Postnatal screening for Klinefelter syndrome: Is there a rationale?

Acta Paediatrica, International Journal of Paediatrics

Volumn 100, Issue 6, 2011, Pages 923-933

  Herlihy, Amy S ^a,b,c,d   Gillam, Lynn ^a,e   Halliday, Jane L ^a,e   McLachlan, Robert I ^b,c,d  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c Andrology Australia   (Australia)

^d HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Genetic screening; Genetic testing; Klinefelter syndrome; XXY

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

ANDROGEN DEFICIENCY; BODY COMPOSITION; BONE DENSITY; CHILDHOOD; COMORBIDITY; GENETIC SCREENING; HUMAN; INFANCY; KLINEFELTER SYNDROME; MALE INFERTILITY; MASS SCREENING; NEWBORN SCREENING; PERINATAL PERIOD; PILOT STUDY; PRIORITY JOURNAL; PUBERTY; REPRODUCTION; REVIEW; SOCIAL PSYCHOLOGY; SPEECH DISORDER;

AGE FACTORS; CHILD; CHILD, PRESCHOOL; EVIDENCE-BASED MEDICINE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; KLINEFELTER SYNDROME; MALE; MASS SCREENING; NEONATAL SCREENING; RISK ASSESSMENT;

EID: 79955497867     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2011.02151.x     Document Type: Review

References (61)

