Klinefelter’s Syndrome

Introduction

Klinefelter’s syndrome is best described as a genetic condition that affects the male child only. It occurs when the male child is born with extra X chromosomes. The syndrome affects testicular growth adversely resulting to testicles that are smaller than normal.

As a result of this, it leads to low production of testosterone, the sex hormone. Klinefelter’s syndrome can also cause reduced muscle mass, facial hair, enlarged breast tissues and reduced body. Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs.

Often, the syndrome is not diagnosed till adulthood and most men with the syndrome will report to produce little to no sperm. However, there are assisted reproduction procedures that can make it possible for the men affected to father children.

Symptoms

As earlier mentioned, Klinefelter’s syndrome is not noticed until puberty which can come late if the male child has the syndrome. There are other instances when the condition can only be diagnosed when infertility investigations are been carried out in adults. The typical symptoms in adults however include:

• Small testes
• Gynaecomastia (development of breast tissue)
• Decreased facial  hair as compared to usual males
• A thin, tall body with disproportionately long legs and arms
•  Obesity which can cause a thick waistline but which is partially disguised by  hips that  are wider than normal.
• Decreased pubic hair as compared to usual males

Symptoms noted in adolescents and children with the syndrome include:

• Delay in age of first walking
• Dyspraxia which often causes problems with coordination
• Language and speech difficulties or delay
• Attention problems
• Learning disabilities that are mild
• Reading or dyslexia problems
• Behavioral problems-Most boy don’t have self confidence and they are also shy. In addition to this, they might also appear as immature compared to other boys their age.

In adulthood, the typical symptoms will include the following:

• Problems getting an erection as well as low sex drive (libido)
• Depression and anxiety
• Development of thin bones in middle or young age and not the usual old age as is common with the condition
• Men will feel less muscular when  they compare themselves with others
• Most of the men are infertile.

Treatment

The genetic variation of Klinefelter’s syndrome cannot be reversed. While this is the case, there are treatments that can aid in minimizing the effects. Diagnosis should be made early so that treatment can be started to ensure the patient recovers fully. Some of the common treatments include testosterone replacement therapy, educational support, fertility treatment, psychological counseling, physical and speech therapy.

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References

http://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/basics/definition/con-20033637

http://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/basics/treatment/con-20033637

http://en.wikipedia.org/wiki/Klinefelter_syndrome#Treatment

http://www.patient.co.uk/health/klinefelters-syndrome