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Klinefelter's syndrome > Health and Wellness.

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Also known as 47-XXY syndrome, Klinefelter's syndrome is defined as a chromosomal disorder that affects male sexual development. In 1942, Dr. Harry Klinefelter and colleagues at the Massachusetts General Hospital, in the city of Boston, published a special report on nine men who had the enlargement of breasts, little facial and body hair, small testes, and inability to produce sperm.

What is the cause of Klinefelter's syndrome?

In the 1970s, researchers from around the world tried to identify the cause of this syndrome and karyotype (chromosome map) studies conducted more than 40,000 newborn male. They found that the prevalence of this syndrome is of one case per every 500 to 1,000 newborn babies living males and that children with Klinefelter Syndrome had an extra copy of the X chromosome in each cell, i.e. its karyotype 47, XXY was.
There are also variants of Klinefelter Syndrome that include more than one X chromosome extra or copies extras and both X chromosomes in each cell, as in the so-called case mosaic. These patients often have signs and symptoms more severe than classic Klinefelter Syndrome, as well as affecting male sexual development have problems with learning, distinctive facial features, skeletal abnormalities, coordination of movements, and severe language problems.

Symptoms of Klinefelter Syndrome

These are the most common signs with patients affected by Klinefelter's syndrome:
  • Men with Klinefelter's syndrome typically have very small testicles that are not able to produce testosterone, which is the hormone that directs the male sexual development before birth and during puberty.
  • The decrease in the quantities of testosterone during puberty can produce an increase in 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 are also overweight, since they have a tendency to the accumulation of fat especially at the level of the hips.
  • Children and young people who suffer from this syndrome tend to be carving high with respect to the same age.
  • Patients with Klinefelter's syndrome may also have learning problems and difficulties with the development of the language. Also, they tend to be shy, quiet, sensitive and with little ability to establish trials.

Diagnosis of Klinefelter Syndrome

· When the physician has the clinical suspicion that a person has Klinefelter's syndrome, a test called a karyotype in order to obtain a map of the chromosomes of the patient must be requested. The karyotype of a person with Klinefelter Syndrome is usually 47, XXY. Normal male karyotype is 46, XY.

Prenatal diagnosis

· In recent years, many men have been diagnosed with Klinefelter's syndrome before birth, through biopsy of villus sampling, amniocentesis or funiculocentesis. These samples are obtained fetal cells for karyotype determination. None of these procedures are usually used except when there is a family history of genetic defects, or when screening for malformations is performed during the pregnancy is detected a high risk of genetic defects in the fetus.

Is it hereditary Klinefelter Syndrome?

· While the cause of this condition is the presence of an extra copy of the X chromosome, Klinefelter Syndrome is not inherited. This syndrome is usually the result of a random event that occurs during the formation of reproductive cells (eggs and sperm) called meiosis. An error in a reproductive cell division called nondisjunction (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 a sperm can have one or more copies extras of the X chromosome, as a result of the nondisjunction .
· Apparently there are some risk factors that have been associated with these events, such as the advanced maternal age, increasing the risk of emergence of the syndrome. On the other hand, it has been suggested that in more than half of the cases it is the father that provides the extra copy of the X chromosome.
· The mosaic case with a karyotype 46, XY/47, XXY is not hereditary. It occurs as a random event during cell division in the early development of the fetus. As a result, some of the cells of the body have an X chromosome and a chromosome (46, XY), and other cells have an extra copy of the X chromosome (47, XXY).

Prognosis and treatment of Klinefelter's syndrome

Klinefelter Syndrome is a chromosomal problem, there is no treatment for the disease, but yes most of the symptoms can be treated.
In general the prognosis of Klinefelter Syndrome is good, provided the patient is under strict medical monitoring, enabling early treatment of any problems that occur. Many men with affected with this syndrome manage to lead a normal and active life.
However, patients with Klinefelter's syndrome have an increased risk for certain diseases, such as: diabetes type 1, lupus, hypothyroidism, male breast cancer, lymphoma non-Hodgkin's, obesity, and osteoporosis. For this reason the doctor can program certain diagnostic tests such as blood glucose, thyroid hormones, breast ultrasound, etc., to detect in time the problems above.
Because of these diseases and their complications, a person with Klinefelter Syndrome may have increased risk of early death.

Use of testosterone

Ideally, males with Klinefelter Syndrome to begin treatment with testosterone as soon as they enter puberty, although those diagnosed in adulthood may also benefit from treatment with this hormone.
A scheme of regular application of injections of testosterone will produce: increase strength and muscle size, and growth of facial and body hair.
In addition to these physical changes, testosterone injections often cause physiological changes. As they begin to develop a more masculine appearance, males with Klinefelter Syndrome often increase their self-esteem. Many become more dynamic and energetic, improve mood and general mood. Something very important, because, as a group, children 47, XXY tend to suffer from depression, mainly because of their school difficulties and adjustment problems with other children of the same age.
Other testosterone benefits include a reduced need for sleep, a greater ability to concentrate and improve the relationships with others.

Treatment of endocrine problems

As for the rest of typical problems associated with this syndrome, they can address follows:
  • Control of body weight and obesity by diet, periodic exercises.
  • If you have high levels of cholesterol or triglycerides in blood you can add some medications such as simvastatin and atorvastatin.
  • If you have high levels of blood sugar or insulin resistance you can use drugs such as metformin or even regular doses of insulin.
  • If you have osteoporosis must consume dairy products rich in calcium and according to medical indication supplements of calcium plus vitamin D (more information about nutrition in osteoporosis).
  • Thyroid problems may require the use of thyroid replacement hormones.
  • If Gynecomastia (breast augmentation) is very pronounced can consider the possibility of reducing cosmetic surgery of the breast, as the breast.
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