Klinefelter Syndrome And Therapeutic Options

Klinefelter syndrome is a chromosomal disorder that is characterized by maldevelopment of testes and underproduction of testosterone. It is also referred to as XXY syndrome. It has been observed that a fair percentage of affected individuals also develop disabilities involving learning and language processing.

Causes

The genetic makeup of male and female cells is very consistent; all women have 2 X chromosomes whereas men have 1 X and 1 Y chromosome. The normal baby has either XX chromosome (girls) or XY chromosomes (boys) but in case of Klinefelter the baby is born with an extra X chromosome that’s why the syndrome is known as XXY syndrome. This occurs during the development of sperm or egg due to defective genetic multiplication.

Symptoms Of Klinefelter syndrome

Klinefelter syndrome is associated with small testes however the symptoms may vary from person to person and not everyone may experience all the symptoms at once. It is noteworthy that almost all the symptoms aggravate over time. Most of the time the affected person may be shy, unassertive, sensitive and quiet. He may also be taller than his peers when he grows up.

Given below are the general symptoms of Klinefelter syndrome in men:

• Infertility
• Enlargement of breasts (gynecomastia)
• Poor levels of testosterone
• Diminished sex drive
• Low muscle mass
• Less body hair
• Broad hips

One of the most common complications of Klinefelter syndrome is infertility however the affected people are also at risk of developing more serious complications such as:

• Osteoporosis
• Diabetes
• Heart disease
• Depression and anxiety
• Varicose veins
• Lung disease
• Cancer such as breast cancer
• Autoimmune diseases

Diagnosis

A genetic test called karyotype may be used to detect this disorder. The first signs that usually give away the hint are learning difficulties. In most cases the doctors overlook the symptoms and the disorder remains undiagnosed. It is believed that only 25% of the total cases are actually diagnosed of which only 10% cases are diagnosed at younger age.

Treatment

Unfortunately, the chromosomal error associated with Klinefelter syndrome is irreversible and is beyond correction. Treatment only provides symptomatic relief. Following treatment approaches can be used to prevent the complications and worsening of existing symptoms:

• Testosterone replacement therapy:

The treatment is offered in the form of patch, gel, pills and injection. It helps in improving the hair growth of the body, strength, concentration and energy. It also prevents long term complications if detected early i.e. after the onset of puberty. The therapy does not offer any betterment to fertility health or testicle size.

• Fertility treatment:

Even when 50% of the affected men are capable of producing sperm, 95-99% of the cases are associated with infertility due to lack of sufficient sperm production for the fertilization of an egg. ICSI (Intracytoplasmic sperm injection) can help in increasing the chances of fertility. The procedure is carried out by injecting the sperm directly into the egg, after being removed from the testicle.

Early diagnosis can help in preserving the testicular tissue or semen prior to the initiation of testicular damage, which usually occurs at puberty. This is known as cryopreservation.

• Breast reduction surgery:

To date, no drug has been approved for treating gynecomastia. Oversized breasts can be removed with surgery however the procedure is not free of risks. Breast reduction surgery gives the chest a masculine look. It also minimizes the risk of breast cancer in men having Klinefelter syndrome.

• Psychological counseling:

It can be very distressing and embarrassing to put up with the symptoms of Klinefelter syndrome particularly for young males. The society puts a lot of pressure on the affected people and regards them with disapproval. The troubles of the victims do not end here as they also face a lot of problems due to their infertility. The syndrome can bring out the feelings of hopelessness and may even trigger depression. In all such cases, psychological counseling is usually very beneficial.

• Therapeutic support:

The therapeutic supports that may assist the affected people with:

• Behavioral therapy
• Occupational therapy
• Educational support
• Physical and speech therapy

References

• Zitzmann, M., Bongers, R., Werler, S., Bogdanova, N., Wistuba, J., Kliesch, S., ... & Tüttelmann, F. (2015). Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. The Journal of Clinical Endocrinology & Metabolism, 100(3), E518-E523.