Turner syndrome is an inherited genetic disorder that occurs only in women and is caused by a missing or incomplete development of the X chromosome. Early diagnosis enables the introduction of appropriate treatment, which significantly improves the quality of life.

The name of the disease -Turner syndrome- comes from the name of the American internist Henry Turner, who was the first in 1938 to describe the same symptoms in seven young women. Although descriptions of patients with similar symptoms appeared in the medical literature earlier, only his observations attracted the interest of other doctors. Turner noticed in his patients short stature, poorly marked female features and a webbed neck. The symptoms he mentioned in his article are called Turner syndrome stigmata ( Turner stigmata ).

Turner syndrome: causes

Turner syndrome is most often caused by the lack or incomplete development of the X chromosome. Normally, a woman has a set of XX chromosomes (one comes from the mother, the other is inherited from the father). In a woman with Turner syndrome, one of these chromosomes is missing.

This is the result of their incorrect division already in the process of formation of eggs and sperm. Occasionally, the second X chromosome may be present in the body, but it is not developed properly, is of the wrong shape, or does not contain complete genetic material.

Turner syndrome: diagnosis

In the world, one in 2,500 girls are born with Turner syndrome. Each year, several dozen of them are born in Poland. The number of cases in individual years is not fully known, as the disease is still rarely diagnosed after birth or in the first weeks of a child's life.

Usually the first symptom that parents notice is their daughter's short stature in relation to her peers. They are often reassured that their daughter "still has time and will start growing in adolescence".

It happens that they are only concerned about the lack of the first menstruation. Sometimes the disease does not give clear symptoms and is diagnosed even after the age of 30, for example by looking for the reasons for the inability to become pregnant or premature termination of menstruation in a woman.

Turner syndrome: symptoms

One of the most important characteristics of the team is short stature. Women who were left untreatedthey reach an average of 143 cm (i.e. about 20 cm less than the average height in a given population). Girls are growing more slowly and do not experience the jump in height typical of the puberty period. The physique of girls with Turner syndrome is also partly different. Incorrect proportions may be particularly noticeable:

  • short neck
  • shorter arms and legs than the body length
  • chunky body

The characteristics include:

  • high arched palate and malocclusion
  • lopsided elbows
  • knocked knees
  • unusual nail shape
  • multiple pigmented marks

U 80-90 percent girls and women suffer from ovarian underdevelopment, which causes delayed puberty, amenorrhea, and infertility.

In some people the symptoms of the disease may be visible, in others they remain hidden. They also rarely occur in one person. The signal for further diagnostics should be the short stature of the child in relation to its peers. This may be supported by small body gains that can be observed already in the first year of life. The older the child gets, the more this difference becomes.

Some symptoms already appear in newborns. These include Congenital lymphoedema (arms and legs look like small pillows), extra folds of skin on the nape of the neck that disappear with age. Sometimes a newborn's neck is visible (additional skin folds on the sides extend from the lower edge of the ears towards the collarbones).

The presence of the disease may be due to low birth weight in relation to the duration of pregnancy. Girls with Turner syndrome eat reluctantly and in small portions, rain and vomit frequently, and have recurrent ear infections in childhood.

Turner syndrome is accompanied by other diseases: e.g.

  • heart and vessel defects
  • hypertension
  • kidney anomalies
  • thyroid diseases (especially Hashimoto's disease)
  • insulin resistance
  • type 2 diabetes

If the child is growing too slowly, it is advisable to have a karyotype (a genetic test that determines chromosome sets). The test is not painful and consists in drawing blood from a vein. Subsequent tests take place in the laboratory. After a few days, the white blood cells go into a state where the number of chromosomes can be visualized.

Turner syndrome: treatment

Early diagnosis and treatment relieve the symptoms of the disease and can significantly improve the quality of life. The patient should be under the care of an endocrinology clinic for children. Treatmentshort stature involves the daily injection of growth hormones. In Poland, they are used from the age of 6, in the world it starts even two years earlier and lasts for several years.

Most sufferers require the administration of female hormones because their ovaries do not develop like he althy women. The goal of the therapy is also to detect and treat congenital defects, especially defects of the heart and urinary system.

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Category:

Genetic diseases