I recognize a Turner syndrome by these symptoms | Turner Syndrome

I recognize a Turner syndrome by these symptoms

There are a number of possible symptoms that can occur in Turner syndrome. However, these do not all occur simultaneously. Some symptoms can also be age-related.

Already at birth, newborns are conspicuous by lymphedema of the backs of the hands and feet. The dwarfism is also noticed early. Affected girls usually only reach an average height of 1.47m.

Further physical changes can occur like: Malformations of internal organs (e.g. heart defects, malformations of the kidneys and ureters) Underdeveloped genitals Shortened metacarpal bone (Os metacarpale IV) Deformations of the thorax (e.g. shield thorax) Deep hairline in the neck Pterygium colli (wing-shaped fold on the side of the neck) Many liver spots Early osteoporosis Mental development usually proceeds normally and there is no reduction in intelligence. Due to the absence or hypofunction of the ovaries, puberty and menstruation (primary amenorrhea) do not occur in adolescence.

Women with Turner syndrome are usually infertile.

  • Malformations of internal organs (e.g. heart defects, malformations of the kidneys and ureters)
  • Underdeveloped genital
  • Shortened metacarpal bone (Os metacarpale IV)
  • Deformations of the thorax (e.g. thyroid thorax)
  • Deep hairline in the neck
  • Pterygium colli (wing-shaped fold at the side of the neck)
  • Many liver spots
  • Early Osteoporosis

Treatment

The therapy of Turner syndrome requires the cooperation of many specialists such as pediatricians, endocrinologists (specialists in hormone treatment), gynecologists and family doctors. Only a symptomatic therapy is possible. The dwarfism should be treated early on with growth hormones in the form of injections under the skin.

Through this treatment, an increase in size of six to eight centimeters can be achieved in the best case. At the age of about 12 years, puberty is induced by estrogen and progesterone preparations. The estrogens are taken regularly for three weeks after the initiation phase.

A one-week break follows. This mimics a normal cycle, resulting in menstrual bleeding and regular formation of the external genitals. The therapy with estrogens is continued for life, also to prevent osteoporosis. The disease with its symptoms can be very stressful for those affected. For this reason, psychotherapy started early can be helpful.