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Perspectives of living with extra chromosome
Posted 13 August 2009
National study explores perspectives of men living with an extra sex chromosome
Melbourne researchers are conducting a national study looking at the personal impact on men who have a genetic condition caused by carrying an extra sex chromosome.
Research scientist Amy Herlihy at Andrology Australia, says the study is intended to build a patient perspective of men living with Klinefelter Syndrome, and how it is diagnosed and treated. "We really know very little about how Klinefelter Syndrome affects quality of life in these men. This is a chance for those who have been diagnosed at different ages in life to share their thoughts and experiences of living with the condition," she says.
Klinefelter Syndrome, where men have an extra X chromosome, may be affecting as many as 15,000 males across Australia.
The most common features of Klinefelter Syndrome 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. It is estimated that up to 7 in 10 adult men with the condition may never realise they carry an extra sex chromosome, even though they may go through life experiencing the associated difficulties.
The study involves Andrology Australia, the national organisation for men's health, The Murdoch Childrens Research Institute, Prince Henry's Institute(PHI) and Monash University, and aims to recruit around 150 men. Participation includes completing a written questionnaire and providing a saliva sample (by mail), with the option of participating in an interview.
The results from the study will be used to develop better information and guidelines to help men diagnosed in the future, as well as doctors and other health professionals, and friends, families and partners of those diagnosed.
Further Information
Men already diagnosed with Klinefelter Syndrome, who are interested in taking part in the study, can contact the Project Coordinator Amy Herlihy on 03 8341 6370 or email klinefeltersyndrome@gmail.com
For further general information about Klinefelter syndrome and other men's health issues contact Andrology Australia, 1300 303 878 or www.andrologyaustralia.org
Interviews are available with researchers, clinical specialists and men with Klinefelter Syndrome who have already participated in the study.