Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review

“…For AYAs, a diagnosis may bring clarity to prior learning or social struggles and diffuse feelings of failure, but it may also reinforce feelings of difference from peers [ 34 , 65 – 67 ]. Learning of a genetic diagnosis is often an identity-forming event; [ 65 , 66 ] some AYAs have noted difficulty developing trusting relationships with their providers and finding information on the lived experience of AYAs with SCM [ 67 ].…”

“…For AYAs, a diagnosis may bring clarity to prior learning or social struggles and diffuse feelings of failure, but it may also reinforce feelings of difference from peers [ 34 , 65 – 67 ]. Learning of a genetic diagnosis is often an identity-forming event; [ 65 , 66 ] some AYAs have noted difficulty developing trusting relationships with their providers and finding information on the lived experience of AYAs with SCM [ 67 ]. Adolescents and young adults may benefit from referrals to counseling or psychology given the direct implications on self-image, sexuality and romantic relationships, and future education and employment plans [ 67 ].…”

“…Learning of a genetic diagnosis is often an identity-forming event; [ 65 , 66 ] some AYAs have noted difficulty developing trusting relationships with their providers and finding information on the lived experience of AYAs with SCM [ 67 ]. Adolescents and young adults may benefit from referrals to counseling or psychology given the direct implications on self-image, sexuality and romantic relationships, and future education and employment plans [ 67 ]. The same survey of AYAs with Klinefelter syndrome found that nearly one-third stated that psychological challenges including depression, anxiety, low self-esteem, mood instability were of the greatest concern followed by reproductive health concerns [ 64 ].…”

“…The same survey of AYAs with Klinefelter syndrome found that nearly one-third stated that psychological challenges including depression, anxiety, low self-esteem, mood instability were of the greatest concern followed by reproductive health concerns [ 64 ]. Other worries of AYAs include how to communicate the diagnosis and its reproductive impact to partners or friends [ 61 ], managing side effects related to hormone replacement therapy and the transition to adult care [ 62 , 63 , 67 ].…”