Turner Syndrome
December 10, 2004 02:36:04 AM PST , KidsHealth.org

Turner syndrome is a medical condition that affects approximately one in every 3,000 females. Dr. Henry Turner, an endocrinologist, first described the condition in 1938 when he observed a set of common physical features in some of his female patients, but it wasn't until 1960 that a chromosomal abnormality associated with the condition was actually described.

What Is Turner Syndrome?
"Turner syndrome is [the result of] a chromosomal abnormality in which a female infant is born with only one X chromosome, instead of the usual two [or is missing part of one X chromosome]," explains Kevin R. Johnson, MD, a pediatrician in Gainesville, Georgia. In most cases, untreated females with this disorder are typically short in stature (average final adult height is 4 feet and 7 inches) and may have a variety of associated physical features and medical problems.

Because females with Turner syndrome (TS) do not have proper ovarian development, they usually fail to develop secondary sexual characteristics during adolescence and are infertile as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.

Other complications of TS may include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, cataracts, thyroid problems, and arthritis.

Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in mathematics. Many also have a problem with tasks requiring spatial skills, such as map reading, or visual organization.

Although they are not at increased risk for psychological problems, some girls do have problems with body image or self-esteem. Children with this disorder may also be hyperactive.

How Is Turner Syndrome Diagnosed?
Upon physical examination, your child's doctor may note certain features, such as a lack of breast development, a webbed neck, short stature, and abnormal development of the arms.

"A special blood test called a karotype is used to identify patients with this problem," Dr. Johnson says. Several physical characteristics may be noted at birth, which can alert your child's doctor to the possibility of TS and cause him or her to order the karotype. A karotype test that indicates TS reveals 45 chromosomes (only one X chromosome), instead of the normal 44 autosomes and 2 X chromosomes (XX) typically found in females. In some girls with TS, two X chromosomes may be present, but one is misshapen or missing a piece.

The identifying physical features of TS include: [list][*]short stature [*]webbed neck [*]low hairline at the back of the head [*]abnormal eye features (drooping of eyelids) [*]abnormal bone development [*]lack of breast development at the expected age (usually by age 13) [*]absence of menstruation (amenorrhea)[/list:u] People who have TS may vary widely in their characteristics or symptoms of the disorder. Some may have many features or symptoms, whereas others experience only a few. With appropriate medical care, early intervention, and ongoing support, a person with TS can lead a normal, healthy, and productive life.

Treating Turner Syndrome
Because TS is a chromosomal disorder, there is no cure for the condition. However, there are a number of treatments that can help: [list][*]Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height. The U.S. Food and Drug Administration has approved growth hormone for the treatment of TS, and many insurance plans now cover this special treatment. [*]Estrogen replacement therapy is often initiated when the child reaches 12 or 13 years of age to stimulate the development of secondary sexual characteristics (breast development and menstrual periods). This therapy will not reverse infertility. [*]Cardiac surgery may be necessary to correct specific heart defects. [*]Recently developed reproductive technologies can help women with TS become pregnant. Fertilized donor eggs can be used to create embryos, which can be inserted into the uterus of women with TS. With the help of hormone treatment, these women carry developing fetuses to term.[/list:u] Learning Differences
Most girls with TS have normal intelligence. However, there are some who have learning problems. Early consultation with a developmental pediatrician may help these patients.

Dr. Johnson adds that your daughter can be screened to determine whether she has a cognitive problem that may affect her education. "In addition to developmental pediatric evaluation, a special battery of tests called psychoeducational evaluation can be used to identify specific weaknesses. Your child's doctor can help you determine whether such testing is appropriate for your child."

Tina Jones, a spokesperson for the Turner's Syndrome Society of the United States, stresses the importance of assessing your child's intellectual, learning, and motor skills and social maturity before enrolling her in kindergarten. "If cognitive strengths and weaknesses are identified, early preventive and intervention strategies, if needed, can be implemented in a timely fashion," she explains.

Helping Your Child
Although your daughter may have specific medical problems and different physical characteristics caused by TS, there are many things that you can do to help her cope with daily living skills and new situations: [list][*]Follow her lead in how much information she wants to share with others.[*]Allow her to explain TS to her friends and family members if she wants. [*]Treat her according to age (not size) when considering the amount of responsibility given to her and the types of social activities in which she engages. [*]Arrange your home environment so that it is comfortable for her (provide sturdy footstools in the bathroom and kitchen and easy access to clothing, closets, personal care items, and other necessities). [*]Kitchen chairs or stools that have rungs are especially helpful, as it can be tiring for your child if her feet don't reach the floor. [*]Carefully assess your child's classroom environment. Ask for help from your daughter's teachers to make appropriate accommodations to the classroom so that your child can reach water fountains, classroom materials, and supplies. The same suggestions apply to the school's library and gymnasium. [*]Assist your child in coping with new environments, such as classrooms and public settings. Encourage her to ask friends for help in dealing with new situations. [*]Compliment her often on her strengths and coping skills. Be patient and positive and open to discussions about her limitations and fears. [*]Allow your child to try on different clothing styles until she finds what flatters her or suits her personality. This can help build a more positive body image and self-esteem. [*]Encourage your child's participation in activities where height is not an issue, such as skating, diving, horseback riding, babysitting, or volunteer work. Volunteer work in particular can be an immense confidence booster. [*]If your daughter is depressed or having problems with her self-esteem, consider counseling and treatment by a mental health professional. Don't ignore your gut instinct if you think she's sad or withdrawn. [*]Take care of yourself. You won't be able to provide good care for your daughter if you neglect your own needs. Your community may offer TS support groups, or you may want to join the Turner's Syndrome Society of the United States. Or consider starting your own support group for parents.[/list:u] Keep in mind that, although TS affects your child in many ways, it's only a small part of her total physical, emotional, and intellectual being. Don't let her diagnosis or medical problems define who she is. Don't hesitate to enlist the help of your child's doctor or developmental pediatrician, appropriate medical specialists, and mental health professionals.