General Practice 2022

SíTurner syndrome: what é, featuresístics and treatment

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SíTurner syndrome: what é, featuresístics and treatment
SíTurner syndrome: what é, featuresístics and treatment

Turner syndrome, also called monosomy of the X or gonadal dysgenesis, is a rare genetic disease that occurs only in girls and is characterized by the total or partial absence of one of the two X chromosomes.

Missing 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.

The diagnosis is made by observing the characteristics presented, as well as performing molecular tests to identify the chromosomes.

Main features of the syndrome

Turner Syndrome is rare, occurring in approximately 1 in 2,000 live births. The main characteristics of this syndrome are:

  • Short stature, reaching up to 1.47 m in adulthood;
  • Excess skin on the neck;
  • Winged neck joined to shoulders;
  • Line implantation of hair at the nape of the neck;
  • Sagging eyelids;
  • Broad chest with well-spaced nipples;
  • Many bumps covered by dark hairs on the skin;
  • Delay in puberty, and there may be no menstruation;
  • Breasts, vagina and labia 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 tests of verbal intelligence are normal or higher than normal.

How the treatment is done

Treatment for Turner syndrome is done according to the characteristics presented by the person, and the doctor usually recommends hormone replacement, especially growth hormone and sex hormones, so that growth is stimulated and the organs sexual intercourse can 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 he althy development.

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