Abstract
47, XXY, also known as Klinefelter’s syndrome, is a chromosomal aneuploidy syndrome that can present with a wide array of symptoms that can affect both physical and mental health.This study examines individuals in the emerging adulthood period, ages 18-29, who have 47, XXY. Participants were asked to complete an online survey that focused on their diagnostic experience, relationships, support systems and advice that they have for others. Thirty-six individuals participated and their responses were analyzed using SPSS. Participants were generally satisfied with their diagnosis experience, though for those with recommendations on improving the experience, they suggested being told earlier, being treated with compassion surrounding the diagnosis, and being told by an informed person or physician. Many participants reported that they felt supported and understood by their doctors, but still wished they were better informed. When asked about the personal impact of their diagnosis, participants felt that the diagnosis played a large role in their identity (69.5%) and most felt that it had a negative impact on their lives (38.8%). However, when asked about relationships, a majority reported that disclosing their diagnosis to romantic partners and friends had a minimal impact on their relationships. Our results show that, there was a strong desire for participants to feel understood and be treated with acceptance both from their health care providers as well as from their friends and romantic relationships. These results suggest that while individuals with 47, XXY may feel supported, they desire more personalized care to cover the broad spectrum of clinical characteristics ranging from physical features to mental health challenges that may require outside referrals. Future research could further explore the experience of disclosure to a friend or romantic partner to better understand the decision, challenges, and benefits to help future individuals in a similar situation.