Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support

Abstract

Klinefelter syndrome (KS; 47, XXY) is the most common chromosomal aneuploidy, affecting ~1:600 male births. Due to recent technological advances, KS is diagnosed more often in young individuals. This emerging population of adolescent and young adult (AYA) patients with KS seeking care makes it increasingly important to understand the unique experiences and perspectives of these individuals. This qualitative study explored (1) the psychosocial well-being of AYA with KS and (2) resources and support systems AYA with KS utilize to cope with challenges related to their diagnosis. This study included 13 participants ages 14–23 (M age 16 years) who completed semi-structured individual interviews. Reflexive thematic analysis was used. Three themes were generated concerning psychosocial well-being, resources, and support systems of AYA with KS: (1) “I'm a little different”—Rejecting stigmatization and integrating a diagnosis of KS into one's identity, (2) “Let it out”—Lessons learned when disclosing one's diagnosis of KS to others, and (3) “They accept me for who I am”—The building blocks of a support system. Participants largely viewed KS as part of themselves but not their whole identity and expressed not wanting to be labeled by others as “disabled.” Participants voiced that disclosing KS to trusted others often provides a sense of relief, and that it is important to have a varied support system that includes individuals like parents, friends, and romantic partners. This study improves the understanding of what support resources AYA with KS are using, or not using, and provides insights into their psychosocial well-being, which in turn may help providers implement effective clinical interventions and promote better psychosocial outcomes for this growing patient population.