Exploring preferences and support needs for disclosing 47, XXY status: A qualitative study of adults with XXY.

Abstract

There are minimal guidelines regarding the disclosure of XXY, otherwise called Klinefelter syndrome, in healthcare or within the family. The increased use of cell-free DNA (cfDNA) to screen for fetal aneuploidy and sex chromosomes bolsters the importance of providing genetic counselors, other healthcare professionals (HCPs), and parents with XXY-led disclosure information. The aim of this qualitative study was to discern the preferences of adults of XXY in the disclosure of XXY status across the lifespan to best inform the clinical and social aspects of their care. Fifteen semi-structured interviews were conducted with adults with XXY to gain their perspective on healthcare and support needs, the impact their care has had on their perception and acceptance of XXY, as well as their disclosure preferences across age groups. Interviews were coded and analyzed using reflexive thematic analysis through a social constructivist lens, from which four themes were generated: (1) lack of support within the healthcare system affects quality of care; (2) stigma and shame impacts XXY individuals' decisions to disclose information to others; (3) communication of XXY genetic results to children should be thoughtful and age-appropriate; and (4) attention to psychosocial needs is integral to comprehensive care. Novel findings of this study, which include the detrimental impacts of negative disclosure experiences on relationships with HCPs and self-identity, underscore specific clinical and social support needs for individuals with XXY. This study highlights the need for specialized support across one's lifespan, particularly within interdisciplinary clinics staffed by HCPs knowledgeable about the overall health of individuals with XXY. Participants stress the importance of empathetic delivery of XXY status and discussions on sex and gender to mitigate shame and stigma. Advocating for ongoing support services, including referrals to specialists and mental health resources, participants also endorse a personalized approach to childhood disclosure by parents, or in collaboration with HCPs, aiming to preserve trust, empower the child, and consider their maturity level. This study emphasizes the importance of providing tailored support to individuals with XXY, prioritizing informed decision-making, emotional well-being, and holistic care.