Living with an extra x chromosome

PHI researchers are finalising a national study looking at the personal impact on men who have a genetic condition caused by carrying an extra sex chromosome.

PhD student Amy Herlihy says the detailed study, of about 100 men, will provide an important patient perspective of men living with Klinefelter Syndrome, how it is diagnosed and treated.

"We really know very little about how Klinefelter Syndrome affects quality of life in these men. This has been a chance for those who have been diagnosed to share their thoughts and experiences of living with the condition," she says.

Klinefelter Syndrome, where men have an extra X chromosome affects thousands of Australian men, current estimates suggest some 15,000.

The most common features are infertility, small testicles and low testosterone, which can cause low energy, depression, reduced libido and lack of concentration. Other features can include breast development and learning and social difficulties. Whilst treatments are available for many of these symptoms, the majority of men with Klinefelter Syndrome remain undiagnosed.

Up to seven in ten adult men with the condition may never get a diagnosis and do not realise they carry an extra sex chromosome.

Amy is now finalising the study which has included surveys and interviews with Klinefelter's men. She says that she was moved by the stories men shared during the research and that they provided very personal evidence of the benefits that improving diagnosis and treatment could bring. The findings will be used to develop better information and guidelines to support men diagnosed in the future, as well as their partners, families and friends.

It is expected that doctors and other health professionals will also have an interest in the study which has been a collaboration between PHI, Andrology Australia, Murdoch Childrens Research Institute and Monash University.