Turner Syndrome

What Is Turner Syndrome?

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

Girls with Turner syndrome are usually shorter than their peers. The good news is that if TS is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller.

Early loss of ovarian function means that girls with TS also are infertile (can’t become pregnant). However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.

Girls with TS are all different. Some may have many physical differences and symptoms, whereas others have only a few medical problems. With the right medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

What Causes Turner Syndrome?

Turner syndrome 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. The chromosomes contain 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 a girl’s 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 X condition.

The condition is named for Dr. Henry Turner, an endocrinologist, who in 1956 noted a set of common physical features in some of his female patients.

What Are the Signs & Symptoms of Turner Syndrome?

Most girls with Turner syndrome who don’t get treatment are shorter than their peers, with an average final adult height of 4 feet 7 inches.

They can have other related physical features, such as:

• “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

What Problems Can Happen?

Girls who have Turner syndrome don’t have typical ovarian development. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with TS will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls will be infertile, or unable to become pregnant on their own.

Other health problems that may happen with TS include kidney problems, heart problems, high blood pressure, obesity, diabetes mellitus, vision problems, thyroid problems, and abnormal bone development.

Some girls with TS 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, as is ADHD. Some girls also have problems with body image or self-esteem.

How Is Turner Syndrome Diagnosed?

Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karyotype (pronounced: CARE-ee-oh-tipe). The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces.

In some cases, there are no clear signs that a girl has the condition until she reaches the age at which she would normally go through puberty.

If the karyotype blood test shows that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome.

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.
• Estrogen replacement therapy helps a girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment usually starts when a girl is about 12 or 13.
• Cardiac surgery may be necessary to correct specific heart defects.
• Reproductive technologies can help women with TS become pregnant. With in vitro fertilization, 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.

Looking Ahead

Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually:

• write well
• learn well by hearing
• memorize information as well as others
• develop good language skills

If you have Turner syndrome, you know that it can affect you in several ways. But it’s only a small part of your total physical, emotional, and intellectual self.

Here are some suggestions that can help you cope:

• Join a support group for girls with Turner syndrome. Ask your doctor or look online to find a Turner Syndrome Society chapter in your area.
• Stay active in sports or hobbies that you enjoy.
• Consider doing volunteer work. Helping other people can boost your self-esteem and your confidence, too.
• Consider talking to a professional therapist. A qualified counselor or other mental health professional can help you build your self-esteem and address your concerns about living with Turner syndrome. Discuss this with your parents if you think you might need help.
• Keep a journal or diary in which you can record your thoughts and feelings about the challenges you’re dealing with.
• Talk to your parents or school counselor if you are having problems at school.

If you have a friend who has Turner syndrome, remember to respect her emotional and physical needs. For example, she may not always feel comfortable talking about her condition, so let her share only what she feels OK with. You can support your friend just by hanging out and doing things you enjoy together and by being a good listener if she turns to you for advice or comfort.