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Klinefelter syndrome

The Klinefelter syndrome is a chromosomal abnormality sex which is also known by the name of dysgenesis of the seminiferous tubules.

It affects one in five hundred males, causing hypogonadism, infertility, and gynecomastia (abnormal enlargement of the breast).

Why is it produced?

The normal chromosome endowment of the human being is 46 chromosomes (44 autosomal and 2 sexual). Chromosomal sex is determined by the pair of sex chromosomes, these are XX for women and XY for men.

In Klinefelter syndrome, three sex chromosomes (XXY) appear, that is, an extra X chromosome.

This abnormality is due to a poor distribution of sex chromosomes during cell division of germ cells or zygote. The advanced age of the mother is a predisposing factor for this error in cell division.

In Klinefelter syndrome:

  • The testicle produces less testosterone and shows atrophy of the seminiferous tubules, making it unable to form sperm.
  • The transformation of androgens to estrogens is increased in peripheral tissues.

The end result is:

  • sterility, due to the absence of sperm.
  • insufficient androgenization, due to the lower amount of testosterone.
  • increased feminization (which will depend on the androgen / estrogen ratio in the blood).

Symptoms of Klinefelter syndrome

The characteristics of klinefelter syndrome are:

  • small, hard testicles
  • Gynecomastia, which usually appears in adolescence, is bilateral and painless. These patients have a risk of breast cancer twenty times greater than the normal male.
  • female distribution of body fat and hair
  • tall stature at the expense of the lower extremities
  • sterility
  • in a third of the cases appear:
  • obesity
  • mild mental retardation
  • thyroid function abnormalities
  • diabetes
  • osteoporosis
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Most patients show a male psychosexual orientation and function sexually as males.

How is it diagnosed?

It is suspected in the presence of small and hard testes on palpation, gynecomastia and sterility.

In the laboratory we find elevated levels of FSH and LH, along with decreased or normal levels of testosterone in the blood.

Analysis of seminal fluid reveals azoospermia.

The karyotype will be 47XXY (forms with more additional X chromosomes, 48XXXY or 49XXXXY, can also be found).

If a testicular biopsy is performed, we will find atrophy of the seminiferous tubules and absence of spermatogenesis.

Treatment of Klinefelter syndrome

Sterility lacks treatment. Donor sperm can be used.

Gynecomastia is surgically corrected with bilateral mastectomy.

Hypogonadism resolves with oral or injected administration of testosterone. Oral administration of this causes many side effects.

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Hello Readers, I am Nikki Bella a Psychology student. I have always been concerned about human behavior and the mental processes that lead us to act and think the way we do. My collaboration as an editor in the psychology area of ​​Well Being Pole has allowed me to investigate further and expand my knowledge in the field of mental health; I have also acquired great knowledge about physical health and well-being, two fundamental bases that are directly related and are part of all mental health.

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