What Is The Cause Of Klinefelter Syndrome? Symptoms & Diagnosis

Klinefelter syndrome is a genetic condition which occurs when a male child is born with one additional copy of the X chromosome. It affects testicular growth, causing smaller than normal testicles, resulting in a low synthesis of testosterone. There will also be reduced muscle mass, poor body and facial hair, and larger breast tissue.

Most men with Klinefelter manufacture little or no sperm; however assisted reproductive methods make it possible to father children.

The condition develops as a consequence to an accidental mistake that occurs and a male child is born with one spare sex chromosome. We have 46 chromosomes, including 2 sex chromosomes which decide one’s sex. Females have 2 X sex chromosomes; while males have 1 X and 1 Y sex chromosome.

Klinefelter syndrome occurs when there is:

  • 1 additional copy of X chromosome in each cell (XXY).
  • 1 extra X chromosome in some cells.
  • More than 1 extra copy of the X chromosome.

Symptoms & Characteristics Of Klinefelter’s Syndrome

The symptoms of Klinefelter syndrome differ amongst men who have the disorder.

Most males who have the disorder have few perceptible indications, and the disorder may not be diagnosed till adulthood. For some, there will be an obvious effect on the individual’s appearance and growth.

Here is a list of the clinical features in babies, children teens and adults:


  • Weak muscles
  • Slow development – he will take relatively longer to crawl, sit and walk.
  • Delayed speech
  • Docile
  • The testicles haven’t descended into the scrotum at birth.

Boys and teenagers

  • Longer legs, shorter torso and broader hips compared to boys.
  • Taller
  • Absent, postponed or partial puberty.
  • Less muscle mass as well as less facial and body hair.
  • Weak bones
  • Small penis
  • Small, firm testicles
  • Enlarged breast tissue
  • Poor stamina and endurance levels.
  • Shy and submissive.
  • Trouble expressing thoughts and feelings.
  • Trouble with reading, writing, math.


  • Small penis and testicles.
  • Reduced sperm count.
  • Decreased libido.
  • Taller than average height.
  • Weak bones and muscles.
  • Less facial and body hair.
  • Enlarged breast tissue.
  • Fat belly.

How Is Klinefelter Syndrome Diagnosed?

Diagnosis is very essential to manage a case better; your health care provider will carry out a thorough physical examination and ask questions regarding your symptoms and health.

The chief investigations that are employed to diagnose the condition are:

  • Hormone testing: Urine and blood samples demonstrate abnormal levels of hormone which could be an indication of Klinefelter syndrome.
  • Karyotype analysis: This test verifies the diagnosis of Klinefelter syndrome. Blood sample is sent to the laboratory to assess the shape and number of chromosomes.

Some males who have Klinefelter syndrome may be diagnosed before delivery. This may happen when a pregnant woman has cells of the fetus drawn from the amniotic fluid or from the placenta and examined for some other cause, such as if she is older than 35 years or has a family history of genetic disorders.

Research and studies have revealed that Klinefelter’s has an unpretentious influence on one’s life span. Characteristically, what is seen is that one who has Klinefelter’s has 3-5 years less than another male, of the same age not having the condition. Everything depends upon good medical care and management.