What is Turner Syndrome?

Turner syndrome is a chromosomal disorder that only occurs in females. Normally, females have two “X” sex chromosomes. With Turner syndrome, one of the X chromosomes is missing or incomplete. Girls with Turner syndrome have medical and developmental problems but can lead normal lives with proper medical care.

What are the causes?

  • Monosomy – complete absence of an X chromosome
  • Mosaicism – an error in cell division after the egg has been fertilized. When this happens some cells in the body have two complete copies of the X chromosome and some cells have only one copy. Other cells have one complete copy and one altered copy.
  • Y chromosome material – Y chromosome is normally only present in males. Rarely, some Y chromosome material will be in the cells. The child will develop as a girl but will have an increased risk of gonadoblastoma (cancer – a germ cell tumor)

Treatments for Turner Syndrome:

  • Growth Hormone – to increase height
  • Hormone therapy- estrogen and other sex hormones are given so that the girl begins puberty and develops sexually

What can I do?

  • Ensure your daughter has regular medical exams
  • Have your daughter join a peer group for girls with Turner syndrome and/or join a support group yourself
  • When the time comes, help your daughter transition her care to adult doctors that specialize in women with Turner syndrome


It is important to remember the health information found on this Web site is for reference only not intended to replace the advice and guidance of your health care provider. Always seek the advice of your physician with any questions you may have regarding a medical condition. If you think you may have a true medical emergency, call 911 immediately.


  • Wide or web like neck
  • Receding or small lower jaw
  • High, narrow palate (roof of mouth)
  • Low set ears
  • Low hairline at back of head
  • Drooping eyelids
  • Broad chest with wide-set nipples
  • Short hands
  • Cubitus valgus – arms that turn outward at the elbows
  • Fingernails turned upward
  • Swollen hands and feet
  • Smaller than average height at birth
  • Delayed growth
Additional symptoms include:
  • Symptoms of Turner syndrome in older girls and adolescents:
  • No growth spurts
  • Short stature
  • Learning disabilities
  • Difficulty in social situations
  • Failure to begin sex changes that occur with puberty – due to ovarian failure and little or no hormone production
  • “Stalled” sexual development
  • Inability to conceive without fertility treatment