Such a disease as Shereshevsky-Turner syndrome occurs mainly in girls and develops in the first trimester of pregnancy. It is caused by an anomaly of chromosomes, when the set of sexual glands is violated. This diagnosis is very rare, but you can not get rid of it.
Syndrome Shereshevsky-Turner - what is it?
Scientists have not yet discovered the relationship between the health of parents and the development of the child's illness, such as Turner's syndrome. It is also called Ulrich's syndrome. The condition of the expectant mother is complicated by the threat of miscarriage (they occur in the first or second trimester), a severe form of toxicosis, and births are often premature and have pathologies.
Newborn babies are completely viable, but have abnormalities. For the syndrome of Shereshevsky-Turner is characterized by:
- changes in elbow joints;
- pterygoid folds in the neck;
- the kidney is shaped like a horseshoe.
Syndrome Shereshevsky-Turner - karyotype
The human body is formed in the womb from one cell, which is called a zygote. It is formed after the fusion of 2 gametes carrying genetic information from their parents. These genes determine in the future the nature and health of the baby. A normal karyotype can have a set of chromosomes, such as 46XX or 46XU. If the process of gametogenesis is disturbed, then the embryo has deviations in development.
Karyotype of patients with Shereshevsky-Turner syndrome is a serious pathology when the X chromosome is absent or disturbed. This deviation is accompanied by a characteristic complex of changes in the body, and manifests itself in the inadequate development of the reproductive organs of the fetus. They do not contain an element of the gonads, there is a rudiment of the ovaries and the vas deferens.
Syndrome Shereshevsky-Turner - frequency of occurrence
This disease was first described in 1925. Shereshevsky-Turner syndrome occurs in a newborn girl of three thousand. The present population frequency of this disease is precisely unknown because of the spontaneous termination of pregnancy in various trimesters. In extremely rare cases, such a diagnosis is made for boys.
Syndrome Shereshevsky-Turner - the causes of
Answering the question about what causes Shereshevsky-Turner syndrome, it is necessary to say about the anomaly of the sex X chromosome. If it is changed, then in the body of the embryo occurs:
- a deletion of the long or short arm;
- isochromosome X on a short or long arm;
- translocation of X / X;
- ring X chromosome and so on.
Such pathologies occur in 20% of cases when there is mosaicism, for example, 45, X0 / 46, XY or 45, X0 / 46, XX. The mechanism of occurrence of the disease in men can be explained by translocation. The risk of developing the Shereshevsky-Turner syndrome is not related to the age of the future mother. It can happen:
- due to improper crushing of the zygote;
- with the loss of the paternal chromosome.
Syndrome Shereshevsky-Turner - symptoms
The disease can manifest both on the exterior and at the work of internal organs. When diagnosed as Shereshevsky-Turner syndrome, the symptoms may be as follows:
- lymphostasis;
- strabismus ;
- hypogonadism;
- short stature (the adult person does not exceed 150 cm);
- overweight;
- absence of phalanges;
- sexual infantilism;
- The thorax is enlarged and has a barrel shape;
- shortened neck;
- irregular shape of the auricles affecting the hearing;
- epicanthus or ptosis (eyelid deformation);
- pigment spots (vitiligo or nevi).
In newborn children, the feet, hands and skin folds on the neck can swell, and hair does not grow. The bones of the jaw are small, the sky is high. In the heart coarctation of the aorta is possible, it is stratified, and the integrity of the interventricular septum is disturbed. The psychological state with such a disease as the Shereshevsky-Turner syndrome does not suffer, but attention and perception are dissipated.
Nipples are always drawn in, and the genitals are poorly developed. The glands are replaced by connective tissues that do not produce cells and full maturation does not occur. Girls do not enlarge their breasts, there is no menstruation, primary amenorrhea occurs, so fertility is completely absent. There are 3 forms of dysgenesis: pure, blurred and mixed. They differ in clinical manifestations.
Syndrome Shereshevsky-Turner - diagnosis
When the future fetus lacks the X chromosome, then complete monosomy is observed, the Shereshevsky-Turner syndrome is revealed by the neonatologist in the maternity hospital or the pediatrician. If the main signs of the disease are absent, then notice it can only be puberty. Specialists prescribe tests for:
- hormones that determine gonadotropins and estrogen;
- study karyotype.
During the diagnosis of Shereshevsky-Turner syndrome the patient should visit the ophthalmologist, nephrologist, cardiac surgeon, cardiologist, endocrinologist, genetics, lymphologist, gynecologist / andrologist, and otolaryngologist. To identify abnormalities doctors appoint:
- magnetic resonance imaging ;
- ultrasound examination of the kidneys and genital organs;
- electrocardiogram;
- radiography;
- clinical blood test;
- densitometry.
Syndrome Shereshevsky-Turner - treatment
With such a diagnosis, as Turner syndrome, treatment depends on the states of the Y-chromosome in the karyotype. If they are found, the girl is removed by the ovaries. The operation is performed at a young age until reaching the 20th anniversary. Its main goal is to prevent the formation of a malignant tumor. In the absence of this gene, hormone therapy is prescribed.
It is carried out at 16-18 years and the main goal of treatment is:
- development of secondary sexual characteristics;
- prevention of estrogen deficiency;
- restoration of the menstrual cycle ;
- decrease in the level of gonadotropins.
Patients with the syndrome of Shereshevsky-Turner undergo psychological counseling, where they are helped to adapt in society and improve the quality of life. With this disease, most women remain infertile. The treatment is mainly aimed at:
- elimination of external defects;
- compensation for congenital malformations in the body;
- correction of growth;
- metabolic complications.
Life with the syndrome of Shereshevsky-Turner
If the disease is detected at an early stage and the treatment is carried out on time, then the child's growth will be normalized. Modern medicine allows girls to have their own children, for example, IVF. Life with Turner's syndrome has favorable predictions. Patients do not suffer from mental abnormalities, but they are countered by physical labor and neuropsychic tensions.
People with Turner's Syndrome
An easy form of the disease is the Shereshevsky-Turner mosaic syndrome. In this case, some of the female cells have one X chromosome, and the rest - two. Children with this diagnosis do not have severe defects, and sexual pathologies associated with menstruation are not very pronounced, so there is a chance of getting pregnant in the future. The appearance phenotype is present, but not as bright as in monosomy.
Syndrome Shereshevsky-Turner - life expectancy
If you are interested in the question of what the Shereshevsky-Turner syndrome has a prognosis, then it must be said that it does not affect life expectancy. An exception may be congenital heart disease and concomitant diseases. With proper and timely treatment, patients lead a normal life, have sexual partners and even create families.