Turner syndrome or Ullrich-Turner syndrome is due to an X chromosome abnormality, which primarily manifests itself in the form of short stature and the absence of puberty. Turner syndrome almost exclusively affects girls (about 1 in 3000).
What is Turner Syndrome?
Turner syndrome is a gonadal dysgenesis (absence of functional germ cells), which is usually due to a missing X chromosome (monosomy X) or chromosomal anomalies and which can almost exclusively affect women. For igg4-associated autoimmune diseases explained, please visit psyknowhow.com.
The chromosomal abnormalities present in Turner syndrome cause growth and sex hormone deficiency. Symptomatically, the disease manifests itself externally in the form of early-onset lymphedema, short stature, pterygium colli (skin folds on both sides in the neck area), thorax with widely spaced nipples.
In addition, Turner syndrome is characterized by a lack of menstruation (primary amenorrhea), underdevelopment of the breasts and ovaries (gonadal streaks or connective tissue strands) and infertility ( infertility ) as a result of the underdeveloped ovaries ( ovaries ).
In addition, girls affected by Turner syndrome have an unimpaired development of intelligence.
Turner syndrome is due to specific genetic changes. Healthy people have 23 pairs of chromosomes, with each pair of chromosomes being composed of the sex chromosomes (XX or XY).
In Turner syndrome, there is an abnormality in this pair of chromosomes, which can manifest itself in different ways. On the one hand, an X chromosome can be missing (monosomy X), so that each body cell has only one X chromosome. On the other hand, the second X chromosome can 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 be present with adverse structural changes that cause Turner syndrome.
The chromosomal anomalies mentioned are due to a disturbed chromosome distribution within the first cell division phases or during the formation of the germ cells after fertilization, although the exact triggers for the faulty distribution are not yet known. However, an inheritance of this maldistribution is ruled out.
Symptoms, Ailments & Signs
Turner syndrome leads to numerous symptoms that come in different forms and occur depending on the age of the patient. A typical sign is short stature, which is already evident at birth. The girls are below the norm in terms of weight and height. Another characteristic symptom is underdeveloped ovaries, which cause reduced production of female sex hormones.
As a result, puberty does not occur and there is no menstruation. Breasts and sexual organs are underdeveloped and appear childish even in adulthood. Fertility is limited, pregnancy is often not possible. Other organs can also be malformed. In many cases, there is a horseshoe kidney, in which both kidneys are connected.
The heart often lacks a valve leaflet on the aortic valve, which can lead to the formation of an aortic aneurysm. Fluid buildup (edema) occurs in the hands and feet of newborns. The hairline is particularly deep at the nape of the neck. On both sides of the neck, a wing-like skin fold stretches from the lower end of the temporal bone to the shoulder blade.
Ear malformations and hearing loss occur. The chest is deformed like a shield and the reduced nipples are far apart. There are numerous liver spots on the skin. Malformed elbow joints cause an abnormal position of the forearm. Mental development is not impaired in Turner syndrome.
Diagnosis & History
Turner syndrome is usually diagnosed based on the characteristic outwardly visible symptoms immediately after the birth of the child. Newborns affected by Turner syndrome have lymphedema and pterygium colli (skin folds on both sides of the neck).
Likewise, lower weight and height can indicate short stature. The diagnosis is confirmed by a chromosome analysis, in which the underlying genetic anomaly can be determined. This is also possible in the context of prenatal diagnostic procedures. The course of the disease in Turner syndrome depends on the extent to which the existing lack of sex and growth hormones can be compensated for therapeutically.
If the therapy is successful, the affected child will develop normally as far as possible, although it will remain sterile and undergrowth. Those affected by Turner syndrome have a normal life expectancy.
Turner syndrome leads to various complications and symptoms in those affected. First and foremost, the syndrome leads to a significant short stature. This has a very negative effect on the quality of life of those affected and can significantly reduce it. Furthermore, Turner syndrome in women leads to menstrual disorders and a lack of bleeding.
Irritability or strong mood swings can also become apparent. The girls are also unable to reach puberty and suffer from infertility. Especially at a young age, the symptoms of Turner syndrome can lead to bullying or teasing, so that those affected also develop psychological problems or depression.
Discomfort in the feet or hands can also occur with this disease. Due to the high number of liver spots, there can also be reduced aesthetics in the patient. Turner syndrome treatment is always based on the exact symptoms. They can be limited, but not completely healed.
