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Klinefelter Syndrome

December 12th, 2016

Klinefelter Syndrome

Klinefelter Syndrome

Klinefelter syndrome is a genetic syndrome which occurs in men who are born with at least one additional X chromosome on top of the normal XY combination. Chromosomes are found inside the cellular nucleus and are made of hundreds of genetic combinations. Each genetic combination of nucleotide bases is responsible for the production of a certain protein. These proteins are in turn responsible for providing instructions about our body functions such as reproductive functions and determine characteristics like height, eye color, etc.

A normal individual has 23 pairs of chromosomes out of which one pair determines the sex or gender of individual. A female possesses two X chromosomes (or XX); while male possess one X and one Y chromosome (XY). In Klinefelter syndrome, affected men have one extra X chromosome due to genetic mismatch or mutation; thereby making the XXY chromosome combination. If only few cells contain extra X chromosome, the symptoms or physical presentation will be less severe i.e. mosaic Klinefelter syndrome. Though rarely, but condition may present with very severe symptoms hen there are two or more additional X chromosomes on several cells.

What Causes Klinefelter Syndrome?

It is not a heritable disorder and is completely a fortuitous addition of chromosome that may occur in egg, sperm or in the zygote (after fertilization).

Signs And SymptomsY Chromosome Image

The signs and symptoms vary from subject to subject. Some affected males may be asymptomatic but doctors can identify the understated physical signs and symptoms. Having very small testicles is the most obvious sign of mosaic Klinefelter syndrome. Most men are diagnosed after hitting puberty or reaching manhood however, two-third men are never diagnosed. Other notable symptoms are:

  • Infertility
  • Undescended, small and firm testis
  • Breast enlargement
  • Delayed motor and speech skills
  • Weak bones
  • Low sperm count
  • Decreased body & facial hair
  • Accumulation of belly fat

How To Diagnose Klinefelter Syndrome?

The diagnostic tests to detect Klinefelter syndrome include hormonal testing, physical examination and analysis of chromosomes. Though it can be diagnosed before birth but usually these tests are not conducted routinely prior to birth unless there is a significant risk of chromosomal abnormalities in the offspring.

How To Treatment Klinefelter Syndrome?

Klinefelter syndrome is not a single disorder; but instead a group of abnormal conditions! Therefore, such people require to be inspected by team of healthcare professionals including, general practitioners, pediatricians, urologists, endocrinologists, genetic counselors, speech therapists and psychologists. For proper formation of bones, muscles and male sexual traits such as facial hair growth, it is suggested by healthcare experts to start testosterone therapy during puberty. Long term health issues can be prevented if treatment is continued throughout the life. However, testosterone therapy cannot fix fertility problems; it requires more expensive and specialized treatments. But, some men with Klinefelter syndrome do have the ability to reproduce. Breast enlargement is another problem associated with Klinefelter syndrome which can be fixed via surgery. Social and learning difficulties are also part of syndrome and with treatment these problems can be controlled.


  • Aksglaede, L., & Juul, A. (2013). Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review. European Journal of Endocrinology, 168(4), R67-R76.
  • Rogol, A. D., Swerdloff, R. S., Reiter, E. O., Ross, J. L., ZumBrunnen, T. L., Pratt, G. A., … & Miller, M. G. (2014). A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with Klinefelter syndrome or anorchia. Journal of Adolescent Health, 54(1), 20-25.
  • Paduch, D. A., & Ryan, C. T. (2015). Klinefelter Syndrome: Early Treatment of the Adolescent Is Warranted. In Biennial Review of Infertility (pp. 203-211). Springer International Publishing.

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