Turner syndrome is a genetic disease that affects only girls. It is characterized by the total or partial absence of one of the two X chromosomes. A human being has 46 chromosomes, women usually have 2 same-sex chromosomes, written as XX, those who suffer from this syndrome may have absence of one of these chromosomes or a malformation on one or both XX chromosomes.
Turner syndrome occurs in 1 in 2,000 live births. The diagnosis can still be made inside the mother’s belly with a genetic study, but most diagnoses are done after the child is born. Women with Turner syndrome can have a normal life but always with medical follow-up.
Characteristics of Turner’s syndrome
- Excess skin on the neck;
- Neck attached to the shoulders;
- Swelling in hands and feet;
- Drooping eyelids;
- Protrusions covered by dark hair on the skin;
- Nails not well developed;
- Fingers and toes shorter;
- Amenorrhea (absence of menstruation);
- Ovaries without ova in development;
- Arterial hypertension;
- Renal problems;
Treatment for Turner’s syndrome
The treatment for Turner syndrome is done by taking growth hormones from the age of 13-14, these hormones will allow a development and growth of the breasts and pubic hair. Treatment varies depending on the signs presented and may undergo operations to remove excess skin on the neck and specific treatments for problems such as hypertension and kidney problems.For the diagnosis of the disease, a series of tests are performed: regular blood tests to control hormone levels, echocardiogram, magnetic resonance imaging of the chest, ultrasound, and pelvic examination. The patient should be followed periodically in order to prevent problems such as high blood pressure, kidney failure, thyroid problems, among others.