Klinefelter Syndrome (X Chromosome)

This genetic condition, Klinefelter syndrome occurs due to the presence of an extra copy of X chromosome in boys. It is a common genetic defect affecting males.

It causes adverse effects to testicular growth, resulting in smaller testicles than usual. It can also cause lower production of sex hormone testosterone. Other symptoms include reduced facial and body hair, enlarged breast tissue and reduced muscle mass. The effects may vary, but these symptoms are not visible in everyone suffering from Klinefelter syndrome.

This medical condition is not identified until reaching adulthood. Men suffering from it make little or no sperm. In such cases, assisted reproductive procedures help them in fathering children.

Causes

Klinefelter syndrome occurs due to the existence of an extra copy of X chromosome which happens when the genetic material is split unevenly in the egg. In other cases, in spite of an even egg split the syndrome may occur. Klinefelter syndrome is a genetic disorder, but it doesn't pass down to the off-springs. Therefore, parents having a child with Klinefelter syndrome doesn't indicate that the second child will have higher chances of suffering with the same.

Symptoms

The various noticeable signs and symptoms associated with Klinefelter syndrome are as follows:

1) Babies:

Slow motor development
Delay in speaking
Weak muscles
Quiet and docile personality
Problems seen at birth

2) Boys and teenagers:

Shyness
Low levels of energy
Small, firm testicles
Less muscular body
Less facial and body hair
Taller than the average stature
Attention problems
Difficulty in expressing feelings and socializing
Enlarged breast tissue (gynecomastia)
Problems related to writing, reading, math and spelling
Weak bones
Small penis
Delayed, absent or incomplete puberty
Longer legs, broader hips and shorter torso as compared to other boys of the same age

3) Men:

Enlarged breast tissue
Weak bones
Taller than the average stature
Decreased sex drive
Decreased body and facial tissue
Small penis and testicles
Infertility

Diagnosis

The patient mainly comes to the doctor with the problem of infertility. Infertility is the most common symptom. For the diagnosis of Klinefelter syndrome, the doctor may perform the following tests:

Karyotyping
Semen count

Blood tests are also ordered to check the hormone levels including:

Testosterone
Follicle stimulating hormone
Luteinizing hormone
Estradiol (type of estrogen)

Treatment

The early treatment can help in minimizing the problems related to Klinefelter syndrome. The patient may have to work with a doctor specializing in diagnosing and treating the disorder that involves body's glands and hormones, a paediatrician, a speech therapist, a physical therapist, an infertility specialist, a genetic counsellor and a psychologist.

The treatment methods used are as follows:

Testosterone replacement therapy: Testosterone is provided to the individual in the form of injection or a gel on the skin. It helps it allowing the child to undergo normal physical changes as an adolescent.
Breast tissue removal: Men with excess breast tissue can remove it through surgery.
Speech and physical therapy: It helps the individual in overcoming problems associated with language, speech and muscle weakness.
Educational support: It can benefit the child as he may have trouble in learning and would require extra assistance.
Fertility treatment: In this procedure, the sperm is detached from the testicle with the help of a biopsy needle and is directly injected inside the egg.
Psychological counselling: This therapy helps in coping with the infertility and the emotional stress.

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