We sometimes come across people who look weird. However, only professionals can usually determine what is the matter. Not every doctor in our country remembers by heart the symptoms and manifestations of a particular genetic disease. Moreover, the layman’s name “Shereshevsky-Turner Syndrome” says little. Well, let's talk about this condition.
The reasons for it are abnormal chromosomes, women suffer from this disease. Frequency - one girl per 2500 pregnancies. In fact, there are much more pregnancies for sick girls, but, as a rule, nature itself does not allow them to be born: most often, the case ends in miscarriages or stillbirths.
Scientists have not yet identified a specific gene responsible for the problem. However, there are some suspicions about one gene. If it is not present in both sex chromosomes, the girl shows abnormalities in the structure of the skeleton, which is typical for the disease.
What are the symptoms of the disease?
- Sick girls do not grow to a normal level. At the beginning of life, up to three years, they grow normally, but after that growth slows down. The teenage “growth spurt" is not characteristic.
- Non-functioning ovaries are the second symptom. In patients without special hormonal treatment, the breast does not grow and the menstruation does not begin.
- Despite the fact that such girls are infertile, they have a completely normal uterus and vagina.
- Otitis is characteristic in childhood.
- Girls are intellectually normal, although sometimes there are problems with math skills and subtle manual movements.
- Wide neck with a fold of skin
- Scoliosis is more common than ordinary girls.
- Tendency to hypertension and diabetes
- The possibility of osteoporosis (due to estrogen), but if replacement therapy is carried out, this can be avoided.
How to diagnose Shereshevsky-Turner syndrome?
Usually, it is enough for the doctor to see typical physical signs: “extra” skin on the neck, wide chest, swollen limbs. But the main clinical signs are short stature and broken ovaries.
Most girls are diagnosed in early childhood when they see that their growth has slowed. Sometimes Shereshevsky-Turner syndrome is noticed later, due to the fact that puberty does not occur .
This disease can be suspected during an ultrasound examination of a pregnant woman. The diagnosis can be confirmed by taking a sample of amniotic fluid. In this case, immediately after birth, the girl will be observed by a specialist.
After childbirth, the baby’s karyotype is examined - thus, Shereshevsky-Turner syndrome is finally confirmed.
Treatment is carried out by a pediatrician-endocrinologist.
- Growth hormone is necessarily introduced , as a result of which the growth becomes five to seven cm higher than if it were without treatment.
- Progesterone with estrogen is prescribed. Progesterone - for the uterus to be healthy, estrogen - to protect the bones and cause breast formation. They begin therapy at age 12.
- If necessary, consult an ENT and a cardiologist to avoid typical complications. Constant blood pressure monitoring is needed, it needs to be measured and recorded every day. With a tendency to increase, they fight with hypertension with drugs.
Is Shereshevsky-Turner syndrome sentenced to motherhood ? IVF will help a sick woman, but the entire pregnancy will have to be carried out under the supervision of a doctor. Yes, and the embryos will be donated. Perhaps adoption is the best alternative for sick women.
If a girl is observed by a doctor and follows the recommendations, she may well live and not notice an illness. However, very serious self-discipline is needed. Then you can forget about the syndrome and feel healthy. Indeed, intellectually such girls sometimes even surpass normal ones.