Shereshevsky Turner syndrome
Content:
- Turner syndrome symptoms
- Causes of Turner syndrome
- Turner syndrome treatment
Shereshevsky Turner syndrome is a chromosomal disorder, which is expressed in abnormalities of physical development, in sexual infantilism and short stature. The cause of this genomic disease is monosomy, that is, a sick person has only one sex X chromosome.
The syndrome is caused by primary gonadal dysgenesis, which occurs as a result of abnormalities of the sex X chromosome. According to statistics for 3000 newborns, 1 child will be born with Shereshevsky-Turner syndrome. The researchers note that the true number of cases of this pathology is unknown, since often due to this genetic disorder, spontaneous miscarriages occur in women in the early stages of pregnancy. Most often, the disease is diagnosed in female children. Quite rarely, the syndrome is detected in male newborns.
Synonyms for Shereshevsky-Turner syndrome are the terms "Ulrich-Turner syndrome", "Shereshevsky syndrome", "Turner syndrome". All these scientists have contributed to the study of this pathology.
Turner syndrome symptoms
The symptoms of Turner Syndrome begin to appear from birth. The clinical picture of the disease is as follows:
- Babies are often born prematurely.
- If a child is born on time, then his body weight and height will be underestimated in comparison with the average values. Such children weigh from 2.5 kg to 2.8 kg, and their body length does not exceed 42-48 cm.
- The neck of a newborn is shortened, there are folds along its sides. In medicine, this condition is called pterygium syndrome.
- Often during the neonatal period, congenital heart defects and lymphostasis are detected. The baby's legs and feet, as well as the hands, are swollen.
- The child's sucking process is disrupted, there is a tendency to frequent regurgitation by a fountain. Motor restlessness is observed.
- With the transition from infancy to early childhood, there is a lag not only in physical, but also in mental development. Speech, attention, memory suffers.
- The child is prone to recurrent otitis media due to which conductive hearing loss develops in him. Otitis occurs most often between the ages of one and six years. In adulthood, women are prone to progressive sensorineural hearing loss, which leads to hearing impairment after age 35 and older.
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By the time of puberty, the height of children does not exceed 145 cm.
- The appearance of a teenager has features characteristic of this disease: the neck is short, covered with pterygoid folds, mimicry is low-expressive, sluggish, there are no folds on the forehead, the lower lip is thickened and drooping (the face of a myopath or the face of a sphinx). The border of hair growth is underestimated, the auricles are deformed, the chest is wide, there is an anomaly of the skull with underdevelopment of the lower jaw.
- Bone and joint disorders are not uncommon. It is possible to detect hip dysplasia and deviation of the elbow joint. The curvature of the lower leg bones, shortening of the 4th and 5th fingers, and scoliosis are often diagnosed.
- Insufficient estrogen production leads to the development of osteoporosis, which, in turn, causes frequent fractures.
- The high gothic sky transforms the voice, making its tone higher. Abnormal development of teeth is possible, which requires orthodontic correction.
- As the patient grows older, lymphatic edema disappears, but can occur during physical exertion.
- The intellectual capabilities of people with Shershevsky-Turner syndrome are not impaired, oligophrenia is rarely diagnosed.
Separately, it is worth noting disorders in the functioning of various organs and organ systems characteristic of Turner syndrome:
- On the part of the reproductive system, the leading symptom of the disease is primary hypogonadism (or sexual infantilism). 100% of women suffer from this. At the same time, follicles are absent in their ovaries, and they themselves are represented by strands of fibrous tissue. The uterus is underdeveloped, reduced in size relative to the age and physiological norm. The labia majora have a scrotal shape, while the labia minora, hymen and clitoris are not fully developed.
- During puberty, girls have underdevelopment of the mammary glands with inverted nipples, and poor hair growth. Menses come with a delay, or do not start at all. Infertility is most often a symptom of Turner syndrome, however, with some variants of genetic rearrangements, the onset and gestation of pregnancy remains possible.
