The Turner syndrome or Ullrich-Turner syndrome is due to an X chromosomal abnormality, which manifests itself primarily on the basis of a short stature and the absence of puberty. Turner syndrome affects almost all girls (about 1 in 3, 000).

What is Turner Syndrome?

Turner's syndrome is a gonadal dysgenesis (absence of functional germ cells), which is usually due to a lack of X chromosome (monosomy X) or chromosomal abnormalities and of which almost exclusively women can be affected.

The chromosomal abnormalities present in Turner syndrome cause a lack of growth hormones and sex hormones. Symptomatically, the disease manifests externally on the basis of early lymphoedema, dwarfism, pterygium colli (bilateral skin folds in the neck area), Schildthorax with widely spaced nipples (nipples).

In addition, Turner syndrome is characterized by a lack of menstruation (primary amenorrhoea), underdevelopment of the breast and ovaries (gonadal streaks) and infertility due to underdeveloped ovaries (ovaries).

In addition, girls affected by Turner syndrome have an unimpaired intelligence development.

causes

The Turner syndrome is due to specific genetic changes. Healthy people have 23 pairs of chromosomes, each composed of a chromosome pair of the sex chromosomes (XX or XY).

In Turner syndrome, there is an anomaly with respect to this pair of chromosomes that may manifest differently. On the one hand, an X chromosome may be missing (monosomy X), so that every body cell has only one X chromosome. On the other hand, the second X chromosome may be partially missing, so that cells with complete and incomplete genetic information are present at the same time (mosaic). Third, the second X chromosome may have negative structural changes that cause Turner syndrome.

The chromosomal abnormalities mentioned are due to a disturbed chromosome distribution within the first cell division phases or in the formation of the germ cells after fertilization, the exact cause of the maldistribution are not yet known. However, an inheritance of this maldistribution is excluded.

Symptoms, complaints & signs

The Turner syndrome leads to numerous symptoms, which occur in different forms and occur depending on the age of the patient. A typical symptom is the dwarfism that already shows at birth. The girls are below the norm with their weight and size. Another characteristic symptom is underdeveloped ovaries, which cause reduced production of female sex hormones.

This leaves puberty and there is no menstruation. Breasts and sexual organs are underdeveloped and have a childlike effect even in adulthood. Fertility is limited, often no pregnancy is possible. Other organs may be malformed. In many cases there is a horseshoe kidney in which both kidneys are connected.

Often, the heart is missing a valve leaflet on the aortic valve, which can form an aortic aneurysm. In newborns there are fluid accumulations (edemas) on the hands and feet. The hairline is particularly deep in the neck. On both sides of the neck a wing-like looking skin fold spans from the lower end of the temporal bone to the scapula.

Malformations of the ear and deafness occur. The thorax is deformed shield-shaped and the smaller nipples are far apart. There are numerous liver spots on the skin. Misformed elbow joints cause an abnormal position of the forearm. Intellectual development is not impaired in Turner syndrome.

Diagnosis & History

A Turner syndrome is usually diagnosed on the basis of the characteristic external symptoms immediately after the birth of the child. For example, Turner syndrome has neonatal lymphoedema and pterygium colli (bilateral fold on the neck).

Similarly, a lower weight and height may indicate a short stature. The diagnosis is confirmed by a chromosome analysis, in which the underlying genotype abnormality can be determined. This is also possible in the context of prenatal diagnostic diagnostic procedures. The course of the disease in Turner syndrome depends on the extent to which the present deficiency of sex hormones and growth hormones can be therapeutically compensated.

If successful, the affected child will develop as normal as possible, although it will remain infertile and inferior. Those affected by Turner syndrome have a normal life expectancy.

complications

The Turner syndrome leads to various complications and complaints in those affected. First and foremost, the syndrome causes a significant shortage of growth. This has a very negative effect on the quality of life of the person affected and can significantly reduce this. Furthermore, the Turner syndrome in women leads to cycle disorders and a lack of bleeding.

Irritability or strong mood swings may also become apparent. The girls can not reach puberty and suffer from infertility. Especially at a young age, the symptoms of Turner's syndrome can lead to bullying or teasing, so that sufferers also suffer from mental discomfort or depression.

Also complaints on the feet or on the hands can occur with this illness. Due to the high number of liver spots, it can also lead to a reduced aesthetics in the patient. The treatment of Turner's syndrome always depends on the exact symptoms. They may be restricted, but not completely cured.

