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What exactly is Turner syndrome?

Turner syndrome is a condition which is typical only of females, and which is characterized by the number of symptoms. The most obvious are physical characteristics, because girls with this syndrome are short, they have broad chest, swollen hands and feet, webbed necks, low hairline, and their ears are also set low. The majority of the girls with this syndrome are infertile, because one of the main characteristics of patients with Turner syndrome is that their ovaries are dysfunctional, so they do not have menstruation.

Besides these physical characteristics, they often have numerous medical problems starting with those related to vision and hearing, but they usually suffer from congenital heart disease, and various autoimmune diseases, among which the most frequent are hypothyroidism and diabetes. As for cognitive abilities, they are also impaired, particularly the ones related to memory and learning. These are all the reasons why they have problems with social interactios.

What are the causes of Turner syndrome?

Turner syndrome is the result of abnormality of the sex chromosome, which in this case means that either a part of one sex chromosome, or the entire chromosome is absent. Since females have two XX chromosomes, one of them is either missing or abnormal, while in some cases, it can be present only in a part of the cells. This happens due to the fact that either a part or the entire second sex chromosome is not passed to the fetus, although the reason for this has not been discovered yet. There are several theories, but none of them has been proven so far. This condition can be diagnosed even during pregnancy, either by amniocentesis or by a test which is called karotype. If not then, it can also be diagnosed in infancy or early in childhood. However, since this is something that happens randomly and spontaneously, there is no reason for worry that those who have or had one child with this syndrome will have another one, too.

There is no cure to this syndrome, but it is a fact that girls and women who are born with it need hormonal therapy in the first place, and it can be growth hormone therapy with the purpose of increasing their height, and estrogen therapy with the purpose of inducing the puberty and sexual development. However, today there are ways which can help women with this syndrome to stay pregnant and have children, if they want to.

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