Klinefelter's Syndrome - How To Diagnose It?

Klinefelter's syndrome is a medical condition in which a boy is born with an extra copy of the 'X' chromosome. Klinefelter's syndrome has an adverse effect on testicular growth and results in the formation of smaller than normal testicles. This affects the production of the sex hormone testosterone. It can also cause lower retention of muscle mass, facial or body hair and enlarged breast tissues. It is difficult for people who are diagnosed with Klinefelter's syndrome to father children because they produce little to no sperm and often has to resort to take help from assisted reproductive procedures to procreate.

Symptoms

Generally Klinefelter's syndrome is not diagnosed before adulthood because of the fact that there are few noticeable symptoms which might indicate Klinefelter's syndrome during infancy, childhood or adolescence period. 
The few characteristics which might indicate the condition are listed below:

1. Development of weak muscles.
2. Taking above average time to develop basic motor skills.
3. Delaying in speaking.
4. The testicles haven't descended into the scrotum.
Boys and teenagers develop the following characteristics:
1. They tend to have longer leg and broader hips than their peers.
2. Onset of puberty is delayed or in some cases absent or incomplete.
3. After puberty, less muscular bodies and less facial and body hair compared with other teens
4. Smaller than average size of penis.

Causes

1. Klinefelter's syndrome occurs due to the occurrence of an extra 'X' chromosome in the cells instead of the normal combination on 'XY' chromosomes. 
2. In some severe cases, there is the occurrence of more than one extra 'X' chromosome in each cell. 
3. This is not inherited or a genetic condition. This occurs due to a random error during the formation of the egg , the sperm or post conception.  

Diagnoses and Treatment

1. Chromosome analysis and hormone testing are the two main ways to diagnose this condition.
2.  Abnormal hormone levels present in blood and urine, might indicate Klinefelter's syndrome.

Early diagnosis and medication minimizes the effects of Klinefelter's syndrome. These include:

1. Testosterone replacement therapy. In treatment, testosterone is injected at regular intervals from the onset of puberty to ensure normal growth.
2. Patients also need educational support as well as speech therapy to overcome any barriers the patient is experiencing.
3. Removal of excess breast tissue and fertility treatment. 
4. With the help of intracytoplasmic sperm injection, it is possible for patients with low sperm production to father children.
 

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