Abstract
Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of adaptation is highly variable and complex and is mediated by external factors including diagnosis delivery and community support. Factors associated with adaptation include feeling understood and supported by healthcare providers; researching the condition; receiving hormone replacement therapy; and receiving support from a community of peers. As access to prenatal and pediatric genetic testing continues to expand, non-genetic pediatric providers are increasingly likely to interact with individuals with SCAs as part of their initial diagnostic odyssey or ongoing medical management. Understanding the diversity of lived experiences of AYAs with SCAs is helpful for healthcare providers to facilitate holistic care and provide meaningful support to patients.
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The data that support the finding of this study are available from the corresponding author upon reasonable request.
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Acknowledgements
We thank the Association for X and Y Chromosome Variations for their assistance in recruitment and the participants of this study for their time and for sharing their stories. Additionally, the members of the Stanford Center for Biomedical Ethics Writing Seminar provided valuable feedback on the earlier versions of this manuscript.
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This work was supported by Mayo Clinic’s Center for Individualized Medicine. This publication was supported by Grant Number UL1 TR002377 from the National Center for Advancing Translational Sciences (NCATS).
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KO, MA, and KR contributed to the study conception and design. NA and KE conducted the data analysis. All the authors contributed to the data interpretation and manuscript development. NA drafted the manuscript, and all the authors significantly contributed to the manuscript revision. All the authors read and approved the final manuscript.
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This study was reviewed and determined to be minimal risk by Mayo Clinic’s Institutional Review Board (#16-004740). The secondary analysis reported here was further reviewed and declared exempt by the Institutional Review Board of Stanford University (#58100). All the 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 its later amendments. This article does not contain any studies with animal subjects performed by the any of the authors.
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Ahlawat, N., Elliott, K., Ormond, K.E. et al. Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY. J Community Genet 15, 75–83 (2024). https://doi.org/10.1007/s12687-023-00682-8
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DOI: https://doi.org/10.1007/s12687-023-00682-8