What is Turner Syndrome?

Turner Syndrome (TS) is a chromosomal condition that exclusively affects girls and women. TS occurs when one of the two X chromosomes normally found in females is missing or incomplete. The syndrome is named after Dr. Henry Turner, who was among the first to describe the features in 1930s.

TS affects 1/ 2,500 live female births.

There are over 71,000 women and girls living with TS across the United States.

It is estimated that only about 1% of fetuses with only one X chromosome survive to term and that approximately 10% of all miscarriages are due to Turner syndrome.

Diagnosis of Turner syndrome is confirmed by a blood test called a karyotype, which analyzes the chromosomal composition of the individual.

Are there common characteristics of Turner syndrome?

The most common features include short stature and gonadal dysgenesis, although many organ systems and tissues may also be affected to a lesser or greater degree.

The average adult height of a woman with Turner syndrome is 4’8″; however, growth hormone therapy can increase final adult height.

Gonadal dysgensis can cause incomplete sexual development and ovarian failure and infertility.

Other symptoms/characteristics of Turner syndrome:

  • Congenital heart defects
  • Renal abnormalies
  • Hypertension
  • Conductive and sensorineural hearing loss
  • Mild malformation of outer ear and low set ears
  • Speech problems
  • Strabismus, amblyopia and ptosis
  • Dental abnormalities (narrow, high arched palate)
  • Obesity
  • Lymphedema (webbed neck, edema of hands and feet)
  • Nonverbal, visual-spatial processing learning disabilities

Coutesy Turner Syndrom Society of the U.S. (www.turnersyndrome.org).