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Exploring the experience of individuals with Klinefelter Syndrome (XXY; KS) and parents of children with KS: a qualitative study investigating the journey through diagnosis and access to support in rural areas in Australia
Klinefelter syndrome is an underdiagnosed sex chromosomal aneuploidy (one or more missing or extra chromosomes) (in the case of Klinefelter syndrome - 47, XXY and associated variants), affects about one in 550 Australian men, however only half of those affected are ever diagnosed.
Prior to 2012 and the introduction of Non-invasive Prenatal screening - KS was not diagnosed until puberty or adulthood, and in many cases, it was never be diagnosed. There is a notable lack of studies focusing on the regional experiences of KS diagnosis during pregnancy and beyond, and the available support services.
Maddison Symons (4th year medical student)
Dr Catherine Keniry, CSU SRM
Dr Himanshu Goel, Clinical Geneticist Hunter New England Genetics Service
Dr Komal Vora, Paediatric Endocrinologist, John Hunter Children's Hospital
Mr Bruce Hopper, Senior Genetic Counsellor, Forster Genetics
This research project aims to fill this gap by investigating the experiences of individuals and families diagnosed with KS in rural / regional areas, the adequacy of support services, and the implications for healthcare delivery.
By understanding the unique challenges faced by these populations, the project seeks to inform best practices in genetic counselling and improve the services available for those in rural/regional areas impacted by a diagnosis of KS.
We are seeking parents of children diagnosed with Klinefelter syndrome, or individuals aged over 18 diagnosed with Klinefelter syndrome.
An online interview (approx. 40-60mins) to discuss your journey, challenges, and support systems related to Kleinfelter Syndrome.
The information provided will remain confidential and consent can be withdrawn at anytime. Please note we will not require any information that identifies your workplace.
For more information and to continue with your interest in participating in this project, please click the box below for the participant information sheet. This will provide a link at the end for you to register your interest.