The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

Genetics in Medicine

Volumn 13, Issue 7, 2011, Pages 632-642

  Herlihy, Amy S ^a,b,c,d,f   McLachlan, Robert I ^b,c,d   Gillam, Lynn ^e,f   Cock, Megan L ^c   Collins, Veronica ^a,c   Halliday, Jane L ^a,e  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c Andrology Australia   (Australia)

^d HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

diagnosis; Klinefelter syndrome; population based genetic screening; psychosocial; quality of life; XXY

Indexed keywords

ADULT; AGE; AGED; ARTICLE; AUSTRALIA; BODY IMAGE; DISEASE SEVERITY; EMPLOYMENT STATUS; HEALTH SURVEY; HUMAN; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; QUALITY OF LIFE; SCORING SYSTEM; SELF ESTEEM; SOCIAL SUPPORT; TREATMENT OUTCOME; WELLBEING;

ADULT; AGED; AUSTRALIA; HEALTH SURVEYS; HUMANS; KLINEFELTER SYNDROME; LINEAR MODELS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; QUALITY OF LIFE; QUESTIONNAIRES; SOCIAL CLASS; YOUNG ADULT;

EID: 79960842468     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3182136d19     Document Type: Article

References (54)

1. Klinefelter H, Reifenstein E, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without a-leydigsm and increased secretion of follicle-stimulating hormone. J Clin Endocr Metab 1942;2:8.
2. Simpson JL, De La Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med 2003;5:460-468. (Pubitemid 37483416)
3. Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 1985;19:82-86. (Pubitemid 15187480)
4. Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med 1998;158: 1309-1314. (Pubitemid 28287523)
5. Ratcliffe S. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999;80:192-195. (Pubitemid 29119739)
6. Rovet J, Netley C, Keenan M, Bailey J, Stewart D. The psychoeducational profile of boys with Klinefelter syndrome. J Learn Disabil 1996;29:180-196. (Pubitemid 126704804)
7. Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol 2010;52:119-129.
8. Samango-Sprouse C. Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation. Semin Reprod Med 2001;19:193-202. (Pubitemid 32847034)
9. Herlihy AS, Halliday JL, Cock ML, McLachlan RI. The prevalence and diagnosis rates of Klinefelter syndrome: An Australian comparison. Med J Aust 2011;191:24-28.
10. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocr Metab 2003; 88:622-626. (Pubitemid 36207801)
11. Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling [see comment]. Prenat Diagn 1997;17:363-368. (Pubitemid 27192961)
12. Nielsen J, Pelsen B, Sorensen K. Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 1988;33:262-269.
13. Bishop DV, Jacobs PA, Lachlan K, et al. Autism, language and communication in children with sex chromosome trisomies [published online ahead of print July 23, 2010]. Arch Dis Child doi: 10.1136/adc.2009.179747.
14. Fales CL, Knowlton BJ, Holyoak KJ, Geschwind DH, Swerdloff RS, Gaw Gonzalo I. Working memory and relational reasoning in Klinefelter syndrome. J Int Neuropsychol Soc 2003;9:839-846. (Pubitemid 37139013)
15. van Rijn S, Swaab H, Aleman A, Kahn RS. X Chromosomal effects on social cognitive processing and emotion regulation: a study with Klinefelter men (47,XXY). Schizophr Res 2006;84:194-203. (Pubitemid 44255605)
16. Van Rijn S, Aleman A, De Sonneville L, Swaab H. Cognitive mechanisms underlying disorganization of thought in a genetic syndrome (47,XXY). Schizophr Res 2009;112:91-98.
17. Verri A, Cremante A, Clerici F, Destefani V, Radicioni A. Klinefelter's syndrome and psychoneurologic function. Mol Hum Reprod 2010;16:425-433.
18. Samango-Sprouse C, Rogol A. XXY: the hidden disability and a prototype for an infantile presentation of developmental dyspraxia (IDD). Infants Young Child 2002;15:11-18.
19. Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics 1988;81:795-806.
20. Bancroft J, Axworthy D, Ratcliffe S. The personality and psycho-sexual development of boys with 47 XXY chromosome constitution. J Child Psychol Psychiatry 1982;23:169-180. (Pubitemid 12181071)
21. Mandoki MW, Sumner GS, Hoffman RP, Riconda DL. A review of Klinefelter's syndrome in children and adolescents. J Am Acad Child Adolesc Psychiatry 1991;30:167-172.
22. Sorensen K. Physical and mental development of adolescent males with Klinefelter syndrome. Horm Res 1992;37(suppl 3):55-61.
23. Ross JL, Roeltgen DP, Stefanatos G, et al. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A 2008;146A:708-719. (Pubitemid 351354146)
24. Simm PJ, Zacharin MR. The psychosocial impact of Klinefelter syndrome-a 10 year review. J Pediatr Endocrinol Metab 2006;19:499-505. (Pubitemid 43772793)
