Klinefelter Syndrome Symptoms and Causes

Klinefelter syndrome Symptoms and Causes

 

There are number of genetic diseases. All of them have some or other abnormality associated with chromosomes. Some are related to sex chromosomes, while others with the autosomes. Klinfelter is one of these dreaded genetic diseases. It is important as its frequency or rate of occurrence is a bit on higher side among the genetic disorders. It affects only males. Females remain unaffected.

Klinefelter syndrome Symptoms and Causes

Klinefelter Syndrome Symptoms and Causes

This is due to the fact that it is caused by extra X chromosome in the genotype of males. The syndrome derives its name after Harry Klinefelter |(March 20, 1912 – February 20, 1990). He was an American rheumatologist and endocrinologist. He had suspected this disease tom to be endocrinological disease. But further investigations suggested that the root cause is genetic abnormality. This genetic abnormality caused hormonal imbalance and thus the defects. The characteristic features related to the disease are as mentioned below.

  • Genotype:- 44+XXY or 44+XXXY or 44+XXXXY
  • Etiology/Causative factors:-

Chromosomal non-disjunction leads to these above mentioned genotypes. Elderly mothers (thirty five years or more) are comparatively at higher risk. Statistical analysis of data shows elderly mothers are more prone to give birth to affected children than young mothers.

Phenotypical or Physical features:-

1. The Affected person is male usually with long legs.

2. External genitalia may develop normally or may remain infantile in their appearance. In case of normal development, they don’t produce sperms (azoospermia). Thus, the patient is sterile.

3. Though the affected individual is a male, absence or deficiency of testosterone leads to development of breasts.

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4. Poor growth of facial and body hair is usually seen.

5. There is decreased libido.

6. Voice is high pitched.

7. Growth and physical development are quite normal. But secondary sexual characters don’t develop.

8. With respect to intelligence level, patients suffering from this syndrome show below average intelligence. They are not able to get higher education.

 

These patients cannot be completely cured. Intent of treatment is to increase the quality of life. The modalities of the treatment are as follows.

  • Physiotherapy
  • Speech and language therapy.
  • Counseling
  • Adjustment of teaching methods.
  • Can go for testosterone replacement for a patient having a significantly low level of it.
  • Those having enlarged breasts can be removed by surgery.(mastectomy)
  • With assisted reproductive technology patients can have a chance to reproduce children.

Here the idiom “prevention is better than cure” holds well. Preventive genetic counseling is the way out.

 

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