Klinefelter’s syndrome – a genetic condition that one can live with

Klinefelter’s syndrome is a genetic condition suffered by males only. Featuring this case the presence of chromosome X additional. The presence of this pigment additional prevents the development of appearance of sexual characteristics of male that appears in the stage of sexual maturity.

Featuring Klinefelter’s syndrome a set of rows that appear on male designers, including this page some physical characteristics of the female such as the expansion of the hips, growth of breasts (gynecomastia) and narrow shoulders, in addition to the lack of development of the gonads, could be suffering from mental retardation and becomes his body fight injury many chronic diseases such as diabetes.

At the present time, there is no cure for Klinefelter’s, but there are many remedies available that help to relieve the accompanying symptoms, and this in turn can mainly help in improving the lives of patients.

متلازمة كلاينفلتر

Chromosomes of human (chromosomes)

There are in the nucleus of every cell of the human body proper 23 pairs of chromosomes, 22 pairs of which allow chromosomes that physical be responsible for determining the physical qualities of the individual, and one pair of sexual be responsible for determining the sex of the individual,

When there is any abnormality in the chromosome number from an individual, as in our case where the bank has 3 chromosomes nationality must be of two, it will suffer from numerous imbalances.

Think chromosomal sex is an important and necessary, as we have said, is responsible for determining the sex of the individual, when the female is proper, there is in every cell of their chromosomal gender, Two Only, the two are alike, scientists call on each chromosomal sex when the female is name “chromosome X”. Have good taste and also chromosomal gender, Two Only in each cell of his body, but these see not the same, the chromosome is first chromosome X, in the so-called chromosome II “Y chromosome”.

In some cases, can be individual is suffering from a problem in the chromosomes, these problems are genetic, in some cases, limited to changes in the structure of the chromosomes, in the A be other changes common change in chromosome number, including genetic diseases caused by the change of the number of chromosomes mention Klinefelter’s syndrome andTurner’s syndrome syndrome trisomy X syndrome, duplication of chromosome Y.

What are the syndrome of Klinefelter is?

Klinefelter’s syndrome is a hereditary condition afflicting only males, in which the bank has the 3 chromosomal sex, the further pigment is a pigment X which makes the number of chromosomes the total of the individual 47 chromosomes, and 22 pairs body and 3 chromosomal sex XXY.

How widespread is this condition genetic?

It is estimated that Klinefelter’s syndrome appear on one male born of every 500 male, the other estimates to the presence of recorded cases among every 1,000 births, these estimates are inconsistent due to a number of designers can suffer from this genetic disorder without showing obvious symptoms of them, can be delayed and these symptoms do not appear only in adulthood.

Reasons

The reason that leads to Klinefelter’s syndrome is the presence of the chromosomal sex of an additional X-type when infected males, and this occurs to a genetic defect is not known the exact cause, most of with Down syndrome are born wives and mothers are healthy and do not suffer from any hereditary diseases.

Why some are born male with X chromosome extra?

The answer to this question is very complicated, in fact, most scientists believe that this genetic disorder starts during the period of the fair split, which leads to the formation of weddings, or during the split of a fertilized egg (i.e. embryo).

Fair split is a process in some of the cells in the body that contain 46 chromosomes, which helps in giving cells known as weddings, which contain 23 chromosomes, weddings, males are called spermatozoa or sperm, the weddings, when the women, the same name of the OVA, we know that the union between a sperm (23 chromosomes) Ovum (23 chromosomes) leads to the formation of what is known of eggs fertilized, and (46 chromosomes).

متلازمة كلاينفلتر - عدم افتراق الصبغيات

This picture shows the process of separation of chromosomes during division of the mediastinum. Notice how that one of the resulting cells carry the chromosome of type X. If this cell is the one that uses the egg or if the egg itself, they will lead to genetic abnormalities.

Some patients with Klinefelter’s syndrome have a genetic combination that consists of 47 chromosomes, and chromosomes sexual XXY. There are other patients, they have the genetic combination are mixed, i.e., some cells contain 47 chromosomes and a chromosomal sex XXY, in are unlike other they have a completely intact, i.e., they contain 46 chromosomes, and the sex chromosomes XY. Called this case the name “mosaic gene”.

What is the explanation for this difference?