25. Maggi M, Schulman C, Quinton R, Langham S, Uhl-Hochgraeber K. The burden of testosterone deficiency syndrome in adult men: economic and quality-of-life impact. J Sex Med 2007;4:1056-1069. (Pubitemid 47079639)
26. Bender BG, Linden MG, Harmon RJ. Life adaptation in 35 adults with sex chromosome abnormalities. Genet Med 2001;3:187-191.
27. Geschwind DH, Dykens E. Neurobehavioral and Psychosocial issues in Klinefelter syndrome. Learn Disabil Res Pract Vol 2004;19:166-173. (Pubitemid 38847173)
28. Nielsen J, Sorensen K. The importance of early diagnosis of Klinefelter's syndrome. In: Bandman H, Breit R, editors. Klinefelter's syndrome. Berlin: Springer-Verlag, 1984:170-187.
29. Mandoki MW, Sumner GS. Klinefelter syndrome: the need for early identification and treatment. Clin Pediatr 1991;30:161-164.
30. Herlihy AS, Halliday J, McLachlan RI, Cock M, Gillam L. Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example. J Community Genet 2010;1:6.
31. International Wellbeing Group. Personal Wellbeing Index, 2005. Available at: http://www.deakin.edu.au/research/acqol/instruments/wellbeing-index.htm. Accessed July 20, 2010.
32. Cummins RA, Eckersley R, Pallant J, van Vugt J, Misajon R. Developing a national index of subjective wellbeing: the Australian Unity Wellbeing Index. Soc Indicators Res 2003;64:31.
33. Cummins RA, Woerner J, Tomyn A, Gibson A, Knapp T. The wellbeing of Australians, 2006. Available at: http://www.acqol.deakin.edu.au. Accessed July 20, 2010.
34. Cummins RA, Collard J, Woerner J, Weinberg M, Lorbergs M, Perera C. Australian Unity Wellbeing Index Survey 22: report 22.0. Melbourne: Deakin University, 2009.
35. Brown TA, Cash TF, Mikulka PJ. Attitudinal body-image assessment: factor analysis of the body-self relations questionnaire. J Pers Assess 1990;55:135-144. (Pubitemid 20296553)
36. Cash TF. The multidimensional body-self relations questionnaire user's manual. Norfolk: Old Dominion University, 2000.
37. Rosenberg M. Society and the adolescent self-image. Princeton, NJ: Princeton University Press, 1965.
38. Schmitt DP, Allik J. Simultaneous administration of the Rosenberg Self-Esteem Scale in 53 nations: exploring the universal and culture-specific features of global self-esteem. J Personality Social Psychol 2005;89:623-642. (Pubitemid 41677542)
39. Kessler RC, Andrews G, Colpe LJ, et al. Short screening scales to monitor population prevalences and trends in non-specific psychological distress. Psychol Med 2002;32:959-976.
40. Australian Bureau of Statistics. National Health Survey: summary of results 2007-2008 (4364.0). Canberra: Australian Bureau of Statistics, 2009.
41. Australian Bureau of Statistics. National Health Survey: users' guide 2007-2008 (4363.0). Canberra: Australian Bureau of Statistics, 2009.
42. Pierce GR, Sarason IG, Sarason BR, Solky-Butzel JA, Nagle LC. Assessing the quality of personal relationships. J Soc Personal Relationships 1997;14: 339-356.
43. Vassallo S, Smart D, Price-Robertson R. The roles that parents play in the lives of their young adult children. Fam Matters 2009:82:8-14.
44. Stern BB, Barak B, Gould SJ. Sexual identity scale: a new self-assessment measure. Sex Roles 1987;17:503-519.
45. Radicioni AF, De Marco E, Gianfrilli D, et al. Strategies and advantages of early diagnosis in Klinefelter's syndrome. Mol Hum Reprod 2010;16:434-440.
46. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007;4:192-204. (Pubitemid 46567152)
47. Williams JM, Dunlop LC. Pubertal timing and self-reported delinquency among male adolescents. J Adolesc 1999;22:157-171. (Pubitemid 29097195)
48. Aksglaede L, Andersson AM, Jorgensen N, et al. Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol 2007;66:276-281. (Pubitemid 46096149)
49. Schiavi RC, Theilgaard A, Owen DR, White D. Sex chromosome anomalies, hormones, and sexuality. Arch Gen Psychiatry 1988;45:19-24. (Pubitemid 18018565)
50. Borelli JB, Bender BG, Puck MH, Salbenblatt JA, Robinson A. The meaning of early knowledge of a child's infertility in families with 47,XXY and 45,X children. Child Psychiatry Hum Dev 1984;14:215-222.
51. Sell RL, Becker JB. Sexual orientation data collection and progress toward Healthy People 2010. Am J Public Health 2001;91:876-882. (Pubitemid 32496725)
52. McConaghy N, Hadzi-Pavlovic D, Stevens C, Manicavasagar V, Buhrich N, Vollmer-Conna U. Fraternal birth order and ratio of heterosexual/homosexual feelings in women and men. J Homosex 2006;51:161-174. (Pubitemid 44863675)
53. Bailey DB Jr, Skinner D, Warren SF. Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health 2005;95: 1889-1893. (Pubitemid 41572356)
54. Gallo AM, Knafl KA, Angst DB. Information management in families who have a child with a genetic condition. J Pediatr Nurs 2009;24:194-204.