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Diagnosis and mortality in <it>47,XYY </it>persons: a registry study

By Gravholt Claus H, Juul Svend and Stochholm Kirstine


<p>Abstract</p> <p>Background</p> <p>Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in <it>47,XYY </it>persons are still limited.</p> <p>Methods</p> <p>Using a national Danish registry, we identified 208 persons with <it>47,XYY </it>or a compatible karyotype, whereof 36 were deceased; all were diagnosed from 1968 to 2008. For further analyses, we identified age matched controls from the male background population (n = 20,078) in Statistics Denmark. We report nationwide prevalence data, data regarding age at diagnosis, as well as total and cause specific mortality data in these persons.</p> <p>Results</p> <p>The average prevalence was 14.2 47,XYY persons per 100,000, which is reduced compared to the expected 98 per 100,000. Their median age at diagnosis was 17.1 years. We found a significantly decreased lifespan from 77.9 years (controls) to 67.5 years (<it>47,XYY </it>persons). Total mortality was significantly increased compared to controls, with a hazard ratio of 3.6 (2.6-5.1). Dividing the causes of deaths according to the International Classification of Diseases, we identified an increased hazard ratio in all informative chapters, with a significantly increased ratio in cancer, pulmonary, neurological and unspecified diseases, and trauma.</p> <p>Conclusion</p> <p>We here present national epidemiological data regarding <it>47,XYY </it>syndrome, including prevalence and mortality data, showing a significantly delay to diagnosis, reduced life expectancy and an increased total and cause specific mortality.</p

Topics: Therapeutics. Pharmacology, RM1-950, Medicine, R, DOAJ:Therapeutics, DOAJ:Medicine (General), DOAJ:Health Sciences, Internal medicine, RC31-1245, DOAJ:Internal medicine
Publisher: BioMed Central
Year: 2010
DOI identifier: 10.1186/1750-1172-5-15
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