Klinefelter Syndrome/47,XXY Diagnosis

Klinefelter Syndrome/47,XXY Diagnosis

Basic Phenotype

“Klinefelter syndrome (KS) is a condition that occurs in men who have an extra x chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age. After puberty, boys with KS may have smaller testes and penis, breast growth, less facial and body hair, reduced muscle tone, narrower shoulders and wider hips, weaker bones, decreased sexual interest, and lower energy. KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.” (MedlinePlus, 2015)

Other Important Life Outcomes

  • The effects of 47, XXY are so minimal for some men that only only 25% of men with KS ever receive a diagnosis, and less than 10% of those are diagnosed before puberty. (Bojesen & Gravholt, 2007)
  • 2/3 of men with 47,XXY have learning disabilities, but only about 10% of individuals with Trisomy sex chromosome aneuploidies have IQs of 70 or less (Boada et al, 2011).
  • Because the original research of men with 47, XXY was performed on prison and institutional populations, there was originally a misconception that people with Klinefelter syndrome were more inclined to criminal behavior. However, subsequent research found that men with 47, XXY experienced no increased criminality, except moderately in low socioeconomic populations (Stochholm et. al, 2012)
  • More recent research has also shown that assisted reproduction is possible. (Paduch, 2009)

Additional Resource: Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations

References

  1. https://medlineplus.gov/klinefelterssyndrome.html
  2. Bojesen, A., & Gravholt, C. H. (2007). Klinefelter syndrome in clinical practice. Nature Reviews Urology, 4(4), 192.
  3. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. Dev Disabil Res Rev. 2009;15(4):284–294
  4. Götz MJ, Johnstone EC, Ratcliffe SG. Criminality and antisocial behaviour in unselected men with sex chromosome abnormalities.Psychol Med. 1999;29(4):953–962
  5. Stochholm K, Bojesen A, Jensen AS, Juul S, Gravholt CH. Criminality in men with Klinefelter’s syndrome and XYY syndrome: a cohort study. BMJ Open. 2012;2(1):e000650
  6. Paduch DA, Bolyakov A, Cohen P, Travis A. Reproduction in men with Klinefelter syndrome: the past, the present, and the future.Semin Reprod Med. 2009;27(2):137–148