1. Simpson JL, De La Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM Jr, et al., Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med 2003; 5: 460-8. (Pubitemid 37483416)
2. Bojesen A, Gravholt CH,. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4: 192-204. (Pubitemid 46567152)
3. Bojesen A, Juul S, Gravholt CH,. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-6. (Pubitemid 36207801)
4. Morris JK, Alberman E, Scott C, Jacobs P,. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008; 16: 163-70.
5. Herlihy AS, Halliday JL, Cock ML, McLachlan RI,. The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust 2011; 1: 24-8.
6. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E,. Klinefelter's syndrome. Lancet 2004; 364: 273-83. (Pubitemid 38942818)
7. Handelsman DJ, Liu PY,. Editorial: Klinefelter's syndrome-a microcosm of male reproductive health. J Clin Endocrinol Metab 2006; 91: 1220-2.
8. 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: 1056-69. (Pubitemid 47079639)
9. Godard B, ten Kate L, Evers-Kiebooms G, Ayme S,. Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 2003; 11: S49-87. (Pubitemid 38263569)
10. Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E,. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene. Mol Hum Reprod 2007; 13: 745-50. (Pubitemid 47553530)
11. Bailey DB Jr, Skinner D, Davis AM, Whitmarsh I, Powell C,. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 2008; 121: e693-704.
12. Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al., Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009; 85: 503-14.
13. 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 Comm Genet 2010; 1: 6.
14. Wilson JMG, Jungner G,. Principles and practice of screening for disease. Geneva: World Health Organisation, 1968.
15. Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ,. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics 2010; 13: 106-15.
16. Ross LF,. Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy. Am J Med Genet 2006; 140A: 914-22.
17. Haddow J, Palomaki G,. ACCE: a model process for evaluating data on emerging genetic tests., Khoury M, Little J, Burke W, editors. New York: Oxford University Press, 2003.
18. Kroese M, Zimmern RL, Farndon P, Stewart F, Whittaker J,. How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network. Eur J Hum Genet 2007; 15: 917-21. (Pubitemid 47308466)
19. Jaques AM, Collins VR, Pitt J, Halliday JL,. Coverage of the Victorian newborn screening programme in 2003: a retrospective population study. J Paediatr Child Health 2008; 44: 498-503.
20. Main KM, Schmidt IM, Skakkebaek NE,. A possible role for reproductive hormones in newborn boys: progressive hypogonadism without the postnatal testosterone peak. J Clin Endocrinol Metab 2000; 85: 4905-7. (Pubitemid 32157684)
21. Ross JL, Samango-Sprouse C, Lahlou N, Kowal K, Elder FF, Zinn A,. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome. Horm Res 2005; 64: 39-45. (Pubitemid 41207077)
22. Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, et al., Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 2008; 152: 716-22.
23. Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, et al., Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 2004; 53: 1-36.
24. Bailey DB Jr, Skinner D, Warren SF,. Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health 2005; 95: 1889-93. (Pubitemid 41572356)
25. Whitmarsh I, Davis AM, Skinner D, Bailey DB Jr,. A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Soc Sci Med 2007; 65: 1082-93. (Pubitemid 47247991)
26. 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: 11-8.
27. Robinson A, Bender BG, Linden MG, Salbenblatt JA,. Sex chromosome aneuploidy: the Denver Prospective Study. Birth Defects Orig Artic Ser 1990; 26: 59-115.
28. 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: 119-29.
29. 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.
30. Ross LF, Moon MR,. Ethical issues in genetic testing of children. Arch Pediatr Adolesc Med 2000; 154: 873-9.
31. Guyer B, Ma S, Grason H, Frick KD, Perry DF, Sharkey A, et al., Early childhood health promotion and its life course health consequences. Acad Pediatr 2009; 9: 142-9.
32. Aksglaede L, Molgaard C, Skakkebaek NE, Juul A,. Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome. Arch Dis Child 2008; 93: 30-4.
33. Misigoj-Durakovic M, Durakovic Z,. The early prevention of metabolic syndrome by physical exercise. Coll Antropol 2009; 33: 759-64.
34. 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)
35. Geschwind DH, Dykens E,. Neurobehavioral and psychosocial issues in Klinefelter Syndrome. Learn Disabil Res Pract 2004; 19: 166-73. (Pubitemid 38847173)
36. van Rijn S, Aleman A, Swaab H, Krijn T, Vingerhoets G, Kahn R,. What it is said versus how it is said: comprehension of affective prosody in men with Klinefelter (47,XXY) syndrome. J Int Neuropsychol Soc 2007; 13: 1065-70. (Pubitemid 47617557)
37. Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, et al., Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 2010; Epub ahead of print.
38. Bender BG, Linden MG, Harmon RJ,. Life adaptation in 35 adults with sex chromosome abnormalities. Genet Med 2001; 3: 187-91.
39. Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K,. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet 2009; 17: 711-9.
40. Wade CH, Wilfond BS, McBride CM,. Effects of genetic risk information on children's psychosocial wellbeing: a systematic review of the literature. Genet Med 2010; 12: 317-26.
41. Van Cleave J, Davis MM,. Bullying and peer victimization among children with special health care needs. Pediatrics 2006; 118: e1212-9. (Pubitemid 46393772)
42. Smyth CM, Bremner WJ,. Klinefelter syndrome. Arch Intern Med 1998; 158: 1309-14. (Pubitemid 28287523)
43. 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: 82-6. (Pubitemid 15187480)
44. Williams JM, Dunlop LC,. Pubertal timing and self-reported delinquency among male adolescents. J Adolesc 1999; 22: 157-71. (Pubitemid 29097195)
45. Aksglaede L, Andersson AM, Jorgensen N, Jensen TK, Carlsen E, McLachlan RI, et al., Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol 2007; 66: 276-81. (Pubitemid 46096149)
46. Nielsen J, Pelsen B, Sorensen K,. Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 1988; 33: 262-9.
47. Bojesen A, Juul S, Birkebaek NH, Gravholt CH,. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006; 91: 1254-60.
48. Seo JT, Lee JS, Oh TH, Joo KJ,. The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndrome. BJU Int 2007; 99: 141-6. (Pubitemid 44915636)
49. van den Bergh JP, Hermus AR, Spruyt AI, Sweep CG, Corstens FH, Smals AG,. Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution. Osteoporos Int 2001; 12: 55-62. (Pubitemid 32233659)
50. Kubler A, Schulz G, Cordes U, Beyer J, Krause U,. The influence of testosterone substitution on bone mineral density in patients with Klinefelter's syndrome. Exp Clin Endocrinol 1992; 100: 129-32. (Pubitemid 23135781)
51. Bojesen A, Host C, Gravholt CH,. Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition. Mol Hum Reprod 2010; 16: 396-401.
52. Di Mambro A, Ferlin A, De Toni L, Selice R, Caretta N, Foresta C,. Endothelial progenitor cells as a new cardiovascular risk factor in Klinefelter's syndrome. Mol Hum Reprod 2010; 16: 411-7.
53. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA,. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. J Natl Cancer Inst 2005; 97: 1204-10. (Pubitemid 41258226)
54. Hasle H, Mellemgaard A, Nielsen J, Hansen J,. Cancer incidence in men with Klinefelter syndrome. Br J Cancer 1995; 71: 416-20.
55. Aksglaede L, Wikstrom AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A,. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 2006; 12: 39-48. (Pubitemid 43013745)
56. Herlihy AS, McLachlan RI, Gillam L, Collins V, Cock ML, Halliday JL,. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet Med 2011.
57. Mezei G, Papp C, Toth-Pal E, Beke A, Papp Z,. Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Obstet Gynecol 2004; 104: 94-101. (Pubitemid 40458910)
58. Gillam L, Hewitt J, Warne G,. Ethical principles for the management of infants with disorders of sex development. Horm Res Paediatr 2010; 74: 412-18.
59. Reubinoff BE, Abeliovich D, Werner M, Schenker JG, Safran A, Lewin A,. A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod 1998; 13: 1887-92.
60. Fullerton G, Hamilton M, Maheshwari A,. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 2010; 25: 588-97.
61. Smith JF, Walsh TJ, Shindel AW, Turek PJ, Wing H, Pasch L, et al., Sexual, marital, and social impact of a man's perceived infertility diagnosis. J Sex Med 2009; 6: 2505-15.