Turner syndrome is a rare genetic disease that appears only in girls, caused by changes in the sperm or egg, or by an incorrect cell division of chromosomes during the early stages of embryo development, causing the child to have a total absence or partial of one of the two X chromosomes.
The partial or total absence of one of the X chromosomes causes the child to be born with certain characteristics, such as short stature, excess skin on the neck and enlarged chest, for example.
The diagnosis of Turner syndrome, also called monosomy X or gonadal dysgenesis, is made by the obstetrician during pregnancy or by the pediatrician after birth, through observation of the characteristics presented, as well as carrying out molecular tests to identify the chromosomes.
Features of Turner syndrome
The main characteristics of Turner syndrome are:
- Short stature at birth, with a person reaching up to 1.47 m in adult life;
- Excess skin on the neck;
- Webed neck joined to the shoulders;
- Low hairline on the back of the neck;
- Drooping eyelids;
- Wide chest with well-separated nipples;
- Many projections covered with dark hair on the skin;
- Delay in puberty, which may result in no menstruation;
- Breasts, vagina and labia are always immature;
- Ovaries without developing eggs;
- Cardiovascular changes;
- Kidney defects;
- Small hemangiomas, which correspond to the growth of blood vessels.
Mental retardation occurs in rare cases, but many girls with Turner syndrome have difficulty orienting themselves spatially and tend to score poorly on tests that require dexterity and calculation, although on verbal intelligence tests they are normal or above normal.
How to confirm the diagnosis
The diagnosis of Turner syndrome can be suspected by the obstetrician during pregnancy through a nuchal translucency exam, which must be performed between the 12th and 14th week of pregnancy, or ultrasound, which can indicate changes in the kidneys, heart or swelling in the baby’s body, known as hydrops fetalis.
In addition, the obstetrician can confirm the diagnosis through amniocentesis or chorionic villus sampling. Find out how amniocentesis is performed.
After birth, the diagnosis of Turner syndrome is made by the pediatrician, through a physical examination, analyzing the baby’s physical characteristics. However, these physical characteristics can also be found in other types of syndrome, such as Noonan syndrome, for example, and therefore, the pediatrician recommends a genetic test to assess the total or partial lack of the X chromosome and confirm the diagnosis.
Possible causes
Turner syndrome is caused by an error during sperm or egg formation, causing the child to be born with one of the X chromosomes partially (mosaicism) or completely missing (monosomy), in most or all cells of the body, resulting in the characteristics of the syndrome in girls.
In some cases, Turner syndrome may occur due to an error in cell division at the beginning of the embryo’s development, making it possible for only some cells in the body to have a total or partial absence of an X chromosome.
How the treatment is carried out
Treatment for Turner syndrome is carried out according to the characteristics presented by the person, with the doctor normally recommending hormone replacement, mainly growth hormone and sexual hormones, so that growth is stimulated and the sexual organs can develop correctly. . Additionally, plastic surgery can be used to remove excess skin from the neck.
If the person also has cardiovascular or kidney problems, it may also be necessary to use medication to treat these changes and, thus, allow the girl’s healthy development.
