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Morbidity and mortality in Klinefelter syndrome (47,XXY)

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Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosome disorder in man and is a relatively common cause of male infertility and hypogonadism. The syndrome has been known since 1942, and many reports of different diseases associated with KS have been reported since that, but a more systematic knowledge about the long-term outcome was not described until the last decade, where nation-wide epidemiological studies were reported from Britain and Denmark. We here review the epidemiological data from two cohorts of patients with KS in Denmark and Britain, showing a significant increase in both mortality and morbidity from a variety of different causes. Mortality was increased by 50% (SMR 1.5 or HR 1.4) corresponding to a median loss of approximately 2 years. The risk of being admitted to hospital with any diagnosis was increased by 70%. The underlying reason for the poorer health in KS may be caused by interaction of genetic, hormonal and socio-economic factors. Conclusion: 

Both morbidity and mortality are significantly increased in Klinefelter syndrome with a 50% increase in mortality risk and a 70% increase in risk of being admitted to hospital.

Keywords: 47,XXY; Klinefelter syndrome; Morbidity; Mortality; Prevalence

Document Type: Research Article


Affiliations: 1: Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, Denmark 2: Department of Endocrinology & Internal Medicine and Medical Research Laboratories, Aarhus University Hospital, Aarhus Sygehus NBG, Aarhus C, Denmark

Publication date: June 1, 2011

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