Shereshevsky Turner syndrome


Shereshevsky Turner syndrome – This is a chromosomal disorder, which is expressed in anomalies 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 anomalies 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 spontaneous miscarriages often occur in women in the early stages of pregnancy due to this genetic disorder. Most often, the disease is diagnosed in female children. Quite rarely, the syndrome is detected in male newborns.

Synonyms of Shereshevsky-Turner syndrome are the terms “Ulrich-Turner syndrome”, “Shereshevsky syndrome”, “Turner syndrome”. All these scientists have contributed to the study of this pathology.

Symptoms of Turner syndrome

Shereshevsky Turner syndrome

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 compared to 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 the newborn is shortened, there are folds on its sides. In medicine, this condition is called pterygium syndrome.

  • Often during the neonatal period, heart defects of a congenital nature, lymphostasis are detected. The legs and feet, as well as the hands of the baby, are swollen.

  • The process of sucking in a child is disturbed, there is a tendency to frequent regurgitation with a fountain. There is motor restlessness.

  • With the transition from infancy to early childhood, there is a lag not only in physical but also in mental development. Speech, attention, memory suffer.

  • The child is prone to recurrent otitis media due to which he develops conductive hearing loss. Otitis media most often occurs between the ages of 6 and 35 years. In adulthood, women are prone to progressive sensorineural hearing loss, which leads to hearing loss after age XNUMX and older.

  • By 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, facial expressions are inexpressive, sluggish, there are no wrinkles on the forehead, the lower lip is thickened and sags (the face of a myopath or the face of a sphinx). The hairline is underestimated, the auricles are deformed, the chest is wide, there is an anomaly of the skull with underdevelopment of the lower jaw.

  • Frequent violations of the bones and joints. It is possible to identify hip dysplasia and deviation of the elbow joint. Often, a curvature of the bones of the lower leg, shortening of the 4th and 5th fingers on the hands, and scoliosis are diagnosed.

  • Insufficient production of estrogen leads to the development of osteoporosis, which, in turn, causes the occurrence of frequent fractures.

  • The high gothic sky contributes to the transformation of the voice, making its tone higher. There may be abnormal development of the teeth, 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 extremely rarely diagnosed.

Separately, it is worth noting violations of the functioning of various organs and organ systems characteristic of Turner’s 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, there are no follicles 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 are scrotum-shaped, and the labia minora, hymen and clitoris are not fully developed.

  • In the pubertal period, girls have underdevelopment of the mammary glands with inverted nipples, hair is scanty. Periods come late or don’t start at all. Infertility is most often a symptom of Turner’s syndrome, however, with some variants of genetic rearrangements, the onset and bearing 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 testicles 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 ventricular septal defect, an open ductus arteriosus, aneurysm and coarctation of the aorta, coronary heart disease

  • On the part of the urinary system, doubling of the pelvis, stenosis of the renal arteries, the presence of a horseshoe-shaped kidney, and an atypical location of the renal veins are possible.

  • From the visual system: strabismus, ptosis, color blindness, myopia.

  • Dermatological problems are not uncommon, for example, pigmented nevi in ​​large quantities, 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 XNUMX diabetes. Women tend to be obese.

Causes of Turner Syndrome

Shereshevsky Turner syndrome

The causes of Turner syndrome lie in genetic pathologies. Their basis is a numerical violation in the X chromosome or a violation in its structure.

Deviations in the formation of the X chromosome in Turner syndrome may be associated with the following anomalies:

  • In the vast majority of cases, monosomy of the X chromosome is detected. This means that the patient is missing a second sex chromosome. Such a violation is diagnosed in 60% of cases.

  • Various structural anomalies in the X chromosome are diagnosed in 20% of cases. This can be a deletion of a long or short arm, an X / X type chromosomal translocation, a terminal deletion in both arms of the X chromosome with the appearance of a ring chromosome, etc.

  • Another 20% of cases of the development of Shereshevsky-Turner syndrome occur in mosaicism, that is, the presence in human tissues of genetically different cells in various variations.

  • 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 increased risk of the birth of 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 risk of abortion and the risk of early delivery.

Treatment of Turner’s syndrome

Treatment of Turner’s syndrome is aimed at stimulating the patient’s growth, at activating the formation of signs that determine a person’s gender. For women, doctors try to regulate the menstrual cycle and achieve its normalization in the future.

At an early age, therapy comes down to taking vitamin complexes, visiting a masseur’s office, and performing exercise therapy. The child should receive good quality nutrition.

To increase growth, hormonal therapy with the use of the hormone Somatotropin is recommended. It is administered by injection 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. Administer the medication at bedtime. Such therapy allows patients with Turner’s syndrome to grow to 150-155 cm. Doctors recommend combining hormonal treatment with therapy using anabolic steroids. Regular monitoring by a gynecologist and endocrinologist is important, since hormone therapy with prolonged use can cause various complications.

Estrogen replacement therapy starts from the moment when a teenager reaches 13 years of age. This allows you to simulate the normal puberty of a girl. After a year or a year and a half, it is recommended to start a cyclic course of taking 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, folds on the neck, are eliminated with the help of plastic surgery.

The IVF method allows women to become pregnant by transplanting a donor egg to her. However, if at least short-term ovarian activity is observed, then it is possible to use women to fertilize their cells. This becomes possible when the uterus reaches 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 create a family, live a normal sexual life and have children. Although the vast majority of patients remain childless.

Measures to prevent the disease are reduced to a consultation with a geneticist and prenatal diagnosis.

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