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

  • Original Research
  • Published:
Journal of Genetic Counseling

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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Acknowledgments

This research was funded by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. We thank the adolescents and adults who participated in this research and the XXY support networks for facilitating recruitment.

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Authors and Affiliations

  1. Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive MSC 1860, Building 10, Room 10N226, Bethesda, MD, 20892, USA

    Amy Turriff

  2. Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Ellen Macnamara

  3. Department of Medicine and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Howard P. Levy

  4. Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Barbara Biesecker

Authors
  1. Amy Turriff
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  2. Ellen Macnamara
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  3. Howard P. Levy
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  4. Barbara Biesecker
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Correspondence to Amy Turriff.

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Conflict of Interest

Amy Turriff, Ellen Macnamara, Howard Levy, and Barbara Biesecker declare that they have no conflict of interest.

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This manuscript is submitted solely to this journal, has not been published elsewhere, and is not currently under consideration for publication elsewhere.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Turriff, A., Macnamara, E., Levy, H.P. et al. The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults. J Genet Counsel 26, 728–737 (2017). https://doi.org/10.1007/s10897-016-0041-z

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  • DOI: https://doi.org/10.1007/s10897-016-0041-z

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