Klinefelter Syndrome

Klinefelter syndrome is the chromosomal disorder found in males, where the baby boy is born with an extra copy of the X chromosome. It adversely affects the cerebral and physical growth of the males and sometimes it is been diagnosed during adulthood.

Klinefelter syndrome severely strike the testicular development significantly and thus the testicles of the male is smaller as compared to the normal man, that also result in the low production of the testosterone.

This chromosomal condition is also responsible for the enlarged breast tissue, less muscular mass, body and facial hairs. However, the signs and symptoms may vary from one affecting person to another. Moreover, most of the men with this condition are unable to produce no or less number of sperms, but undergoing medical treatment turned into positive side in this case.


Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome show few or only mild signs. The condition may go undiagnosed until adulthood or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance.

Signs and symptoms of Klinefelter syndrome also vary by age.

  • Infants ( new born) may be observed by having:
  • Debilitated muscles, slow growth rate ( motor development) and takes longer time to crawl and walk, and even in speaking than usual.
  • Additionally, problems in testicles, that did not plunge into the scrotum.

Boys and teenagers may be observed by having:

  • Such people are heighted than the average stature, along with shorter torso and longer legs.
  • Longer legs, shorter torso and broader hips compared with other boys.
  • Lacking or incomplete puberty, and even after these males develops less facial and body hairs when compared to the normal one.
  • Moreover, short penis, firm testicles and puffed breast tissues ( gynecomastia).
  • Such person has low energy levels, weak bones. Moreover, they are sensitive, less expressive and interactive and face difficulty while reading, spelling and writing.

Men may be noticed by following symptoms:

  • Firstly, such males have either less or no sperms, small penis and testicles.
  • As mentioned earlier, heighted than the normal stature, weak muscles and bones.
  • They have puffed breast tissues and increase belly fat.


Klinefelter syndrome is not a genetically or inherited condition, it happens due to the unknown error (mutations) causing a man to grow with the extra sex chromosome.

Normally, we humans have 46 chromosomes that counts the two sex chromosomes also. In females the sets have autosomes plus two XX chromosomes , whilst male has autosomes plus XY chromosomes sets. However, in case of the Klinefelter syndrome the changes are in the number of chromosomes, where there is one additional copy of X chromosome in each cell (XXY). This is the most significant cause.

Moreover, if there are more than one extra copy of X chromosome, though this is the rarest case but results may be severe. Therefore, we can say that extra chromosome in each set of the cell may interfere with the overall as well as the sexual development in male.

When to visit doctor

One should visit the doctor, if your child has slow growth and development at any of the progressing stage of his life. Firstly, one needs to visit the doctor if the new born shows the slow rate of growth, that can be counted as the first sign for the Klinefelter syndrome. Although, in some child due to other factors also, the development rate and mental health may interfere in blooming the normal child.

Male infertility is the crucial reason, in the Klinefelter syndrome and they aren’t diagnosed with infertility until they realize they’re unable to father a child.

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