Turner Syndrome

Pediatric Diabetes and Endocrinology

Turner Syndrome

What is Turner Syndrome?

Turner Syndrome is a rare chromosomal disorder that affects only females and is characterized by only one normal X chromosomes, with the other either being missing or abnormal. It occurs in approximately 1 in 3000 new born babies annually and affects approximately 70,000 women in the United States.

Turner Syndrome affects people in widely different ways, but common symptoms include:

  • Shorter than average height: Young women with Turner Syndrome are often less than 5 feet tall.
  • "Shield" chest: A broad chest with widely-spaced nipples.
  • Eye problems, including crossed eyes, lazy eyes and drooping eyelids.
  • Ovaries do not develop normally: The ovaries produce sex hormones necessary to puberty, the development of secondary sexual characteristics and fertility.
  • Learning disabilities, particularly those associated with visual/spatial relationships.
  • Lymphedema: A disorder of the lymphatic system that results in swelling of the hands and feet.
  • Coarctation of the aorta: A narrowing of the aorta - a valve that delivers blood to the heart - which causes the heart to pump harder.

What causes Turner Syndrome?

The cause of Turner Syndrome is abnormal chromosomal development leading to only one intact X chromosome instead of two. Some girls have mosaic Turner Syndrome, where some of their genetic material includes only one normal X chromosome, but the rest of the genetic material has two normal X chromosomes.

How is Turner Syndrome diagnosed?

Turner Syndrome is often diagnosed by looking at a young woman's chromosomes. More and more, Turner Syndrome is identified by chromosomal analysis prior to birth.

How is Turner Syndrome treated?

Treatments for Turner Syndrome vary according to each girl’s situation and how the chromosomal change has affected her heart function, growth and development. At American Family Children’s hospital, we offer a multidisciplinary clinic that brings several specialists together to optimize care.

  • Growth hormone therapy can help some patients achieve a functional height
  • Sex hormone replacement therapy can help patients attain puberty