There are no complications. As a rule, those affected can lead a normal everyday life. Turner syndrome does not negatively affect the life expectancy of the affected person. Parents or relatives can also suffer from psychological problems or depression and therefore also need psychological care.
When should you go to the doctor?
The person affected with Turner syndrome is always dependent on medical treatment to prevent further complications and symptoms. Only early diagnosis and subsequent treatment can prevent the symptoms from getting worse. Since this is a genetic disease, it cannot be completely cured. If you wish to have children, genetic counseling should be carried out to prevent the disease from recurring. A doctor should be consulted if the child suffers from short stature. This can usually be seen with the naked eye.
The weight of the affected children is usually reduced by Turner syndrome. Some patients also experience reduced fertility as a result of the disease, but this does not manifest itself until later in life. Since Turner syndrome can also lead to a malformation of the heart, the heart should also be examined regularly by a doctor. Furthermore, various malformations on the face also indicate this syndrome and should be examined by a doctor. Turner syndrome can usually be diagnosed by a pediatrician or general practitioner. Further treatment depends heavily on the exact severity and type of symptoms.
Treatment & Therapy
In the case of Turner syndrome, the therapeutic measures are primarily aimed at compensating for the existing lack of growth and sex hormones. From about the age of six, those affected receive biosynthetically produced growth hormones to positively influence their height.
However, the success of such growth therapy varies from person to person. From the age of twelve, sex hormones such as estrogen are also used to induce puberty, which otherwise does not occur with Turner syndrome, so that the primary (uterus or uterus ) and secondary sex characteristics (breast, labia, vagina) are largely normal can train.
The underdevelopment of the ovaries (ovarian insufficiency) cannot be within the framework of hormone therapy, which is why the affected women remain infertile (infertile). compensated, which is why the affected women remain infertile (infertile). In individual cases, however, attempts have been made to carry out artificial insemination within the framework of in-vito fertilization using egg cells removed before the ovaries lost their function. However, these are still in an early clinical phaseTesting.
In addition, therapy with growth and sex hormones serves to prevent osteoporosis. In addition, accompanying symptoms such as lymphedema can be treated with lymphatic drainage. If there are malformations of internal organs such as the heart or kidneys, surgical intervention may be indicated. In some cases, psychotherapeutic care is recommended for girls affected by Turner syndrome and their parents.
Since the underlying causes of the chromosomal abnormality in Turner syndrome are not known, no reliable preventive measures exist. However, as part of prenatal diagnostic procedures, the unborn child can already be tested for a chromosomal abnormality indicative of Turner syndrome.
Turner syndrome is a genetic chromosomal disorder. For this reason, the disease cannot be cured. Those affected are dependent on medical treatment for the rest of their lives, as other health problems can often arise. Therefore, no classic aftercare measures are necessary or possible.
During the transition period during puberty, most patients receive intensive hormone therapy. After completing this therapy, those affected should have regular check-ups with their specialist, endocrinologist and family doctor, as required. In particular, if you have heart or kidney defects or other diseases, it is necessary to seek medical care on a regular basis.
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. The treating clinic decides on this. So far, there is no mature and generally valid concept for the care of adult patients with Turner syndrome in medicine.
As a result, follow-up procedures can vary widely. Many affected women with Turner syndrome also suffer from severe psychological problems. For this reason, it is advisable to seek psychotherapeutic help regardless of your physical condition or to regularly visit a self-help group for those affected.
You can do that yourself
Children with Turner syndrome need help with everyday tasks. Parents must ensure that the child is receiving the best possible treatment and is taking medication as prescribed. Good medical supervision is particularly important before puberty so that the hormonal changes can be optimally controlled medically.
If signs of osteoporosis, circulatory disorders or other typical concomitant diseases of Turner’s syndrome occur, a doctor’s visit is indicated. The patients themselves must ensure a healthy and balanced diet in order to prevent diseases such as diabetes mellitus or Crohn’s disease. In the case of sick infants, parents must carefully monitor the child’s food intake, as vomiting and loss of appetite occur as a result of the condition.
Height growth can be supported by exercise and a wholesome diet. Proteins, vitamins and minerals are particularly important in order to relieve the gastrointestinal tract, improve bone health and build up sufficient fat and muscle mass overall. If necessary, dietary supplements must be taken and hormonal treatments must be carried out. It is best for the parents and later those affected to keep an illness diary in which all symptoms and abnormalities are noted.