Turner syndrome or Ullrich-Turner syndrome is due to an X chromosomal abnormality that manifests primarily by short stature and failure to reach puberty. Turner syndrome affects almost exclusively girls (about 1 in 3000).
What is Turner syndrome?
Turner syndrome is the name given to a gonadal dysgenesis (absence of functional germ cells) that is usually due to a missing X chromosome (monosomy X) or chromosomal abnormalities, and which may affect almost exclusively females. The chromosomal abnormalities present in Turner syndrome cause a deficiency of growth and sex hormones. Symptomatically, the disease manifests itself externally by early onset lymphedema, short stature, pterygium colli (bilateral skin folds in the neck), shield thorax with widely spaced nipples. In addition, Turner syndrome is characterized by absence of menstruation (primary amenorrhea), underdevelopment of the breast and ovaries (gonadal streaks), and infertility due to underdeveloped ovaries. In addition, girls affected by Turner syndrome show unimpaired intelligence development.
Causes
Turner syndrome is due to specific genetic abnormalities. Healthy individuals have 23 pairs of chromosomes, with one pair of chromosomes composed of each of the sex chromosomes (XX and XY, respectively). In Turner syndrome, an abnormality is present with regard to this chromosome pair, which can manifest itself in different ways. On the one hand, one X chromosome may be missing (monosomy X), so that each body cell has only one X chromosome. Secondly, the second X chromosome may be partially absent, so that cells with complete and incomplete genetic information are present at the same time (mosaicism). Thirdly, the second X chromosome may be present with negatively affecting structural changes that cause Turner syndrome. The chromosome 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. The exact triggers for the maldistribution are not yet known. However, inheritance of this maldistribution is ruled out.
Symptoms, complaints, and signs
Turner syndrome results in numerous symptoms, which occur in various forms and are dependent on the age of the patient. A typical sign is short stature, which becomes apparent at birth. The girls’ weight and height are below the norm. Another characteristic symptom is underdeveloped ovaries, which cause decreased production of female sex hormones. As a result, puberty is absent and menstruation does not occur. Breasts and genitals are underdeveloped and appear childlike even in adulthood. Fertility is limited, and pregnancy is often not possible. Other organs may 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 cause an aortic aneurysm to form. In newborns, fluid accumulation (edema) occurs on the hands and feet. The hairline is particularly low on the neck. On the neck, a wing-like looking fold of skin stretches from the bottom of the temporal bone to the scapula on both sides. Deformities of the ear and hearing loss occur. The thorax is deformed like a shield and the reduced nipples are widely spaced. Numerous moles are found on the skin. Malformed elbow joints cause abnormal position of the forearm. Mental development is not impaired in Turner syndrome.
Diagnosis and course
Turner syndrome is usually diagnosed on the basis of the characteristic externally recognizable symptoms immediately after the child’s birth. For example, newborns affected by Turner syndrome exhibit lymphedema as well as pterygium colli (bilateral folds of skin on the neck). Similarly, lower weight and height may indicate short stature. The diagnosis is confirmed by chromosomal analysis, which can determine the underlying genetic abnormality. This is also possible within the framework of prenatal diagnostic procedures.The course of the disease in Turner syndrome depends on the extent to which the existing deficiency of sex and growth hormones can be compensated therapeutically. If the therapy is successful, the affected child will develop as normally as possible, although it will remain infertile and short in stature. Individuals affected by Turner syndrome have a normal life expectancy.
Complications
Turner syndrome causes various complications and symptoms in affected individuals. First and foremost, the syndrome results in significant short stature. This has a very negative effect on the quality of life of the affected person and can significantly reduce it. Furthermore, Turner syndrome leads to menstrual irregularities and a lack of bleeding in women. Irritability or severe mood swings may also become apparent. Girls may also fail 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 suffer from psychological complaints or depression. Discomfort in the feet or hands may also occur with this condition. Due to the high number of moles, the patient may also experience decreased aesthetics. The treatment of Turner syndrome always depends on the exact symptoms. They can be limited, but not completely cured. Complications do not occur. As a rule, those affected can also lead an ordinary everyday life. Turner syndrome does not negatively affect the life expectancy of the affected person. In this process, the parents or relatives may also suffer from psychological discomfort or depression and therefore also require psychological care.
