Syndrome Shereshevsky-Turner - Causes, symptoms and treatment. MF.
Jun 16, 2018
Syndrome Shereshevsky-Turner - a disease that occurs when anomalous development of sex chromosomes( instead of inherent in the female body of XX sex chromosomes, there is only one, the set of chromosomes is incomplete), resulting in a disruption of the development of the sexual glands in the early embryonic period.
Suffer from a woman's syndrome. Frequency of occurrence of the syndrome is one to three thousand born girls.
Symptoms of the Shereshevsky-Turner syndrome
In a child with this disease ovaries are formed from the connective tissue, the uterus is underdeveloped. Very often, the syndrome is combined with the underdevelopment of other organs. Already at birth, the girl shows a thickening of the skin folds on the nape, a typical swelling of the hands and feet. Often a child is born small, with a low body weight.
For a girl with the Shereshevsky-Turner syndrome, at an early age, the typical appearance is typical:
- is proportionally low in height( the final growth of patients does not exceed 150 cm);
- shortening of the lower jaw;
- protruding low-lying ears;
- short necks with pterygoid folds running from head to shoulders( neck of sphinx), on which a low border of hair growth is noted;
- wide thorax with far-apart retracted nipples;
- is often observed the curvature of the arms in the area of the elbow joints;
- shortened 4 and 5 metacarpals, which makes the fingers short;
- convex nails;
Possible developmental defects from other organs and systems:
- cardiovascular - heart defects;
- urinary tract - renal underdevelopment, ureter doubling, doubling and horseshoe kidney;
- organ of vision - ptosis( omission of the eyelid), strabismus, the formation of the "third century".
Secondary sexual signs in Shereshevsky-Turner syndrome are weakly expressed( sometimes absent) and manifest in the following:
- mammary gland underdevelopment;
- abnormal development of large and small labia, uterus, vagina;
- the ovaries are not detected;
- amenorrhea( absence of menstruation);
- , pubic hair and pubescence in the armpits are not expressed.
Diagnosis of Shereshevsky-Ternenra Syndrome
For the diagnosis the patient undergoes a complete examination, which includes:
- General analysis of blood and urine.
- Daily excretion in the urine of gonadotropins and estrogens.
- Determination of blood levels of gonadotropins and estrogens.
- Consultation of a gynecologist.
- Determination of sex chromatin and karyotype.
- Ultrasound of the uterus and ovaries.
- X-ray examination of the bone system.
For women with the Shereshevsky-Turner syndrome, the results of the examination will be as follows:
- In a blood test, a decrease in the amount of estrogens and an increase in the hormones of the pituitary( gonadotropins), especially foliotropin.
- Increased daily excretion in the urine of gonadotropins and estrogen reduction.
- When ultrasound is not found the ovaries, the uterus has an underdeveloped appearance.
- An x-ray examination reveals osteoporosis( rarefaction of bone tissue) and various anomalies in the development of the skeleton.
- Often, people suffering from this syndrome, there are diseases such as diabetes, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis.
- Finally confirms the diagnosis of genetic research.
Treatment of Shereshevsky-Turner syndrome
Complete cure of patients with Shereshevsky-Turner syndrome is impossible.
For symptomatic treatment, growth hormone( human somatotropin) is used, by means of which it is possible to achieve an increase in the final growth of the patient by 4-6 cm. After reaching the age of 12-13 years, estrogen replacement therapy is carried out, since patients not having their own ovaries capable of producing this hormone. But, unfortunately, treatment does not prevent the development of osteoporosis and an increased risk of fractures.
Defects of other organs and systems often require surgical treatment.
Forecast of Shereshevsky-Turner syndrome
With early detection and timely treatment, you can achieve increased growth. The prognosis of the disease with respect to complete recovery is unfavorable. Patients remain infertile.
With Shereshevsky-Turner syndrome, a lethal outcome( death) is possible, which is primarily due to birth defects in vital organs.
There is no significant mental retardation in patients with the syndrome, they can successfully learn and perform any work not related to physical and significant neuropsychic stress.