Monday, January 5, 2015

What Is Turner Syndrome ?

Turner syndrome is a chromosomal abnormality. It only occurs in women and is also described in mice and horses. Turner is caused by non-disjunction of the chromosomes that determine the gender. This deviation occurs in about 1 in 2,500 girls.

Introduction


Under normal circumstances, the human race is determined by a combination of two chromosomes: XX for women, XY for men. Turner's syndrome means that one of the two X-chromosomes is missing part or in total (X0). Since only cells with a Y-chromosome are not viable, Turner's syndrome does not occur in men. Also in female fetuses is the number of miscarriages, in the case of Turner syndrome high; a total of Turner's syndrome leads in 99% of the cases to a spontaneous abortion. It is believed that to Turner's syndrome related abnormalities in the genetic material of the fetus are the ultimate cause of about 10% of all miscarriages. However, there are no hard data to support that.

In cases where a girl is born with Turner syndrome, it is likely that it will exhibit some symptoms - differ widely in nature and severity. Symptoms change from person to person, but the most common symptoms are:

-Short stature (less than 1.50 meters)
-Lymphedema or swelling of hands and feet
-A broad chest and widely spaced nipples
-A low hairline
-Low set ears
-Heart problems
-Kidney problems
-Puberty does not spontaneously started

Other known symptoms are a smaller jaw, cubitus valgus (outstanding elbows), skin folds in the neck and soft, upstanding nails.

Turner syndrome occurs in two variants. In the classical variant is missing one of the two X chromosomes completely. In the mosaic variant some cells and other cells possess or do not have a second X chromosome. In the latter variant, the symptoms are often mild.

There are no known risk factors for or Turner syndrome.

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Medical consequences of Turner's syndrome


Most presentations of Turner syndrome are harmless. However, some can have serious medical consequences.

Heart
At 20 to 50% of girls with Turner's syndrome is determined a deviation in the construction of the heart at birth. The heart disease is the most common is a narrowing of the aorta, the main artery, just after the big bend of the aorta (coarctation of the aorta). In addition, there may be an abnormality of the heart valves.

In order to prevent inflammation of these valves, it is important that antibiotics are used in surgical procedures. This also applies to minor procedures such as tooth extraction. The severity of defects is different from child to child.

Bone
As a result of Turner's syndrome are developed a lot of factors - mainly hormonal - that the normal development of the skeleton are in the way. In women suffering from Turner's syndrome is the head, neck and chest of normal size but they clearly have shorter arms and legs. The average length of a woman with Turner syndrome is 140 centimeters. By starting young with growth hormones may grow in length between 10 and 15 centimeters.

The fourth metacarpal bone (fourth toe and ring fingers) can be remarkably short.

And as a consequence of the poor circulation of estrogen found in the body, many women with Turner syndrome suffer from osteoporosis. This enables them to be made shorter, and moreover, can further touch the curved spine, which scoliosis may occur. As a result bone fractures may easily occur.

Reins
Approximately one third of all women with Turner's syndrome suffer from any of the following three kidney abnormalities:

-A single, horseshoe kidney-shaped on one side of the body and the absence of a kidney to the other side.
-An abnormal system for the drainage of urine.
-Poor blood flow to the kidneys.

Some of these problems can be corrected with surgery. Even in the case of these abnormalities is the function of the kidneys most of the women with normal Turner's syndrome. Kidney problems, however, can cause problems with blood pressure, the body secretes too little moisture which can cause high blood pressure.

Thyroid gland
About a third of all women suffering from Turner, is a disorder of the thyroid gland. Usually this is hypothyroidism (insufficient secretion of hormones by the thyroid gland causing the metabolism is slower than normal), particularly the Hashimoto's disease.

Diabetes
Women with Turner syndrome during their youth a slightly increased risk of type 1 diabetes later in life and a greatly increased risk of type 2 diabetes.

Mental
Turner syndrome does not cause learning or mental impairment or disturbance of the mind. Well affected women may have difficulty seeing through spatial relationships. Of these, they may suffer in the development of motor skills or mathematics, also has a part of the women who suffer from the syndrome difficulty in planning and organization, this kind of problem occurs not only for under the Turner's syndrome, but also among, for example, ADHD (hyperactivity) or example, NLD (non-verbal learning disabilities). These problems can not be solved, but for most people not serious. Women with Turner syndrome do have good language skills.

Propagation
Women with Turner syndrome are almost always infertile. There have been cases of patients who were pregnant, but they are very rare. By administering hormones that promote the development of reproductive organs related to the time of puberty should begin it is a normal development of secondary sex characteristics.

Remedies



Turner syndrome is a genetic disease and there is no cure for. However, much can be done about the symptoms. For Example:

-When the diagnosis is made in time, a girl with Turner syndrome nowadays almost always from about the 6th year of life treated with growth hormones.
-From the age of 12 to 13 is started with a treatment with female hormones --oestrogenen, usually in combination with progestagenen-- to bring the puberty in motion. Usually uses the regular birth control pills, but sometimes natural hormones. The administration of estrogen is described already applied since Henry H. Turner in 1938 for the first time this syndrome. It is done primarily in order to promote the development of the female form and the menstrual cycle. Estrogen is an important factor in the prevention of osteoporosis (bone resorption) and plays an important role in a variety of other biochemical processes.
-Through in vitro fertilization (IVF) in combination with egg donation can be artificially achieved a pregnancy state. A child in this manner, however, will never be the genetic born child of a woman with Turner's syndrome.

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