When should one go to the doctor?
The affected person always needs medical treatment for Turner syndrome to prevent further complications and discomfort. Only early diagnosis and subsequent treatment can also prevent further worsening of the symptoms. Since it is a genetic disease, there is also no complete cure. If the patient wishes to have children, genetic counseling should be performed to prevent the recurrence of the disease. A doctor should be consulted if the child suffers from short stature. This can usually be detected by eye. The weight of the affected children is also usually reduced due to Turner syndrome. Some patients also suffer from reduced fertility due to the disease, but this only becomes apparent later in life. Since Turner syndrome can also lead to a malformation of the heart, the heart should also be examined regularly by a physician. Furthermore, various facial malformations also indicate this syndrome and should be examined by a physician. In most cases, Turner syndrome can be detected by a pediatrician or by a general practitioner. Further treatment depends greatly on the exact manifestation and nature of the symptoms.
Treatment and therapy
Therapeutic measures in Turner syndrome are primarily aimed at compensating for the present deficiency in growth and sex hormones. Thus, affected individuals receive biosynthetically produced growth hormones to positively influence body size from about the age of six. However, the success of such growth therapy varies from person to person. From the age of twelve, additional sex hormones such as estrogen are used to induce puberty, which would otherwise be absent in Turner syndrome, by means of medication and hormones, so that the primary (uterus or uterine) and secondary sex characteristics (breast, labia, vagina) can develop as normally as possible. The underdevelopment of the ovaries (ovarian insufficiency) cannot be compensated for by hormone therapy, which is why the affected women remain infertile. In some cases, however, attempts have been made to perform in vitro fertilization using oocytes retrieved before the loss of ovarian function. However, these are still at an early stage of clinical testing. In addition, therapy with growth and sex hormones is used to prevent osteoporosis. In addition, accompanying symptoms such as lymphedema can be treated by lymphatic drainage.If malformations of internal organs such as the heart or kidneys are present, surgical intervention may be indicated. In some cases, psychotherapeutic care is recommended for girls affected by Turner syndrome and their parents.
Prevention
Because the underlying causes of chromosomal abnormality in Turner syndrome are unknown, no reliable preventive measures exist. However, prenatal diagnostic procedures can already test the unborn child for a chromosomal abnormality indicative of Turner syndrome.
Follow-up
Turner syndrome is a genetic chromosomal disorder. For this reason, the disease is not curable. Affected individuals are dependent on medical treatment for the rest of their lives, as further health problems can often occur. Therefore, no classical aftercare measures are necessary or possible. In the transition period during puberty, most patients receive intensive hormone therapy. After completion of this therapy, patients should attend regular check-ups with their specialist, endocrinologist, and family doctor, as needed. Especially in the case of existing heart and kidney defects or other diseases, it is necessary to seek regular medical care. Provided there are no health problems, such check-ups should take place at least every one to five years, depending on the patient’s clinical picture and age. This is decided in each case by the clinic treating the patient. To date, there is no mature and generally valid concept in medicine for the care of adult patients with Turner syndrome. Therefore, the procedures for follow-up care can vary widely. Many affected women with Turner syndrome also suffer from severe psychological problems. For this reason, it is recommended to seek psychotherapeutic help or regularly attend a support group for affected individuals, regardless of their physical condition.
What you can do yourself
Children who have Turner syndrome need assistance with everyday tasks. Parents need to ensure that the child receives the best possible treatment and takes medications as prescribed. Good medical monitoring is especially important before puberty so that hormonal changes can be optimally managed medically. If signs of osteoporosis, circulatory disorders or other typical concomitant diseases of Turners syndrome appear, a visit to the doctor is indicated. Patients themselves must pay attention to a healthy and balanced diet in order to prevent diseases such as diabetes mellitus or Crohn’s disease. In sick infants, parents must pay careful attention to the child’s food intake, as vomiting and loss of appetite occur as a result of the condition. Size growth can be supported by exercise and a complete diet. It is particularly important to provide proteins, vitamins and minerals in order to relieve the gastrointestinal tract, improve bone health and build up sufficient fat and muscle mass overall. Dietary supplements may need to be taken and hormonal treatments may be needed. It is best for the parents and later the sufferers themselves to create an illness diary in which all symptoms and abnormalities are noted.
