Klinefelter syndrome is a genetic disorder affecting males. In this disorder the affected male has an extra X chromosome. Male suffering from this disorder have XXY chromosome instead of XY chromosome. Patients suffering from klinefelter syndrome have underdeveloped testis, reduced testosterone, sparse body and facial hair, gynecomastia. Most males with klinefelter syndrome are infertile.
The signs and symptoms of this genetic disorder are often variable depending on the extra X chromosome involvement in different types of body cells. Klinefelter syndrome has no hereditary linkage, and the abnormal extra chromosome results by chance.
With treatment most males can overcome their physical and psychological problems. Some males with enlarged breast may need breast reduction surgery.
What Is The Cause Of Klinefelter Syndrome?
Although klinefelter syndrome is a genetic disorder, it is not a hereditary disease. The abnormality in the chromosome occurs randomly. It is a disorder that occurs by chance. The abnormality may develop at the time of fertilization of egg. The disease occurs due to extra X copy of chromosome. It is the disease affecting males.
There are 23 pairs of chromosome. Each chromosome has specific genes that have particular function and role to play in the body.Normally the baby born with XX is female while baby boy has one X and one Y chromosome. However, in males suffering from klinefelter syndrome they have XXY chromosome.
Signs And Symptoms Of Klinefelter Syndrome
The symptoms of klinefelter syndrome vary as it depends on the cells affected. It is a disorder of males. In majority of cases the disease is noticed during adulthood. Here are prominent signs and symptoms of this disorder:
- Small size of testis
- Small sized penis
- Enlargement of breast
- Tall stature
- Weak bones
- Fatigue and tiredness
- Childhood delayed speech
- Sparse growth of underarm, facial and pubic hair.
- Poor development of muscles.
- Undecended testis during birth.
- Infertility due to lack of sperm.
- Problem related to learning and reading.
- The affected boy often does not socialize.
Complications And Diagnosis Of Klinefelter Syndrome
Patients suffering from klinefelter syndrome have increased tendency to certain diseases and complications such as:
- Osteoporosis of bones
- Breast cancer
- Testicular cancer
- Depression and psychosis
- Diabetes and hypothyroidism
- Lupus or rheumatoid arthritis
There are number of tests that help to diagnose klinefelter syndrome.
- Clinical examination of patient. All males with klinefelter syndrome have small testis. It can be detected during genital examination.
- Blood examination for hormonal tests.
- Chromosome analysis from collected blood.
- Semen examination for azoospermia.
Treatment Options For Klinefelter’s Syndrome
Klinefelter syndrome is not curable however most of the problems can be solved with the help of team of health care providers. Treatment is aimed at improving physical and mental problems that are common in klinefelter syndrome.
- Hormone therapy: Hormone replacement therapy is useful to stimulate the production of testosterone especially during puberty. This will help growth of secondary sexual characteristics such as facial and underarm hair, deep voice, and increase in muscle mass, size of penis. However, it may not improve the chances of infertility.
- Male suffering from enlargement of breast may need surgical intervention for breast reduction.
- Physical therapy and speech therapy are useful to increase muscle mass and problems related to speech.
- Most men suffering from klinefelter syndrome are not able to father children because there is no production of sperms.
- Patient may also need psychological counseling.