Turner Syndrome

What is Turner Syndrome?

Turner syndrome is a genetic disorder that affects females. It occurs when a baby has a missing or incomplete X chromosome. It may take one of three forms:
  • missing an entire X chromosome (most common)
  • two X chromosomes, but one that is incomplete
  • some cells with two X chromosomes, and others with only one

Girls who are missing only part of a chromosome usually have milder symptoms.

Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones and kidneys. Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in a failure to reach puberty and infertility. Many are also short in stature.

Turner syndrome occurs in about one out of every 2,500 females.

How we care for Turner syndrome

Boston Children’s Division of Endocrinology is one of the world's leading centers for the treatment of children and adolescents with endocrine disorders. Caring for more than 7,000 patients each year, our division is one of the largest pediatric endocrinology practices in the United States.

As a major pediatric care center, we offer direct access to the wide range of specialists children with Turner syndrome may need, including our top-ranked team of cardiologists at the Benderson Family Heart Center