Diagnosis and mortality in 47,XYY persons: a registry study

Abstract

Background: Sex chromosomal abnormalities are relatively common, yet many aspects of these syndromes remain unexplored. For instance epidemiological data in 47,XYY persons are still limited.

Methods: Using a national Danish registry, we identified 208 persons with 47,XYY 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.

Results: 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 (47,XYY 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.

Conclusion: We here present national epidemiological data regarding 47,XYY syndrome, including prevalence and mortality data, showing a significantly delay to diagnosis, reduced life expectancy and an increased total and cause specific mortality.

Figure 1

Age at diagnosis in all males diagnosed in Denmark with 47,XYY during 1965 to 2008.

Figure 2

Age at diagnosis in all males diagnosed in Denmark with 47,XYY during 1965 to 2008.

Figure 3

Prevalence rate of 47,XYY males in Denmark during 1970 to 2008. The number of diagnosed 47,XYY males in Denmark during 1970-2008 per 100,000 liveborn boys per year of diagnosis.

Figure 4

Kaplan-Meier survival graphs in 47,XYY compared to an age-matched male background population. Time at risk was calculated from date of birth until date of censoring (see Materials and Methods for details). Solid line controls, and thin line persons. Survival is significantly lower in 47,XYY persons, log-rank p < 0.0001. Number of persons and controls are indicated below the figure.

Figure 5

Hazard ratios of total and cause specific mortality in 47,XYY compared to age-matched males. Time at risk was calculated from date of diagnosis until date of censoring (see Materials and Methods for details). The causes are divided in nineteen chapters according to the International Classification of Diseases. Only informative chapters are included.