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Turner Syndrome (Monosomy X)

Turner syndrome is a genetic disease caused by an abnormality in the structure of one of the sex chromosomes. Man has 23 pairs of chromosomes, or 46 pieces. Sex chromosomes are X and Y chromosomes in a man, and two X chromosomes in a woman. Turner syndrome occurs when there is a complete absence or part of one X chromosome. It occurs only in the fair sex. Otherwise, the disease is called monosomy X, gonadal dysgenesis, or Bonnevie-Ullrich syndrome. The disease affects 1 in 2,000 women, so it is quite common. This disease does not cause great inconvenience and such a woman can lead a normal life, but she should be constantly monitored by a doctor to reduce the risk of complications and, if necessary, to react quickly and implement treatment.

The cause of Turner syndrome is unknown, so there is currently no way to prevent it.

Turner Syndrome (Monosomy X)

Turner syndrome – symptoms

Women with Turner syndrome show some characteristic symptoms that are noticeable from an early age. These are among others:

drooping eyelid (s);
short stature;
flat feet;
large body weight;
low set ears;
elevated palate;
swelling of the limbs.

Women with this condition are more likely to suffer from the following diseases:

heart defects;
dry eye;
hearing problems and even deafness;
recurring ear infections;

These symptoms can appear from infancy but also develop later (e.g. problems with sexual development). The occurrence of one or even several symptoms is not synonymous with this condition, so detailed research is needed.

Turner syndrome – diagnosis

The basis for establishing Turner syndrome is genetic testing. They can already be done before the baby is born. The disease is detected by karyotyping. It is performed during prenatal examinations. Such tests check whether the chromosomes are well developed and structured. Prenatal testing is recommended for every woman who has episodes of genetic diseases in her family or the family of the child’s father.

Your doctor may also order tests to find or rule out Turner disease. These include, among others:

blood test, which is mainly based on examining the level of sex hormones;
an echocardiogram that can indicate heart disease;
magnetic resonance imaging;
pelvic examinations;

Turner syndrome – possible complications and health problems

Women with Turner syndrome are more likely to develop some diseases than women without Turner syndrome. Therefore, such persons should be under constant medical supervision.

Kidney defects and urinary problems – Some women suffer from recurring urinary tract infections. The kidneys may not be in the right position. Kidney problems can also lead to high blood pressure.

Hypothyroidism – Your thyroid hormone levels are too low. This can lead to inflammation of the thyroid gland. A sick thyroid gland can cause a variety of health problems.

Celiac disease – that is gluten intolerance. Requires a special gluten-free diet.

Heart disease and defects – mainly hypertension, but there are also problems with the aorta.

Obesity – can be a handicap of Turner syndrome. It, in turn, can lead to diabetes.

How to live with Turner syndrome?

If a woman with Turner syndrome is constantly monitored by a doctor, she can live, function, work and learn normally. Treatment is mainly symptomatic. There is no cure to combat the disease, so comorbidities are treated.

Girls often have short stature. They are given growth hormone as an injection. Hormone therapy also allows for normal maturation – the appearance of pubic hair, breast growth, menstruation.

Women with Turner syndrome can also become mothers even if they are sterile. They can use donor eggs and undergo an in vitro procedure. Certainly, the gynecologist will tell you what the possibilities are.

If you have doubts or questions, the Association for Patient Aid with Turner Syndrome operates in Poland. It is also worth talking to a psychologist if you are not fully coping with the disease.

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