This is about the moment in which the cell genetic and non-separation of chromosomes nationality:

If you happened not to of separation during the stage of division of the mediastinum, which leads to the formation of weddings (sperm and OVA), will be genetic disorder in all the cells of the body of the patient, ie it will have in all the cells of his body genetic combination consists of 47 chromosomes, and chromosomes sexual XXY.

In the second case, be weddings (sperm and eggs) completely intact and has a normal number of chromosomes, but the cell and the separation occurs during the split of the fertilized egg. Any during the course of cell division of the fetus. This means that the embryo will contain some cells had 47 chromosomes, and the chromosomes sex XXY, and the other cell has a perfectly intact, i.e., they contain 46 chromosomes, and the sex chromosomes XY.

Other cases syndrome Klinefelter

There are some very rare cases of individuals with Down’s syndrome Klinefelter, these patients can contain the cells of their body on a greater number of chromosomes nationality, from examples:

  • 48 chromosomes, and chromosomes sex XXXY
  • 49 chromosome, and chromosomes sex XXXXY
  • 48 chromosomes, and chromosomes sexual XXYY
  • 49 chromosome, and chromosomes sex XXXYY

This genetic condition is rare too, and probably associated with the malfunction of my body, and in addition to severely impaired mental capacity.

Symptoms

Usually start symptoms of Klinefelter’s syndrome appear during the stage of sexual maturity for males, where sufferers from sluggish in the development and growth of sexual significantly, and the clinical manifestations of the most common include:

  • Failure in the growth of the gonads (the testes size small).
  • Non-appearance of the sexual characteristics of the male clearly.

In most cases, does not appear infected no symptoms before adulthood, the diagnosis of this syndrome to be very rare in childhood or before puberty, sexual, and family members can be notice any symptoms or clinical manifestations refer to the suffering of their child from this genetic condition.

The symptoms before adulthood

Tags that appear before adulthood is rare and clear and can be distinguished in most cases, they include:

  • Learning difficulties and attention deficit.
  • Mental retardation.
  • Muscle weakness compared with other children of the same age.
  • Difficulty in reading, pronouncing words, phrases, or coordinating movements.
  • Difficulty in speaking and giving a speech.
  • The delay in walking and doing the first steps.
  • The lack of coordination capacity in the various areas of coordination.
  • Tends the child to the insular and introverted and feel insecure.
  • The child appears immature compared with other children of the same age.

Symptoms during adulthood and then

Often show symptoms of Klinefelter’s syndrome is clearly the most patients at the stage of sexual maturity, which include clinical symptoms as follows:

  • Hypogonadism small testes size. (90 % of Egyptians)
  • The contract because of a change in the sperm or inability of sperm production. (90 % of Egyptians)
  • Problems in the secretion of testosterone. (90 % of Egyptians)
  • Weakness or lack of growth of facial hair and pubic and armpits. (60 % of Egyptians)
  • Gynecomastia (growth of breasts). (60 % of Egyptians)
  • Erectile dysfunction lack of sexual desire. (50 % of Egyptians)
  • Poor development of the penis. (20 % of Egyptians)
  • Disability intellectual. (10 – 20 % of Egyptians)

In addition to these symptoms, can appear on the infected syndrome Klinefelter some page like:

  • Obesity or overweight.
  • Lethargy and the desire for freedom.
  • The growth of the upper and lower extremities disproportionately with the rest of the parts of the body.
  • Have a body shape similar to The Shape of the female body (shoulders, narrow hips, broad two).

Mental disorders

One of the most important aspects that should be taken into account in Klinefelter’s syndrome is the psychological aspect and the psychological state of patients, because symptoms of the disease, can cure patients of depression as a result of differences from others, and can tend to:

The lack of development of the gonads and impaired libido and gynecomastia are the symptoms that cause most of the psychological problems suffered by patients with Klinefelter’s syndrome.

Complications

Can patients some complications because of the hormonal changes that affect the hormone testosterone. In fact, causes a deficiency of the secretion of the hormone testosterone in the high levels of blood cholesterol and increases the probability of infection with osteoarthritis. Also, people who suffer from Klinefelter’s syndrome are at risk of breast cancer more than others.

As to the suffering of the Egyptians from diabetes is a common occurrence when a lot of them.

