Turner syndrome

This syndrome occurs only in women, with the average adult height being around 147 cm. Approximately 1 in 2,500 women have this syndrome.

In women with Turner syndrome the ovaries are underdeveloped and dysfunctional.

Cause

Turner syndrome is a genetic condition related to the X sex chromosome. Normally, women have two X sex chromosomes. People with this syndrome do not possess both X chromosomes or the chromosome may not be fully formed.

The X chromosome contains genes responsible for the development of the ovaries and the production of sex hormones. In women with Turner syndrome the ovaries are underdeveloped and dysfunctional, hence resulting in amenorrhea (lack of periods) and sterility.

If the sex chromosome is missing or not working properly, the ovaries will not function normally and no sex hormones will be made. 

Signs and Complications

  • Short stature 
  • Swelling of the hands and feet (lymphedema)
  • A broad and flat chest
  • A short, wide neck
  • Low, slightly protruding ears
  • Wide nails on the hands and feet
  • Small jaw
  • Low and irregular hairline across the neck
  • A broad nasal bridge
  • Delayed puberty.
  • Feeding problems: the infant has difficulty swallowing milk or spits it out.
  • Problems with the throat, nose and ears (e.g. ear infection).
  • Motor development may be slower.
  • Heart and kidney problems.
  • Hearing problems.
  • Infertility: in a few cases (less than 1%) in vitro fertilisation (IVF) treatment makes pregnancy possible.
  • Increased risk of diabetes and reduced thyroid function in later life.
  • Issues with learning – in particular maths and spacial awareness, as well as  memory and attention disorders.

Treatment

Treatment with growth hormone can help to promote growth. The best results are obtained when treatment is started before puberty. Treatment with sex hormones (estrogen and progesterone) can also help to bring about the physical changes of puberty such as breast development and menstruation.

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