Complications do not occur. As a rule, those affected can also lead an ordinary everyday life. The Turner syndrome does not affect the life expectancy of the person affected. The parents or relatives can also suffer from mental health problems or depression and therefore also need psychological support.

When should you go to the doctor?

The affected person always has to rely on medical treatment for Turner syndrome in order to prevent further complications and complaints. Only an early diagnosis and the subsequent treatment can prevent a further worsening of the symptoms. Because it is a genetic disease, it can not be completely cured. In the case of a desire to have a child, genetic counseling should be performed to prevent the recurrence of the disease. A doctor should be consulted if the child suffers from dwarfism. This is usually recognizable by eye.

The weight of affected children is usually reduced by the Turner syndrome. Some patients also suffer from limited fertility as a result of the disease, but this only becomes apparent later in life. Since the Turner syndrome can also lead to a malformation of the heart, the heart should also be examined regularly by a doctor. Furthermore, various malformations in the face also indicate this syndrome and should be examined by a physician. Most Turner's syndrome can be detected by a pediatrician or general practitioner. The further treatment depends strongly on the exact form and the type of the complaints.

Treatment & Therapy

Therapeutic measures in the case of Turner's syndrome are aimed primarily at balancing the current deficiency of growth hormones and sex hormones. For example, affected persons receive biosynthetically produced growth hormones from the age of six onwards to positively influence their body size.

However, the success of such growth therapy varies individually. From the twelfth year of life, sex hormones such as estrogen are also used to initiate drug-hormonal the otherwise missing in a Turner syndrome puberty, so that the primary (uterus or uterus) and secondary sexual characteristics (chest, labia, vagina) largely normal can train.

The underdevelopment of the ovaries (ovarian failure) can not be compensated in the context of a hormone therapy, which is why the affected women remain infertile (infertile). In individual cases, however, there have been attempts to carry out an artificial insemination with eggs taken before the loss of function of the ovaries in the context of in vitro fertilization. However, these are still in the early stages of clinical testing.

In addition, therapy with growth and sex hormones serves to prevent osteoporosis. In addition, concomitant symptoms such as lymphedema can be treated by lymphatic drainage. If there are malformations of internal organs such as the heart or kidneys, surgery may be indicated. In some cases, psychotherapeutic care is recommended for Turner syndrome girls and their parents.

prevention

Since the underlying causes of chromosome anomaly are not known in a Turner syndrome, there are no reliable preventive measures. In prenatal diagnostic procedures, however, the unborn child can already be tested for a chromosome anomaly indicative of Turner syndrome.

aftercare

Turner syndrome is a genetic chromosome disorder. The disease is not curable for this reason. Those affected are dependent on medical treatment throughout their lives, as more health problems can often occur. Therefore, no classic measures for aftercare are necessary or possible.

In the transition period during puberty, most patients receive intensive hormonal therapy. After completing this therapy, patients should, as needed, carry out regular check-ups with their specialist, the endocrinologist and the general practitioner. Especially in the presence of heart and kidney defects or other diseases, it is necessary to take regular medical care.

If no health problems occur, such check-ups should take place at least every one to five years, depending on the clinical picture and age of the patient. This is decided by the treating clinic. So far, there is still no mature and generally accepted concept for the treatment of adult patients with the Turner syndrome in medicine.

Therefore, aftercare procedures can be very different. Many affected women with Turner syndrome also suffer from severe mental health problems. For this reason, it is advisable, regardless of the physical condition, to seek psychotherapeutic help or regularly visit a self-help group for those affected.

You can do that yourself

Children who suffer from Turner syndrome need help with everyday tasks. Parents must ensure that the child receives the best possible treatment and takes the medication as prescribed. In particular, before puberty, a good medical monitoring is important so that the hormonal changes can be optimally controlled medically.

If signs of osteoporosis, circulatory disorders or other typical comorbidities of Turner's syndrome occur, a visit to the doctor is indicated. Patients themselves must ensure a healthy and balanced diet to prevent conditions such as diabetes mellitus or Crohn's disease. In sick infants, parents must pay close attention to the food intake of the child, as vomiting and loss of appetite occur as a result of the disease.

The growth in size can be supported by exercise and a wholesome diet. Especially important are proteins, vitamins and minerals to relieve the gastrointestinal tract, to improve bone health and build up overall fat and muscle mass. If necessary, dietary supplements must be taken and hormonal treatments performed. The parents and later those affected themselves best create a disease diary, in which all symptoms and abnormalities are noted.

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