What is Turner Syndrome definition/concept

Turner syndrome is a disorder of genetic origin that affects only women. It occurs thanks to an alteration in the sex chromosomes.

Origin of this genetic flaw

Under normal conditions, each person has 46 pairs of chromosomes, one of which is the sexual pair. The latter is formed by an X chromosome and another that can be X in the case of women or Y in the case of men.

During the formation of the embryo, mutations can occur that lead to the appearance of abnormalities in the replication of sex chromosomes, originating a being with only one sex chromosome that will be type X, so that the pair of sex chromosomes is incomplete (XO karyotype).

These changes do not have a definite cause, they are considered failures due to mutations that occur by chance and cannot be prevented. Turner Syndrome

Main manifestations of Turner syndrome

This anomaly in the sex chromosomes affects the physiognomy and fertility of the sufferer. They are genetically female individuals, that is, they are women who do not have an X chromosome.

This leads to a series of manifestations that include short stature, short neck with folds, low implantation of both ears and hair, the latter being able to reach the nape region.

Another important group of manifestations are hormonal disturbances related to a failure in the development of the ovaries or even their absence in a smaller number of cases. This can affect the development of other secondary sexual characteristics (the appearance and growth of breasts, pubic hair, increased hip size, and the beginning of the menstrual cycle).

Women with this condition are at greater risk than the general population of developing other diseases, especially cardiovascular diseases such as high blood pressure and endocrine diseases such as diabetes and hypothyroidism.

This disorder does not usually affect cognitive ability, female carriers usually have a normal level of intelligence.

Although there is no cure, women with Turner syndrome can lead a normal life.

As this is a genetic flaw, there is currently no definitive cure that allows the missing X chromosome to be incorporated into cells. However, it is possible to act on the consequences of their absence to minimize its manifestations and allow these women to have a normal life.

The two main points of intervention for treatment are ovarian hormonal growth and function .

In terms of growth, girls affected by this disease can be treated with growth hormone to help them reach an average height into adulthood.

In relation to hormone function, takes place one estrogen replacement therapy, which helps to achieve the normal development of secondary sexual characteristics.

Fertility is compromised, as a woman with Turner syndrome does not ovulate, that is, she does not produce eggs. However, thanks to assisted  fertilization techniques , these women can maintain a pregnancy and reach a happy ending.

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