The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison

Amy S Herlihy, Jane L Halliday, Megan L Cock and Robert I McLachlan
Med J Aust 2011; 194 (1): 24-28.
  • Amy S Herlihy1,2,3,4
  • Jane L Halliday1,5
  • Megan L Cock2
  • Robert I McLachlan2,3,4

  • 1 Public Health Genetics, Murdoch Childrens Research Institute, Melbourne, VIC.
  • 2 Andrology Australia, Melbourne, VIC.
  • 3 Department of Obstetrics and Gynaecology, Monash University, Melbourne, VIC.
  • 4 Clinical Andrology, Prince Henry’s Institute of Medical Research, Melbourne, VIC.
  • 5 Department of Paediatrics, University of Melbourne, Melbourne, VIC.



The authors would like to thank Merilyn Riley of the VBDR, Alice Jaques and Evelyne Muggli of Public Health Genetics at the Murdoch Childrens Research Institute, and staff at the cytogenetics laboratories across Victoria for help with data collection. We are also grateful for the thoughtful suggestions of our reviewers. All authors are supported by funding from the National Health and Medical Research Council of Australia.

Competing interests:

None identified.

  • 1. Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959; 183: 302-303.
  • 2. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4: 192-204.
  • 3. Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990; 26: 209-223.
  • 4. Ratcliffe S. Development of children with sex chromosome abnormalities. Proc R Soc Med 1976; 69: 3.
  • 5. Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 1975; 8: 223-243.
  • 6. Bochkov NP, Kuleshov NP, Chebotarev AN, et al. Population cytogenetic investigation of newborns in Moscow. Humangenetik 1974; 22: 139-152.
  • 7. Higurashi M, Iijima K, Ishikawa N, et al. Incidence of major chromosome aberrations in 12,319 newborn infants in Tokyo. Hum Genet 1979; 46: 163-172.
  • 8. Leonard MF, Schowalter JE, Landy G, et al. Chromosomal abnormalities in the New Haven newborn study: a prospective study of development of children with sex chromosome anomalies. Birth Defects Orig Artic Ser 1979; 15: 115-159.
  • 9. Maclean N, Harnden DG, Brown WM, et al. Sex-chromosome abnormalities in newborn babies. Lancet 1964; 1: 286-290.
  • 10. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-626.
  • 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. Prenat Diagn 1997; 17: 363-368.
  • 12. 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.
  • 13. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet 2004; 364: 273-283.
  • 14. Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008; 16: 163-170.
  • 15. Ferguson-Smith MA, Yates JR. Maternal age specific rates for chromosome aberrations and factors influencing them. Report of a collaborative European study on 52,965 amniocenteses. Prenat Diagn 1984; 4: 5-44.
  • 16. De Souza E, Morris JK; EUROCAT working group. Case-control analysis of paternal age and trisomic anomalies. Arch Dis Child 2010; Jun 28.
  • 17. Australian Bureau of Statistics. Births Australia 2006. Canberra: ABS, 2006: (ABS Cat. No. 3301.0.)
  • 18. Davey M-A, Taylor O, Oats JJN, et al. Births in Victoria 2005 and 2006. Melbourne: Victorian Perinatal Data Collection Unit, Department of Human Services, 2008.
  • 19. Australian Bureau of Statistics. Year book Australia, 2009–10. (ABS Cat. No. 1301.0.) 25773700177E5E?opendocument (accessed Nov 2009).
  • 20. Coffee B, Keith K, Albizua I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009; 85: 503-514.
  • 21. Denmark S. [Population statistics, 2009] [Danish]. (accessed Nov 2009).
  • 22. Wang YA, Dean JH, Badgery-Parker T, Sullivan EA. Assisted reproduction technology in Australia and New Zealand 2006. Sydney: Australian Institute of Health and Welfare, National Perinatal Statistics Unit; 2006. (AIHW Cat. No. PER 43.)
  • 23. Nielsen J, Pelsen B, Sorensen K. Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 1988; 33: 262-269.
  • 24. Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocr Metab 2006; 91: 1254-1260.
  • 25. Herlihy AS, Halliday J, McLachlan RI, et al. 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: 41-46.


remove_circle_outline Delete Author
add_circle_outline Add Author

Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article

Responses are now closed for this article.