Turner Syndrome

Turner syndrome is a medical disorder that affects about one in every 2,500 girls. 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. It wasn't until 1960 that a chromosomal abnormality associated with the condition was actually described.

What Is Turner Syndrome?

Turner syndrome results from 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. In most cases, untreated females with this disorder are typically short in stature (average final adult height is 4 feet 7 inches [140 centimeters]) and may have a variety of associated physical features and medical problems.
Because females with Turner syndrome (TS) don't have proper ovarian development, they usually don't develop all of the secondary sexual characteristics expected 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 health problems that may occur with Turner syndrome include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, cataracts, thyroid problems, and arthritis.

Girls with Turner syndrome 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. Hearing problems are also more common in girls with Turner syndrome.

Although they aren't 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.
Despite the physical differences and other problems that can occur in Turner syndrome, with appropriate medical care, early intervention, and ongoing support, a person with Turner syndrome can lead a normal, healthy, and productive life.
How Is Turner Syndrome Diagnosed?
Upon physical examination, a doctor may note certain physical features of Turner syndrome, which may include:
short stature
"webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
a low hairline at the back of the head
low-set ears
abnormal eye features, including drooping of the eyelids
abnormal bone development, especially the bones of the hands and elbows
a lack of breast development at the expected age (usually by age 13)
an absence of menstruation (amenorrhea)
a larger than usual number of moles on the skin
People who have Turner syndrome may vary widely in their characteristics or symptoms of the disorder. Some may have many features or symptoms, whereas others may experience only a few.
A special blood test that looks at a person's chromosomes - called a karyotype - is used to diagnose Turner syndrome. 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 a karyotype. A karyotype test that indicates Turner syndrome 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 are present, but one is misshapen or missing a piece.
Treating Turner Syndrome
Because Turner syndrome is a chromosomal disorder, there's no cure for the condition. However, there are a number of treatments that can help.
Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height - often into the normal range if treatment is started early enough. The U.S. Food and Drug Administration (FDA) has approved growth hormone for the treatment of Turner syndrome, and most insurance plans now cover this special treatment.
Estrogen replacement therapy is often started 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, however.
Cardiac surgery may be necessary to correct specific heart defects.
Recently developed reproductive technologies can help women with Turner syndrome become pregnant. Fertilized donor eggs can be used to create embryos, which can be inserted into the uterus of a woman with Turner syndrome. With the help of hormone treatment, the woman can carry a developing fetus to term.
Learning Differences
Most girls with Turner syndrome have normal intelligence. However, there are some who have learning problems. Early consultation with a developmental pediatrician may help these patients.
Girls with Turner syndrome can be screened to determine whether cognitive problems may affect their education. Also, a special battery of tests called psychoeducational evaluation can be used to identify specific problems. Your daughter's doctor can help you determine whether this type of testing is appropriate for your child.
The Turner 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 learning problems are identified, early preventive and intervention strategies, if needed, can be implemented in a timely fashion.

Helping Your Child

Although your daughter may have specific medical problems and different physical characteristics caused by Turner syndrome, there are many things you can do to help her develop her daily living skills and cope with new or challenging situations:
Follow her lead in how much information she wants to share with others. Make sure she knows the facts and then allow her to explain Turner syndrome to her friends and family members, if she wants.
Treat her according to her age (not her 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's 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 daughter if her feet don't reach the floor.
Carefully assess your child's classroom environment. Ask for help from your daughter's teachers to provide appropriate accommodations in the classroom so that she 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 other new environments. Encourage her to ask friends for help in dealing with new situations.
Compliment her often on her strengths and coping skills. Be patient, 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 in which height isn't 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 Turner syndrome support groups, or you may want to join the Turner Syndrome Society of the United States. Or consider starting your own support group for parents.
Keep in mind that although Turner syndrome can affect your daughter in many ways, it's only a small part of her total physical, emotional, and intellectual being. Don't hesitate to enlist the help of your child's doctor, developmental pediatrician, or other medical specialists and mental health professionals. And don't let your daughter's diagnosis or medical problems define who she is.
Reviewed by: Judith Ross, MD, and Steven Dowshen, MD