PURPOSE: There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact. This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes. METHODS: Men from across Australia, diagnosed with KS at different ages, were recruited through multiple sources. Participants completed a questionnaire assessing subjective well-being, body image, self-esteem, mental health, social support, and general health. RESULTS: Eighty-seven individuals self-completed the questionnaire. All outcomes were much poorer for the study population than for the general male population. Individuals diagnosed later in life reported many of the same symptoms as those diagnosed at younger ages. Employment status, social support, and phenotypic features were the strongest predictors of psychosocial outcomes. Age at diagnosis was not as influential because it did not correlate with phenotypic severity score. CONCLUSION: This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.
PURPOSE: There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact. This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes. METHODS: Men from across Australia, diagnosed with KS at different ages, were recruited through multiple sources. Participants completed a questionnaire assessing subjective well-being, body image, self-esteem, mental health, social support, and general health. RESULTS: Eighty-seven individuals self-completed the questionnaire. All outcomes were much poorer for the study population than for the general male population. Individuals diagnosed later in life reported many of the same symptoms as those diagnosed at younger ages. Employment status, social support, and phenotypic features were the strongest predictors of psychosocial outcomes. Age at diagnosis was not as influential because it did not correlate with phenotypic severity score. CONCLUSION: This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.
Authors: Simon Chang; Anne Skakkebaek; Shanlee M Davis; Claus H Gravholt Journal: Am J Med Genet C Semin Med Genet Date: 2020-06-04 Impact factor: 3.908
Authors: Marcia N Brandenburg-Goddard; Sophie van Rijn; Serge A R B Rombouts; Ilya M Veer; Hanna Swaab Journal: Soc Cogn Affect Neurosci Date: 2014-01-05 Impact factor: 3.436
Authors: Lara C Foland-Ross; Maureen Gil; Sharon Bade Shrestha; Lindsay C Chromik; David Hong; Allan L Reiss Journal: Psychiatry Res Neuroimaging Date: 2021-05-04 Impact factor: 2.493
Authors: David E Godler; Yoshimi Inaba; Charles E Schwartz; Quang M Bui; Elva Z Shi; Xin Li; Amy S Herlihy; Cindy Skinner; Randi J Hagerman; David Francis; David J Amor; Sylvia A Metcalfe; John L Hopper; Howard R Slater Journal: Expert Rev Mol Med Date: 2015-07-01 Impact factor: 5.600