Turner syndrome, also known as monosomy X or gonadal dysgenesis, is a rare genetic disorder that only occurs in girls and is characterized by the total or partial absence of one of the two X chromosomes.
The absence of one of the chromosomes leads to the appearance of typical features of Turner syndrome, such as short stature, excess skin on the neck and enlarged chest, for example.
- Diagnosis is performed by observing the characteristics presented.
- As well as performing molecular tests to identify the chromosomes.
Turner syndrome is rare and occurs in about 1 in 2000 live births. The main features of this syndrome are:
Mental retardation rarely occurs, but many girls with Turner syndrome have difficulty orienting themselves in space and tend to have low test scores that require dexterity and arithmetic, although verbal intelligence tests are normal or higher than normal.
The treatment of Turner syndrome is based on the characteristics that the person presents and hormonal replacement, mainly growth hormone and sex hormones, is normally recommended by the doctor, so that growth is stimulated and the sexual organs can develop properly. Surgery can be used to remove excess skin on the neck.
If the person also has cardiovascular or kidney problems, it may also be necessary to use medications to treat these changes and thus allow a healthy development of the girl.