The Shereshevsky-Turner syndrome is a genetic inherited disease, which results in disorders in the structure of the X chromosome, accompanied by abnormalities in the development of internal organs and short stature. This disease as hereditary is described in 1925 by the endocrinologist Shereshevsky, in the opinion of which, it is due to the incomplete development of the pituitary gland in its anterior part and sexual glands with simultaneous congenital somatic defects. And here Turner in 1938 were There are three additional symptoms to the common signs of the disease. These include deformations of the elbow joints, skin folds in the form of wings and sexual infantilism present on the skin.
Causes of Shereshevsky-Turner Syndrome
Chromosomal pathology of the fetus is the basis for the causes of this disease, which leads to severe pregnancy and premature birth, as a result of which a child with the Shereshevsky-Turner syndrome is born. This anomaly, as revealed, does not depend on the age or any pathological diseases of the parents. Therefore, a set of pathological chromosomes forms the basis of the syndrome. This defect occurs after the nondisjunction of the chromosomes of the mother or father.
Forty-six chromosomes are in the body of a healthy person, and patients with Shereshevsky-Turner syndrome do not have a single chromosome, it simply does not exist. Instead of the double XX chromosome, which are inherent in women, contains only one X chromosome forty-fifth (XO). If this chromosome is completely absent or undergoes changes, then the formation of enzymes and proteins in the body is disrupted, which leads to a general imbalance. This pathology is one of the cytogenetic forms of the Shereshevsky-Turner syndrome.
But the most common is the second variant - this is mosaicism, which is characterized by structural rearrangements of the isochromosome localized on the long arm of the X chromosome. Therefore, if the main reason for the development of the Shereshevsky-Turner syndrome is a violation in the karyotype, then already these changes can cause various effects of ionizing radiation on the cells during fission, harmful toxic substances and the predisposition of the organism at the genetic level to the formation of chromosomes of pathological etiology.
Syndrome Shereshevsky-Turner symptoms
Syndrome Shereshevsky-Turner has the main clinical and pathophysiological features, including, first of all, growth disruption, premature ovarian failure, congenital malformations from the cardiovascular and urinary systems, skeletal defects, lymphatic edema of the hands and feet, pathology of the eyes and hearing, as well as metabolic and physiological changes.
In almost 95% of cases with Shereshevsky-Turner syndrome, short stature is revealed. The final result of the average growth is 140-147 cm. The delay in growth in this syndrome is due to a combination of skeletal dysplasia with disorders in chromosomes and intrauterine growth retardation.
Disturbances occurring in the hormonal epithelium lead to primary failure of the gonads and gonadoblastoma. 25% of girls with Shereshevsky-Turner syndrome have spontaneous puberty, which has a mosaic variant of a karyotype. In general, it is complete, so it does not allow for normal and long-term functioning of the ovaries.
Also pubertal period is characterized by the absence of secondary sexual characteristics. The mammary glands are not developed at all, amenorrhea and sparse pubis hair spread, the external genitalia are underdeveloped. Very rarely, follicles are found, which causes the impossibility of procreation. The lack of estrogen develops in women osteoporosis , which causes frequent fractures of the neck of the hip, spine, wrist.
Very often patients with Shereshevsky-Turner syndrome complain of an increase in blood pressure. In addition, on the legs it is below the norm or, in general, it is not determined.
The main cause of the death of patients with Shereshevsky-Turner syndrome is the dilatation of the dilated aorta. Also, in many patients, coarctation of the aorta (provokes pressure) and a bicuspid aortic valve is detected.
A common phenomenon in this disease is the pathology of the urinary system. Ultrasound reveals developmental defects in the form of double kidney and malorotation. Also there is bilateral hypoplasia of the kidneys, the number of arteries and veins varies, the ureters and pelvis doubles. As a rule, such changes do not disrupt the function of the urinary system, but lead to hypertension and cause the development of many infections.
With lymphostasis, patients with Shereshevsky-Turner syndrome have swelling of the hands and feet, which disappear with age, vocal folds on the neck, dysplasia of the nails, anomalies in the development of the auricles.
A typical sign of the Shereshevsky-Turner syndrome is the deviation from the norm of the elbow joints, the curvature of the shins, the presence of the shortened fourth and fifth fingers on the hands. Frequent pathology of patients is dysplasia of the hip joint, scoliosis, gothic palate, sometimes abnormalities in the growth of teeth, infantile physique with mature facial features. Visually, the skin shows pigmented spots, neurofibromas and vitiligo . When examining the patient, minor anomalies in the development of the eye in the form of an antimonogloidal incision are noted.
