Turner Syndrome (Genetic Disorder)

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Turner syndrome is a genetic condition found in girls. Normally, girls have two X chromosomes (KRO ma somes). Girls with Turner syndrome have one X chromosome. The second X chromosome is either missing or formed the wrong way. Nothing you did before or during pregnancy caused Turner syndrome.

Common Features

Girls with Turner syndrome may:

  • Have normal intelligence
  • Be short
  • Have poor sense of direction
  • Have poor social skills
  • Mature late
  • Not be able to get pregnant naturally
  • Not have fine motor skills

Signs and Symptoms

Girls with Turner syndrome are at greater risk of having heart, kidney or thyroid problems.

Early signs of Turner syndrome:

  • Low-set ears
  • Delayed growth
  • Low hairline
  • Puffy hands and feet
  • Arms that turn out slightly at the elbows
  • Frequent ear infections
  • Short fingers and toes
  • Several skin folds around the neck

Later signs of Turner syndrome:

  • Blood sugar problems
  • Curve in the spine
  • Delayed puberty
  • Thyroid problems
  • High blood pressure
  • Ovarian failure
  • Short stature


No one knows what causes Turner syndrome. Girls who are short for their age for no explained reason should have a karyotype (KAR e o type). A karyotype is a blood test to find out their total number of chromosomes and the sex chromosomes.


Treatment for Turner syndrome includes regular checkups and hormone replacement therapy. There is no known cure. Treatment may be:

  • Growth hormone for short stature
  • Estrogen therapy for breast development and menstruation
  • Thyroid hormone replacement

Follow–up Appointments

  • Schedule regular follow-up appointments for your child with her doctor.
  • Write down all your questions as you think of them. Bring the list with you when you see the doctor. Be sure to call if you cannot keep the appointment.
  • The Genetics Clinic phone number is 614-722-3535. The number for the Endocrinology Clinic is 614-722-4425.

Turner Syndrome (PDF)

HH-I-349 9/12 Revised 3/15 Copyright 2012, Nationwide Children's Hospital