Turner Syndrome

What is Turner syndrome?

Turner syndrome (TS) is a condition that affects only girls and women. Girls with TS have a similar set of features including short stature, lack of sexual development at puberty and a webbing of the neck. TS affects 1 in every 2,000 to 2,500 baby girls. Most girls with TS can expect to lead healthy, productive and happy lives.

Signs and symptoms of Turner syndrome

Girls and women with TS can have different signs and symptoms. Physical and mental development varies for every TS child.

Infant

  • heart and blood vessel abnormalities
  • extra skin folds at the side and back of the neck
  • small and puffy hands and feet

School-aged child

  • slow growth
  • smaller in stature compared with peers
  • recurrent ear infections
  • hearing problems
  • eye and vision problems
  • learning difficulties
  • wide set nipples
  • broad chest

Adolescent

  • does not develop breast tissue
  • does not menstruate at the expected age
  • low hairline at the back

Adult

  • irregular menstruation
  • fertility problems
  • heart problems
  • high blood pressure

Causes

Most girls are born with two complete X chromosomes. The X chromosomes are the sex chromosomes for females. TS is caused by the absence of all or part of the second X chromosome in some or all of the cells of the body.

Turner Syndrome Karyotype
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Normally there are two copies of the X chromosome in girls. Turner syndrome occurs when there is only one X chromosome.

Girls need 2 full X chromosomes for the development of a fully functional female reproductive system. Some girls inherit only 1 X chromosome, while other girls have parts of the second X chromosome but only in some cells. Doctors believe that this is caused by a spontaneous error in cell division. TS is not an inherited condition.

Complications

Many girls with TS lead healthy lives. Some girls, however, have minor-to-severe complications, including:

  • infertility
  • heart abnormalities
  • chronic or recurrent middle ear infections and hearing loss
  • feeding problems in infancy and childhood
  • kidney and urinary tract abnormalities
  • diabetes
  • eye problems
  • high arched palate with associated dental problems
  • curvature of the spine (scoliosis)
  • celiac disease
  • obesity
  • brittle bones (osteoporosis)
  • high blood pressure
  • visual spatial learning challenges
  • difficulty with social skills

What can a doctor do for your daughter with Turner syndrome

Your daughter’s doctor will conduct a physical examination. The doctor will then take a series of tests. Most girls are diagnosed when they are very young, although girls and women can be diagnosed with TS at different stages of life. Pregnant women can test their babies during the prenatal period. This test is called a ‘karyotype’. Women in young adulthood may get tested when they experience fertility problems. Some girls are treated with hormones to stimulate puberty and growth. Your daughter may be referred to a specialist if she has heart problems or other complications. Once diagnosis is confirmed, your daughter’s doctor will help with education and counselling. Your daughter may need to seek the support of other girls with the condition. Groups like the Turner Syndrome Society of Canada can offer resources and family support.

When to seek medical assistance

If you suspect your daughter may have TS, make an appointment with your child’s doctor right away.

Prevention

There is no known way to prevent TS. Pregnant women can test their babies during the prenatal period. This test is called a ‘karyotype’.

Key points

  • Turner syndrome affects only girls and women.
  • Girls with TS have a similar set of features including short stature, lack of sexual development at puberty, and webbing of the neck.
  • Most girls with TS can expect to lead healthy, productive, and happy lives.
  • TS is not an inherited condition, but it is due to a missing chromosome.
  • Complications include heart abnormalities and scoliosis.
  • Some girls are treated with hormones to stimulate growth and puberty.

Sheila Jacobson, MBBCh, FRCPC

3/17/2010

Turner Syndrome Society of Canada “About Turner Syndrome”: http://www.turnersyndrome.ca/turnerssyndrome.html. Last accessed March 2010.





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