Patients with Shereshevsky-Turner syndrome in their behavior resemble small children, although mimicry and facial expression reflect an adult.
Syndrome Shereshevsky-Turner diagnostics
Newborn children diagnosed with Shereshevsky-Turner syndrome are rather difficult, but after the first year of life, with the advent of phenotypic signs, this becomes quite possible. To make a diagnosis, it is necessary to carry out a molecular-cytogenetic analysis to exclude Mozzacism.
Diagnosis of Shereshevsky-Turner syndrome is carried out in the process of karyotype research, detection of somatic abnormalities and the conduct of laparotomy. Carriers of this pathology are under the regular supervision of an oncologist, since non-developing gonads can develop into dysgerminomas or gonocytomas.
In the analysis of the blood of patients with the Shereshevsky-Turner syndrome, a reduced amount of estrogens is detected with increased hormones of the pituitary (foliotropin). On ultrasound - underdevelopment of the uterus and the absence of ovaries. Radiologic examination reveals osteoporosis of bones and various types of skeletal anomaly. Very often other diseases of internal organs join the main disease.
Syndrome Shereshevsky-Turner treatment
First of all, the treatment of Shereshevsky-Turner syndrome begins with the use of growth-stimulating therapy. This is necessary in order to normalize growth at an earlier age, induce pubertal also in the normal period and finally achieve significant results in growth.
Today, there is an effective and safe drug used to treat patients with the syndrome of Shereshevsky-Turner - a recombinant growth hormone (RGR). Genetics proved that the use of high doses of RGR allowed to increase the growth of patients to 157-163 cm. In the first year of treatment, the maximum growth rate of 8 to 15 cm is noted, and then it decreases to 5-6 cm per year.
Early started regularly treated treatment of Shereshevsky-Turner syndrome gives a positive result in the socially significant final growth of these patients.
In addition to increased growth, when using recombinant hormone, there is a positive dynamics of the hormonal, mental and metabolic background.
Simultaneously with this drug, patients are prescribed somatotropin, which increases muscle mass, improves renal blood flow, increases cardiac output, increases calcium absorption in the intestine, and enriches bone minerals. As a result, the level of lipoproteins in the blood decreases, and the levels of alkaline phosphatase, fatty acids, urea and phosphorus increase to the norm. Patients with Shereshevsky-Turner syndrome feel an increase in vitality, and their lives improve significantly.
Induction of pubertal is carried out using drugs with estrogens that mimic normal sexual development. If estrogen replacement therapy started earlier from the age of fifteen to optimize the growth potential, then, according to the final data of the International Consensus on the Treatment of the Shereshevsky-Turner Syndrome, it is customary to start estrogen therapy from the age of twelve at the same time as RGR. This is due to the proven positive therapy of these hormones. But with the delay of puberty, which contributes to the early manifestation of ovarian insufficiency, the negative psychological state of such patients may increase.
Many women with Shereshevsky-Turner syndrome after such treatment have chances to give birth to a child. After all, after using growth hormones, the uterus grows to normal size, which allows you to bear the child. For this, IVF is used with a donor egg.
At the present time, various corrective methods for the treatment of the Shereshevsky-Turner syndrome have been developed. For example, to regulate the body's energy system, acupuncture is used. It contributes to the normalization of metabolic processes, improves the functions of vegetative-endocrine organs, restores the balance of the whole organism. Acupuncture is one of the unique methods in therapy that improves microcirculation of biofluids in systems and organs, helps to better function the brain and heart, and has an anesthetic effect in the body.
With Shereshevsky-Turner syndrome, there is a visual defect on the neck in the form of additional skin folds, which can be surgically removed by performing a plastic surgery.
For the removal of shortness of breath, many patients are prescribed physiotherapy courses. In a particular case, these are inhalations with moistened oxygen. Also very well helps and therapeutic exercise, which includes certain exercises aimed at specific muscle groups (breathing, hands or feet). These exercises can be either active (performed by the patient himself) or passive (with the help of a medical worker or by helping yourself with a healthy part of the body).
Thanks to this complex treatment, life with the Shereshevsky-Turner syndrome is much better.