Klinefelter syndrome

Also known as Syndrome 47-XXY, Klinefelter syndrome is defined as a chromosomal disorder that affects male sexual development.

The cause of this pathology is the presence of an extra copy of the X chromosome, the Klinefelter syndrome is not inherited. This syndrome is usually the result of a random event that occurs during the formation of reproductive cells (ova and sperm) called meiosis. An error in the division of a reproductive cell called non-disjunction (when the chromosomes during cell division migrate to a single pole of the cell) leads to an abnormal number of chromosomes. For example, an egg or sperm cell may have one or more extra copies of the X chromosome, as a consequence of non-disjunction.

There are some risk factors that have been associated with these events, such as advanced maternal age, which increase the risk of developing the syndrome. On the other hand, it has been suggested that in more than half of the cases it is the father who provides the extra copy of the X chromosome.

The most common signs presented by patients affected by Klinefelter syndrome are:

• Men with Klinefelter syndrome typically have very small testes that are not capable of producing testosterone, which is the hormone that drives male sexual development before birth and during puberty.
• The decrease in the amounts of testosterone during puberty can produce an increase in the size of the mammary glands (gynecomastia), decrease in body hair, beard and, finally, inability to have children, since they do not produce sperm (azoospermia) and infertility).
• Decreased sexual desire (libido).
• They also have overweight, as they tend to accumulate fat, especially at the hips.
• Children and young people who suffer from this syndrome tend to be tall with respect to those of their same age.
• Those affected with Klinefelter syndrome may also have learning problems and difficulties with language development. Likewise, they tend to be shy, quiet, sensitive and with little ability to make judgments.
• When the doctor has the clinical suspicion that a person has Klinefelter syndrome, a test called a karyotype should be requested in order to obtain a map of the chromosomes of that patient. The karyotype of a person with Klinefelter syndrome is usually 47, XXY. The normal male karyotype is 46, XY.

Because Klinefelter syndrome is a chromosomal problem, there is no treatment for the disease, although most symptoms can be treated.

Many men affected with this syndrome manage to lead a full active and normal life. However, patients with Klinefelter syndrome have an increased risk of certain diseases, such as: type 1 diabetes, lupus, hypothyroidism, male breast cancer, non-Hodgkin’s lymphoma, obesity and osteoporosis.

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