Syndrome Shereshevsky-Turner does not interfere with normal life

We sometimes encounter 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. Especially to the philistine, the name "Shereshevsky-Turner Syndrome" says little. Well, let's talk about this condition.

The reasons for it are chromosome abnormality, this disease affects women. The frequency is one girl for 2500 pregnancies. In fact, sick girls are much more pregnant, but as a rule, nature itself does not allow them to come into the world: most often it 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 has skeletal structure abnormalities, which is typical of the disease.

What are the symptoms of the disease?

• Sick girls do not grow to normal levels. At the beginning of life, up to three years, they grow normally, but after that growth slows down. A teenage "growth spurt" is not typical.
• Non-functioning ovaries are the second symptom. In patients without special hormonal treatment, the breast does not grow and the periods do not begin.
• Despite the fact that such girls are sterile, they have quite normal uterus and vagina.
• In childhood otites are characteristic.
• Girls are intellectually normal, although sometimes there are problems with mathematical skills and subtle manual movements.
• Wide neck with a fold of the skin
• More often than in ordinary girls, there is scoliosis
• Propensity to hypertension and diabetes
• The possibility of osteoporosis (due to estrogens), but if you perform substitution therapy, this can be avoided.

How to diagnose Shereshevsky-Turner syndrome?

It is usually enough for a doctor to see typical physical signs: "excess" skin on the neck, a wide chest, swollen limbs. But the main clinical signs are small growth and idle ovaries.

Most girls are diagnosed in early childhood when they see their growth slowed. Sometimes Shereshevsky-Turner syndrome is noticed later, due to the fact that puberty does not begin.

This disease can be suspected during an ultrasound examination of a pregnant woman. The diagnosis can be confirmed by taking a sample of the amniotic fluid. In this case, immediately after birth, the girl will be observed by a specialist.

After childbirth, the karyotype of the child is examined, thus finally confirming the Shereshevsky-Turner syndrome.

Treatment is carried out by pediatric endocrinologist.

• A hormone of growth is necessarily introduced , as a result of which growth grows by five to seven cm more than if it were untreated.
• Progesterone with estrogen is prescribed. Progesterone - for the uterus to be healthy, estrogen - to protect the bones and cause the formation of the breast. They start therapy at 12 years old.
• If necessary, contact LOR and the cardiologist to avoid typical complications. Need constant monitoring of blood pressure, it needs to be measured and recorded every day. With a tendency to increase with hypertension, they are struggling with medicines.

The verdict of Shereshevsky-Turner syndrome to motherhood ? ECO will help a sick woman, but the entire pregnancy will have to be under the control of the doctor. Yes, and embryos will be donor. Perhaps adoption is the best alternative for sick women.

If a girl is observed by a doctor and carries out recommendations, she can live and not notice ailment. However, very serious self-discipline is needed. Then you can forget about the syndrome and feel healthy. After all, intellectually, such girls sometimes even surpass normal ones.