Turner Syndrome

What is Turner syndrome?

Turner syndrome is a genetic condition due to partial or complete absence of one of the two X chromosomes usually present in females. It affects one in every 2,000 to 2,500 females and does not affect males.

What are the characteristics of Turner syndrome?

Short stature is the most common feature affecting about 95 percent of individuals. The average height of affected adult woman without treatment is about 4 feet, 8 inches. The other main characteristic is poor development of the ovaries resulting in failure to go through puberty in many girls, and causing infertility in most.

Other physical features present in some individuals include:

Broad chest with widely spaced nipples that may be inverted
Stocky appearance
Narrow, high-arched palate (roof of mouth) and crowded teeth
Receding jaw
Thick, shorter neck (in some cases, may have a "webbed" appearance)
Low hairline at the back of the neck
Prominent ears
Arms that turn out at the elbow
Soft, narrow fingernails and toenails that point upward

Do females with Turner syndrome face mental challenges?

Individuals with Turner syndrome may have increased problems with nonverbal learning. This may result in a learning style that makes verbal learning come more easily, and math or spatial problems more difficult.

Characteristics of this type of learning problem include:

Difficulty imagining objects in relation to each other (visual-spatial processing), difficulty driving, poor sense of direction, difficulty reading a map
Trouble appreciating subtle social cues, such as facial expressions (social cognition)
Problems with nonverbal problem-solving, such as math problems
Clumsiness (psychomotor problems and poor manual dexterity)

However, with early detection, determination and patience, many challenges may be overcome or compensated for. As with anything else, positive reinforcement and encouragement enable girls and women with Turner syndrome to lead productive, successful lives.

Medical treatments for patients with Turner syndrome

Some approaches to improve the outcome for girls and women with Turner syndrome include:

Growth hormone (e.g., Humatrope) may increase adult height. Humatrope is approved by the Food and Drug Administration (FDA) for treatment of Turner syndrome and is covered by most insurance plans.
Estrogen replacement therapy will promote development of secondary sexual characteristics. This therapy also is important for maintaining good tissue and bone integrity.
Modern reproductive technologies may enable women with Turner syndrome to become pregnant in certain cases.
Problems involving the heart/cardiovascular system, kidneys, ears/hearing and thyroid gland also are frequently experienced by women and girls with Turner syndrome. However, these also may be successfully treated with early and consistent medical care.

Remember, not everyone experiences every problem associated with Turner syndrome. Your child's pediatric endocrinologist is your best resource!

Important Information for Patients with Turner Syndrome – In a randomized, concurrent controlled trial, there was a statistically significant increase in the occurrence of otitis media (43% vs. 26%), ear disorders (18% vs. 5%) and surgical procedures (45% vs. 27%) in patients receiving Humatrope compared with untreated control patients. Other adverse events of special interest to Turner syndrome patients were not significantly different between treatment groups. A similar increase in otitis media was observed in an 18-month placebo-controlled trial. Humatrope is used for the treatment of short stature associated with Turner syndrome as long as the patient has open epiphyses (the growth plates at the ends of the long bones).

How may I help my daughter adapt to or cope with her shorter stature?

Click here for information about helping your daughter cope with short stature.

Where do I find help/evaluation for my daughter with learning disabilities and where can I find more information about Turner syndrome?

For more information or potential support groups in your area, please contact The Turner Syndrome Society of the United States at:
Internet: www.turnersyndrome.org
Email: tssus@turnersyndrome.org
Phone: (800) 365-9944