec/12/5/EC-23-0024.xmlklinefelter syndromejacobs syndrome47xyymorbiditymortality |
| spellingShingle | Lukas Ochsner Ridder Agnethe Berglund Kirstine Stochholm Simon Chang Claus H Gravholt Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review Endocrine Connections klinefelter syndrome jacobs syndrome 47 xyy morbidity mortality |
| title | Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review |
| title_full | Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review |
| title_fullStr | Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review |
| title_full_unstemmed | Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review |
| title_short | Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review |
| title_sort | morbidity mortality and socioeconomics in klinefelter syndrome and 47 xyy syndrome a comparative review |
| topic | klinefelter syndrome jacobs syndrome 47 xyy morbidity mortality |
| url | https://ec.bioscientifica.com/view/journals/ec/12/5/EC-23-0024.xml |
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