Klinefelter syndrome

What is Klinefelter syndrome

Klinefelter syndrome is a genetic disorder that affects men. It occurs when a boy is born with one or more X chromosomes. Normally, males have 1 Y and 1 X chromosome. When a boy has more X chromosomes, this can cause boys to exhibit some atypical physical traits.

In many cases, affected men are completely unaware that they have an extra X chromosome and lead a normal lifestyle. Men with this condition are described as XXY men or men with XX Y syndrome. This syndrome occurs once in 1000 newborn boys.

What are the symptoms of Klinefelter syndrome?

In many cases, those affected have no visible symptoms. In other cases, men have sparse body hair, enlarged breasts – gynecomastia, and a wide pelvis and narrow shoulders, characteristic secondary sex characteristics of women. In nearly affected men, the testicles do not reach their usual size. Less often, the penis does not reach its usual size.

The voice of those affected does not reach the usual depth characteristic of most men. They are usually sterile, but can have normal sexual intercourse. Some boys with the syndrome may also have cognitive problems, but these are rather secondary and are the result of their possible rejection by other children, due to the differences in their appearance.

What are the causes

The extra X chromosome in men occurs as a result of the uneven distribution of genetic material during egg meiosis. But it can also occur when the genetic material in the sperm is distributed incorrectly.

Treatment of Klinefelter’s syndrome

Treatment is carried out through hormone replacement therapy with testosterone – a hormone necessary for the formation of secondary sexual characteristics in men. The hormone is secreted by the testicles, but in this disease they do not reach the required size, they cannot release enough of this hormone. If the disease is detected in time, it will help the normal development of the body and, above all, secondary sexual characteristics characteristic of men.

Testosterone is administered by injection, in tablet or gel form. The treatment lasts until the end of a man’s life, but does not affect infertility.

Consultations with a psychologist may be necessary to overcome the child’s stress and depression because he sees differently from other boys.

How to help your son

If your son has already been diagnosed with XXY syndrome you can do the following:

  • Give free rein to your feelings. It is natural for parents to feel guilty about their child’s illness. But this is a genetic disease and no one is to blame. Give yourself time to deal with your guilt and talk to your son’s doctor, who may be able to help you overcome your guilt.
  • Research all about the disease, including treatment options treatment. The most common problem for parents is fear of the unknown. This will help you learn how to help your son.
  • Encourage your son to participate in activities that will help him develop his physical and motor skills such as martial arts, basketball, soccer or swimming .
  • Encourage your son’s independence. Although it is important for him to feel that he has your support, give him the opportunity to make certain decisions on his own, so try not to create limits for him.

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