- If the disease is detected in men, then on the part of the reproductive system they have disorders in the formation of the testes with their hypoplasia or bilateral cryptorchidism, anorchia, an extremely low concentration of testosterone in the blood.
- On the part of the cardiovascular system, there is often a defect of the interventricular septum, patent ductus arteriosus, aneurysm and coarctation of the aorta, ischemic heart disease
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On the part of the urinary system, doubling of the pelvis, stenosis of the renal arteries, the presence of a horseshoe kidney, and atypical location of the renal veins are possible.
- From the visual system: strabismus, ptosis, color blindness, myopia.
- Dermatological problems are common, for example, pigmented nevi in large numbers, alopecia, hypertrichosis, vitiligo.
- On the part of the gastrointestinal tract, there is an increased risk of developing colon cancer.
- From the endocrine system: Hashimoto's thyroiditis, hypothyroidism.
- Metabolic disorders often cause the development of type 2 diabetes. Women tend to be obese.
Causes of Turner syndrome
The causes of Turner syndrome lie in genetic pathologies. They are based on a numerical violation in the X chromosome or a violation in its structure.
Abnormalities in the formation of the X chromosome in Turner syndrome may be associated with the following abnormalities:
- In the vast majority of cases, monosomy of the X chromosome is detected. This means that the patient is missing a second sex chromosome. A similar violation is diagnosed in 60% of cases.
- Various structural abnormalities in the X chromosome are diagnosed in 20% of cases. This can be a deletion of a long or short arm, a chromosomal translocation of the X / X type, a terminal deletion in both arms of the X chromosome with the appearance of a circular chromosome, etc.
- Another 20% of cases of Shereshevsky-Turner syndrome are caused by mosaicism, that is, the presence of genetically different cells in different variations in human tissues.
- If the pathology occurs in men, then the cause is either mosaicism or translocation.
At the same time, the age of a pregnant woman does not affect the increase in the risk of having a newborn with Turner syndrome. Both quantitative, qualitative, and structural pathological changes in the X chromosome occur as a result of meiotic divergence of chromosomes. During pregnancy, a woman suffers from toxicosis, she has a high threat of termination of pregnancy and the risk of early labor.
Turner syndrome treatment
Treatment of Turner syndrome is aimed at stimulating the patient's growth, at activating the formation of signs that determine a person's sex. For women, doctors try to regulate the menstrual cycle and achieve its normalization in the future.
At an early age, therapy is reduced to taking vitamin complexes, visiting a massage therapist's office, performing exercise therapy. The child should receive quality nutritious food.
To increase growth, hormonal therapy with the use of the hormone Somatoropin is recommended. It is injected subcutaneously every day. Treatment with Somatotropin should be carried out up to 15 years, until the growth rate slows down to 20 mm per year. The medicine is administered before bedtime. Such therapy allows patients with Turner syndrome to grow up to 150-155 cm. Doctors recommend combining hormonal treatment with therapy using anabolic steroids. Regular observation by a gynecologist and endocrinologist is important, since hormone therapy with prolonged use can cause various complications.
Replacement therapy with the use of estrogen starts from the moment when the teenager reaches 13 years old. This allows you to mimic the normal puberty of a girl. After a year or a year and a half, it is recommended to start a cyclic course of administration of estrogen-progesterone oral contraceptives. Hormone therapy is recommended for women for up to 50 years. If a man is exposed to the disease, then he is recommended to take male hormones.
Cosmetic defects, in particular, wrinkles in the neck, are eliminated through plastic surgery.
The IVF method allows women to become pregnant when they receive a donor egg. However, if at least a short-term ovarian activity is observed, then it is possible to use a woman to fertilize her cells. This becomes possible when the uterus reaches its normal size.
In the absence of severe heart defects, patients with Turner syndrome can live to a natural old age. If you adhere to the therapeutic scheme, then it becomes possible to start a family, live a normal sex life and have children. Although the overwhelming majority of patients remain childless.
Disease prevention measures are reduced to a consultation with a geneticist and prenatal diagnosis.
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
