Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome.

Mortality among males with 47,XYY is increased due to a host of conditions and diseases. Clinical studies have suggested a poorer educational level and social adaptation among 47,XYY persons. We wanted to study the socio-economic profile in 47,XYY persons and the impact on mortality. We conducted a register study using several Danish nationwide registries. 206 47,XYY men and 20,078 controls from the background population and 1,049 controls with Klinefelter syndrome were included. Information concerning marital status, fatherhood, education, income, and retirement were obtained. Compared to the background population, 47,XYY men had fewer partnerships, were less likely to become fathers, had lower income and educational level, and retired at an earlier age. The mortality among 47,XYY men was significantly increased with a hazard ratio (HR) of 3.6 (95% confidence interval: 2.6-5.1). Adjusting for marital and educational status reduced this HR to 2.7. Compared to Klinefelter syndrome, 47,XYY had significantly fewer partnerships, were more likely to become fathers, but had lower income. Mortality among 47,XYY men was increased compared with Klinefelter syndrome with a HR of 1.36. The results show a severely inferior outcome in all investigated socio-economic parameters compared to the background population and an affected profile compared with Klinefelter syndrome, even though the population in Denmark has equal and free access to health care and education. We conclude that 47,XYY is often associated with a poorer socio-economic profile, which partly explains the increased mortality.

Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study.

The mortality and cancer incidence risks among males with Y polysomy are unknown because there have been no large long-term cohort studies carried out of such men. We conducted a cohort study of 667 men diagnosed with the abnormality in Britain since 1959 to compare their mortality and cancer incidence rates with those of the general population. Sixty deaths occurred during follow-up to December 2005, twice the number expected from general population rates (standardised mortality ratio (SMR) = 2.0 (95% confidence interval (CI) 1.5-2.6)). Significantly raised mortality was observed for diseases of the nervous system (SMR = 7.0, 95% CI: 2.3-16.4), circulatory system (SMR = 2.1, 95% CI: 1.3-3.2), respiratory system (SMR = 4.0, 95% CI: 1.8-7.5), genitourinary system (SMR = 10.2, 95% CI: 1.2-36.9), and congenital anomalies (SMR = 11.9, 95% CI: 3.2-30.5). Four of the five nervous system deaths were from epilepsy, the risk of death from this condition being more than 20-fold raised. The rates of cancer incidence and mortality among these men was not significantly different from those in the general population. This study provides evidence that mortality rates from several specific causes are raised among men with Y polysomy. The use of these data in genetic counselling should be cautious particularly for cases of Y polysomy that are detected prenatally. Further investigations are required to confirm these findings and to elucidate the possible role of genes on the Y chromosome in the aetiology of these causes of death.