Klinefelter’s syndrome

What is Klinefelter’s syndrome ?

It refers to a congenital, genetic condition characterized by the presence of an extra copy of the X chromosome in a boy. It is one of the most common genetic disorders affecting males

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Klinefelter’s syndrome seriously affects testicular development which can result in the occurrence of abnormally small testicles. This can lead to reduced production of the sex hormone called testosterone. Also, Klinefelter’s syndrome may cause bigger breast tissue, decreased muscle mass and reduced quantities of body and facial hair. The effects of Klinefelter’s syndrome vary from one patient to the other and not all affected individuals may elicit the symptoms

Klinefelter’s syndrome usually remains undiagnosed till adulthood. A majority of men affected the condition experience reduced or absent sperm production. However, the newer reproductive treatment procedures can help some men with Klinefelter’s syndrome in becoming fathers.

Symptoms of Klinefelter syndrome

A majority of the newborns with Klinefelter’s syndrome may not show any signs or symptoms, with the condition remaining undetected till adulthood. Other affected males may elicit distinct problems in appearance and development. Some boys with Klinefelter’s syndrome may have speech and learning problems. Depending on the age of the affected individual, Klinefelter’s syndrome may cause the following symptoms:

  • In babies:
    • Weak muscles
    • A quiet and passive personality may be observed
    • The baby may experience delays in crawling, sitting up, walking and other reaching other developmental milestones
    • Delayed speech
    • Undescended testicles and other anomalies may be observed at birth
    • In young boys and teenagers:
      • They are taller as compared to normal standards
      • As opposed to normal boys, the hips are wider, the legs are longer and the trunk is shorter
      • Delayed, incomplete or absent puberty
      • Diminished body and facial hair and decreased muscle tone, in comparison to normal teenagers
      • Unusual enlargement of the breast tissue
      • A small penis accompanied by small, firm testicles
      • Reduced levels of energy
      • Excessive shyness
      • Weak bones
      • Reading, writing, spelling or math difficulties
      • Concentration or attention difficulties
      • Problems in expressing feelings or socializing
      • In men:
        • Bigger breast tissue
        • Taller than standard height
        • Infertility
        • Small penis and testicles
        • Weaker bones
        • Decreased body and facial hair
        • Sexual anomalies like reduced sex drive, etc.

Causes of Klinefelter’s syndrome

Klinefelter’s syndrome is caused because of a random mistake which results in the male baby to be born with an extra X chromosome. It is known that a normal female child is born with 2 X sex chromosomes, while a normal male child is born with one X and one Y sex chromosome.

Most instances of Klinefelter’s syndrome are usually cause because of the occurrence of an extra copy of the X sex chromosome in each cell. Some male with Klinefelter’s syndrome may elicit an extra copy of the X chromosome in just a few cells of the body, leading to development of mosaic Klinefelter syndrome. In extreme rare instances, males with this disorder may be born with more than a single extra copy of the X chromosome

Klinefelter’s syndrome is not a hereditary condition. The occurrence of an additional sex chromosome results due to some random fault at the time of forming the maternal egg or the paternal sperm, or during conception.

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Women who become mothers after reaching an age of 35 years or above are at increased risk birthing a child with Klinefelter syndrome, as opposed to women who experience pregnancies at a younger age.

Klinefelter’s  syndrome – Treatment

Klinefelter’s syndrome has no known cure or treatment methods which will undo the effects of the presence of an additional X sex chromosome. However, early detection and diagnosis of the syndrome can help in restricting the damages. It may be noted that treatment for Klinefelter’s syndrome can commence at any age.

Some of the treatment procedures for Klinefelter’s syndrome are as follows:

  • Testosterone replacement therapy, if commenced during puberty can help in the normal development of the body and reduce the many symptoms of Klinefelter syndrome. However, the treatment does not improve the size of the testicles or enhance the levels of fertility.
  • Speech and learning deficits can be alleviated with various therapies like speech and physical therapy.
  • Most of the men with Klinefelter’s syndrome experience infertility and not make any sperm. Fertility treatment is helpful for such men with reduced production of sperm, and thereby possibly allowing them to become fathers
  • Psychotherapy and counseling may help in overcoming the different social and emotional problems experienced by individuals affected by Klinefelter syndrome
  • The increased breast tissue can be eliminated via surgery

Life expectancy of Klinefelter’s syndrome patients

A majority of the men affected by Klinefelter’s syndrome tend to have a normal life span. However, it has been reported that affected individuals are at increased vulnerability to different systemic conditions such as autoimmune diseases, osteoporosis, lupus, epilepsy, arthritis, breast cancer, diabetes, and germ cell tumors, which can be life threatening.

Overall, the men suffering from Klinefelter’s syndrome show a decreased life expectancy with a substantially decreased median survival of 2.1 years. No single cause has been detected as the primary reason for such diminished survival. However, the increased mortality was associated to the wide range of disorders associated with Klinefelter syndrome.

Klinefelter’s syndrome – Pictures

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