Turner Syndrome - Causes, Symptoms and Treatment of Turner Syndrome

Turner syndrome is a genetic condition affecting females caused by a partially or completely missing X chromosome. Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide.

Most humans have 46 chromosomes or 23 pairs of chromosomes. Contained in the chromosomes are your genes and DNA. The last pair of chromosomes (23rd pair) determine whether you become a boy or a girl. Normally, females have two of the same sex chromosomes, which is written as XX. Males, on the other hand, have an X and a Y chromosome, written as XY.


The exact cause of Turner syndrome is still unclear. However, scientists believe that the condition may occur as result of a random error during the formation of either the eggs or sperm.

What scientists do know is that, females who have Turner syndrome are missing all or part of one of their X chromosomes. Most commonly, the girl has only one X chromosome in her cells. In some cases, the girl may have two of the X chromosomes, but one of them is incomplete. In other females with the condition, some of their cells have both X chromosomes, but the other cells have only one.

Signs and Symptoms

Signs and symptoms of Turner syndrome may vary from mild to severe. But almost all of the girls who have the condition are shorter than the average. They may have an average growth during their first three years of life. But after that, they experience slow growth rate. They do not have the usual growth spurt during puberty as other normal children.

Most women with Turner syndrome also have non-functioning ovaries and are usually unable to bear child (infertile). However, their vagina and womb are totally normal. In most cases, they do not start their periods or develop breasts without hormone treatment at the age of puberty.

Additional symptoms of Turner syndrome include the following: (NHGRI, 2010)

  • An especially wide neck (webbed neck) and a low or indistinct hairline.

  • A broad chest and widely spaced nipples.

  • Arms that turn out slightly at the elbow.

  • A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart).

  • A tendency to develop high blood pressure (so this should be checked regularly).
  • Minor eye problems that are corrected by glasses.

  • Recurrent middle ear infections

  • Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome.

  • The thyroid gland becomes under-active (hypothyroidism) in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement.

  • Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes.

  • Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.


Currently, scientist have not yet found a cure for Turner syndrome. But there are some treatments that can help minimize the symptoms including:
  • Human growth hormone (hGH) given in early childhood can often increase adult height by a few inches.

  • Estrogen replacement therapy (ERT) can help start up secondary sexual development that normally begins at puberty for girls without Turner (such as breast development or developing wider hips). Health care providers may prescribe ERT to girls who haven’t started menstruating by age 15.

  • Assistive reproductive therapies, such as egg donation, may help some women with Turner get pregnant.

  • Babies born with a heart murmur or narrowing of the aorta may need surgery to correct the problem. A heart expert (cardiologist) will assess and follow up any treatment necessary.

  • Girls who have Turner syndrome are more likely to get middle ear infections. Repeated infections may lead to hearing loss and should be evaluated by the pediatrician. An ear, nose and throat specialist (ENT) may be involved in caring for this health issue.

Suggested Readings

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Turner Syndrome (http://www.nichd.nih.gov/health/topics/Turner_Syndrome.cfm). Accessed on September 23, 2010
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Clinical Features of Turner Syndrome (http://turners.nichd.nih.gov/clinical.html). Accessed on September 23, 2010
  • National Human Genome Research Institute (NHGRI). Learning About Turner Syndrome (http://www.genome.gov/19519119). Accessed on September 23, 2010

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