Turner syndrome: causes, characteristics and pregnancy

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Turner syndrome is a chromosomal disorder characterized by the total or partial loss of one of the sex chromosomes in the female gender. Therefore, the karyotype of these women will be 45, X0 instead of the normal karyotype that is 46, XX.

The symptoms of this pathology are very variable, although the majority of women present a low structure and alteration of the development of sexual characteristics.

Turner syndrome is also a cause of endocrine infertility due to the ovarian failure of these women and the risk of transmitting the chromosomopathy in their offspring.

Below you have an index with all the points that we will discuss in this article.

Index

Definition

Turner syndrome, also known as Ullrich-Turner syndrome, is a genetic disorder that affects the development of girls due to the lack of an X chromosome.

There are different degrees of severity because, sometimes, the loss of the X chromosome is not complete or the alteration occurs in mosaicism, that is, some cells of the organism are normal and others have the chromosomal alteration (46, XX / 45, X0).

In these cases, affected girls can show some signs of puberty and even between 2 and 5% become fertile.

Turner syndrome consists of the monosomy of the X chromosome, that is, only one of the sex chromosomes is functional because the other is absent or incomplete.

In the most favorable cases of Turner syndrome, the symptoms are not very marked and are not easily evident. There are women who are not diagnosed until the analysis of karyotype is made by having repeat miscarriages, babies with malformations or after a genetic study of stillbirths.











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