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.

The symptoms of Turner syndrome can vary from girl to girl, depending on how much of the X chromosome is missing and which part is missing.

The most obvious symptom of Turner syndrome is a shorter-than-normal height. Girls with Turner syndrome usually have a decrease in growth percentiles starting between ages 4 and 6.

Other symptoms of Turner syndrome can include:

• Feeding problems during infancy
• Puffy hands and feet at birth, as well as a wideness and "webbing" of the neck
• A low hairline at the back of the neck
• Minor differences in the shape and position of ears
• A broad chest with widely spaced nipples
• An increased number of small brown moles (called nevi) on the skin
• Frequent ear infections
• Sparse pubic hair
• Incomplete breast development
• Inability to menstruate
• Vaginal dryness
• Skeletal problems
• Problems with spatial perception, non-verbal memory and attention

Turner syndrome is caused by a missing or incomplete X chromosome. It is not known why this occurs, but it is believed to occur randomly.

Turner syndrome may be diagnosed either before or after birth. The most reliable way is by using a blood test called a karyotype, a chromosomal analysis that has 99.9 percent accuracy.

Due to a wide variability in symptoms, some girls with Turner syndrome may not be diagnosed until the teen years or later. Once a diagnosis is made, your daughter’s doctor may recommend one or more of the following tests to see what organs are affected:

• Echocardiogram (heart ultrasound)
• Ultrasound of the reproductive organs and kidneys
• Pelvic exam
• Cardiac magnetic resonance imaging (MRI)

The specific treatment your child need depends on her individual symptoms and which organs are affected. Treatments may include:

• Growth hormone therapy to increase growth rate and achieve a greater final height
• Estrogen therapy to help develop secondary sexual characteristics
• Progesterone therapy to help bring on a monthly menstrual cycle
• Medications to treat high blood pressure, diabetes or thyroid problems, if needed
• Surgery or a procedure to repair heart problems sometimes found with this condition, such as bicuspid aortic valve or coarctation of the aorta

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.