Turner Syndrome

What Is Turner Syndrome?

Turner syndrome is a genetic condition found in females only. It affects about 1 in every 2,500 girls.

Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.

What Causes Turner Syndrome?

Turner syndrome (TS) is the result of a chromosomal abnormality.

Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes. Half of the chromosomes are inherited from the father and the other half from the mother. A chromosome contains genes, which determine an individual's characteristics, such as eye color and height. Girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.

Turner syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed.

Girls born with the X condition in only some of their cells have mosaic Turner syndrome. Often, their signs and symptoms are milder than those of other girls with the non-mosaic condition.

What Are the Signs & Symptoms of Turner Syndrome?

Most girls with Turner syndrome are shorter than their peers, with an average final adult height of 4 feet 7 inches, and may have other related physical features.

These can include:

• "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
• unusual eye features, including drooping of the eyelids
• altered bone development, especially the bones of the hands and elbows
• a lack of breast development at the expected age (usually by age 13)
• irregular periods or no periods (amenorrhea)
• a larger than usual number of moles on the skin

What Problems Can Happen?

Girls who have Turner syndrome don't have typical ovarian development. They usually don't develop all the secondary sexual characteristics (the physical changes that usually happen in puberty) and are infertile (can't become pregnant) 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 happen with TS include kidney and heart problems, high blood pressure, obesity, diabetes mellitus, thyroid problems, ear infections with decreased hearing, and altered bone development.

Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in math. Many also struggle with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are more common in girls with TS.

They aren't at increased risk for major psychological problems, but some girls do have problems with body image or self-esteem and some also might have ADHD.

Despite these physical differences and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

How Is Turner Syndrome Diagnosed?

During a physical exam, a doctor may look for the physical features of Turner syndrome. These can vary widely — some girls with TS have many features or symptoms; others have only a few.

To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a karyotype test (chromosomal analysis). Results that indicate TS show only one X chromosome instead of two X chromosomes, with a total of 45 chromosomes instead of the usual 46. Some girls with Turner syndrome have two X chromosomes detected, but one is missing a piece.

Before birth, the condition may be found through karyotype or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. But these tests are not definitive for diagnosis of Turner syndrome. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

How Is Turner Syndrome Treated?

Because TS is a chromosomal disorder, there's no cure for the condition. But a number of treatments 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 often begins when a girl is 12 or 13 years old 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.
• Reproductive technologies can help women with Turner syndrome become pregnant. Fertilized donor eggs are used to create embryos, which can be inserted into the uterus of a woman with TS. With the help of hormone treatment, the woman can carry a developing fetus to term.

Learning Differences

Early consultation with a developmental pediatrician and screening for cognitive issues may help girls with Turner syndrome who have learning problems. A special set of tests (called psychoeducational evaluation) can identify specific problems. A girl's doctor can help decide whether this testing is right for her.

It's important to assess a girl's intellectual, learning, motor skills, and social maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help.

What Else Should I Know?

Girls with Turner syndrome might have specific medical problems and different physical characteristics. But you can help your daughter develop daily living skills and cope with new or challenging situations.

• Follow her lead on how much information she wants to share. Make sure she knows the facts and then allow her to explain TS to her friends and relatives, if she wants.
• Treat her according to her age (not her size) when considering how much responsibility you give her and the types of social activities she enjoys.
• Arrange your home 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 her if her feet don't reach the floor.
• Check her classroom environment. Ask for help from teachers to provide the right accommodations so that she can reach water fountains, classroom materials, and supplies.
• Help her cope with new situations and encourage her to ask her friends for help.
• Compliment her often on her strengths and coping skills. Be patient, positive, and open to discussions about her limitations and fears.
• Encourage participation in activities in which height isn't an issue, such as skating, diving, horseback riding, babysitting, or volunteer work. Volunteering, in particular, can be a big confidence booster.
• If she's depressed or has self-esteem problems, consider counseling with a mental health professional. Don't ignore your instincts 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.

(Note: Height-related issues may be less important to girls who have improved growth with growth hormone treatment.)

Turner syndrome can affect your daughter in many ways, but it's only a small part of who she is. If needed, get help and support from her doctor, developmental pediatrician, or other medical specialists and mental health providers.