The following are the most important complications and diseases that can afflict the Egyptians syndrome Klinefelter:

Diagnosis

To determine whether a person suffers from the presence of chromosome X additional, want to check Jenny. In this examination, is to determine the number of chromosomes the individual, can perform this test on the embryos by taking a sample of amniotic fluid or a sample of fetal blood.

This test is considered the only one who can determine the number of chromosomes and make sure that the individual suffering from Klinefelter’s syndrome or not, it helps confirm it even before puberty, i.e. before the onset of symptoms to the source.

The disease can be diagnosed primarily through the assessment of symptoms that appear during adulthood, but should always conduct genetic screening to rule out any other possible causes may lead to this,

Other tests

Besides the genetic testing, can do other tests to evaluate and diagnose the patient’s condition, these tests include analysis of blood, urine and a biopsy of the testis determining bone density:

  • Performed analysis of blood and urine to assess the work of the gonads and determine the levels of the hormone testosterone.
  • Testicular biopsy is a procedure to help detect any changes on the sperm. It’s a safe and easy procedure and can be done under local anesthesia and there is no need to stay in hospital for biopsy.
  • A bone mineral density test to assess the patient’s condition and determine whether suffering from osteoporosis.

Physical tests

Doctors also conduct some physical tests, including:

  • Determine the size of the testicles to detect hypogonadism.
  • Assessment of rate of hair growth on the face, armpits and pubis.

Treatment

Because Klinefelter’s syndrome is a hereditary condition, it does not stop the relationship once and for all, and elements therapeutic action on some measures aimed at reducing the symptoms and improving the patient’s life in general, of these measures, for example:

  • The reduction of hypogonadism and corrected
  • Reduce the development of gynecomastia
  • Increase fertility
  • Hormone therapy

Depends hormonal treatment testosterone is the primary therapy available for most patients with Klinefelter. This helps in increasing the levels of testosterone, which helps reduce the effects caused by the presence of chromosome X additional.

Hormone therapy testosterone only starts when the patient arrives at adulthood, and has forced the patient to continue to receive this therapy throughout his life.

Raised hormone therapy testosterone

Therapy helps hormone testosterone in improving the patient’s condition from several aspects, including:

  • Increase muscle strength
  • To stimulate hair growth in the facial area and pubis and armpits
  • Increased libido
  • Increase the size of the testes and hypogonadism
  • To reduce the likelihood of developing osteoporosis
  • Reducing the rate of blood cholesterol

Is hormone therapy testosterone dose from 250 mg of this hormone take usually every 3-4 weeks

Treatment of the physical qualities of the female

Patients with Down’s syndrome Klinefelter of the problem of the growth of breasts and the appearance of the qualities of the body of the feminine, this can cause a feeling of depression and treatment may make the patients cliquey and are in isolation from the others, therefore, can resort to surgical treatments aim to reduce the size of the breast by excision of some of the fatty tissue.

The treatment of infertility caused by Klinefelter’s syndrome

If the desire of the patient who suffers from Klinefelter’s syndrome in children, we must first consult a specialist in genetic diseases and infertility in men.

The doctor will specialist in genetic diseases evaluated the patient’s condition and determine if there is a possibility that convey the disease to their children, in the nature of male infertility assessment of the specificity of the patient and the health of the sperm and composition, so as to improve the possibility of pregnancy.

If the number of sperm and composition suitable for impregnation of the egg, you can do one of two procedures:

  • In vitro fertilization (IVF)
  • Injection of sperm within the cells (ICSI) in the oocyte

Psychotherapy

The psychological aspect is very important. Therapy helps hormone testosterone and surgical to assess the growth of the breasts increased sexual capabilities, fertility, improve self-esteem. This makes the patients are able to overcome the feeling of exclusion from social life and relationships with others.

Other treatments

Can appear some symptoms on the injured even before adulthood. This imposes requirements other treatment to improve these symptoms, such as:

  • Treatment language to improve ability in expression and speech.
  • Physiotherapy to improve the ability of coordination.
  • Relationship specialist to improve reading ability.

Warning

The hormonal treatment of patients with Down’s syndrome Klinefelter is essential and should be starting out in time to avoid the development of symptoms, delay in treatment can cause the lack of development of the testes and symptoms with time and are not treatable or reversible.

Source

https://www.my-personaltrainer.it

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