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Erschienen in: Journal of Genetic Counseling 4/2017

10.11.2016 | Original Research

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

verfasst von: Amy Turriff, Ellen Macnamara, Howard P. Levy, Barbara Biesecker

Erschienen in: Journal of Genetic Counseling | Ausgabe 4/2017

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Abstract

Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals aged 14 to 75 years with self-reported XXY were recruited from online support networks to complete a web-based survey that included open-ended questions. Open-ended responses were coded and analyzed thematically (n = 169 to 210 for each open-ended question). Over half of respondents to the open-ended questions reported challenges in finding health care providers who are knowledgeable about XXY, with many describing an extensive diagnostic odyssey and relief when receiving a diagnosis. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.
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Metadaten
Titel
The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults
verfasst von
Amy Turriff
Ellen Macnamara
Howard P. Levy
Barbara Biesecker
Publikationsdatum
10.11.2016
Verlag
Springer US
Erschienen in
Journal of Genetic Counseling / Ausgabe 4/2017
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-016-0041-z

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