Turner syndrome, also called X monosomy or gonadal dysgenesis, is a rare genetic disease that affects only females and is characterized by the total or partial absence of one of the two X chromosomes.
The lack of one of the chromosomes leads to the appearance of characteristics typical of Turner syndrome, such as short stature, excess skin on the neck and enlarged chest, for example.
The diagnosis is made by observing the characteristics presented by the person, as well as performing molecular tests to identify chromosomes.
Features of Turner's syndrome
Turner syndrome is rare, occurring in approximately 1 in every 2, 000 live births. The main features of this syndrome are:
- Short stature, the person can reach up to 1.47 m in adulthood; Excessive skin on the neck; Winged neck joined to the shoulders; Hair implant line on the low nape; Dropped eyelids; Wide chest with well separated nipples; Many covered protrusions by dark hairs on the skin; delayed puberty, with no menstruation; breasts, vagina and vaginal lips 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 find it difficult to orient themselves spatially and tend to score poorly on tests that require dexterity and calculation, although on verbal intelligence tests they are normal or superior to normal.
How is the treatment
The treatment for Turner's syndrome is done according to the characteristics presented by the person, and hormone replacement, mainly of growth hormone and sex hormones, is normally recommended by the doctor, so that growth is stimulated and the sexual organs are able to develop correctly.. In addition, plastic 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 medication to treat these changes and, thus, allow the girl's healthy development.
