Turner Syndrome

What is Turner syndrome (TS)?

Turner syndrome (TS), sometimes referred to as congenital ovarian hypoplasia syndrome, is a genetic disorder. It is the most common sex chromosomal abnormality affecting girls and women. More specifically, it’s a problem with one of the two X chromosomes -- the thread-like structures inside cells that are made of DNA. We get our DNA from our parents and it is the DNA that contains the specific instructions that make each living creature unique!

Turner syndrome is a congenital condition, meaning it's something a person is born with. Each of us is born with two chromosomes. If you're female, you were born with two X chromosomes. If you're a male, you are born with one X and one Y chromosome. Turner Syndrome occurs when one of the X chromosomes is missing, either partially or completely.

Turner syndrome often causes short stature, typically noticeable by age 5. It usually doesn’t affect intelligence but can lead to developmental delays especially with calculations and memory. Heart problems are common, too. While TS can somewhat shorten life expectancy, screening for and treating known related conditions helps protect health.

Is Turner syndrome inherited?

Turner syndrome is a genetic disorder, but it’s usually not inherited, except in rare cases. An inherited genetic condition means that a parent (or both parents) passed down a mutated, or changed, gene. In Turner syndrome, the chromosome change happens randomly before birth.

What are the types of Turner syndrome?

The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome:

• Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people with TS have this type. It comes from the mother’s egg or the father’s sperm randomly forming without an X chromosome. After fertilization, the baby’s cells also contain this defect.
• Mosaic Turner syndrome: Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. Some of the baby’s cells have a pair of X chromosomes, while other cells only have one. It happens randomly during cell division early in pregnancy.

• Inherited Turner syndrome: In rare cases, babies may have inherited TS, meaning their parent (or parents) were born with it and passed it on. This type usually happens because of a missing part of the X chromosome.

How common is Turner syndrome?

Worldwide, about 1 in every 2,500 female babies is born with Turner syndrome. It’s the most common sex chromosomal abnormality found in women.

What causes Turner syndrome?

Turner syndrome happens when one of a female baby’s two X chromosomes is missing or incomplete. Researchers don’t yet understand why this happens.

What are the symptoms of Turner syndrome?

The main symptom of Turner syndrome is short stature. Almost all females with TS:

• Grow more slowly than their peers during childhood and adolescence.
• Have delayed puberty and lack of growth spurts, resulting in an average adult height of 4 feet, 8 inches. (If diagnosed early, growth hormone can help the person reach near-normal height).

Another symptom is not experiencing typical sexual development. Most females with TS:

• Don't experience breast development.
• May not have menstrual periods.
• Have small ovaries that may only function for a few years or not at all.
• Typically don't go through puberty, unless they get hormone therapy in late childhood and early teens.
• Don't make enough sex hormones.

Besides short stature, females with Turner syndrome often have certain physical traits:

• Broad chest.
• Cubitus valgus, where the arms point out slightly at the elbows.
• Dental problems.
• Eye problems, such as a lazy eye or drooping eyelids.
• Scoliosis, when the spine curves sideways.
• Low hairline at the back of the neck.
• Many skin moles.
• Missing knuckle in a particular finger or toe, making the digit shorter.
• Narrow fingernails and toenails.
• Small lower jaw.
• Swelling of the hands and feet.
• Unusually short, wide neck or webbed neck (extra skin folds).

What other medical problems might people with Turner syndrome have?

Cardiovascular problems

People with Turner syndrome (TS) may have heart and blood vessel problems, some of which can be life-threatening. Up to 50% of people with TS have a problem with the structure of their hearts. Cardiovascular problems can include:

• Bicuspid aortic valve, with two valve leaflets instead of three.
• Coarctation of the aorta, when part of the aorta is too narrow.
• Elongation of the aortic arch, a section of the body’s main artery.
• Hypertension (high blood pressure).

Bone problems

These are also common with TS. People with Turner syndrome should exercise and get enough calcium and vitamin D for healthy bones. Bone problems include:

• Increased risk for fractures and osteoporosis (weak bones), particularly in women who haven’t received estrogen treatment.
• Scoliosis, in about 20% of people.

Other medical conditions

People with Turner syndrome may also have:

• Autoimmune disorders: People with TS may develop hypothyroidism (not enough thyroid hormone). They may also develop celiac disease (digestive disorder) and inflammatory bowel disease (digestive tract irritation).
• Hearing and ear problems: An incorrectly formed ear and frequent middle ear infections are common. Sensorineural hearing loss develops in more than 50% of adults.
• Kidney defects: Structural problems in the kidney-urinary system happen in about 30% to 40% of people with TS. Problems with urine flow can lead to kidney infections.
• Metabolic syndrome: People with TS are at high risk for metabolic syndrome, a group of problems that occur together. It includes central obesity (more excess weight around the waist area), insulin resistance (pre-diabetes), high blood pressure, high cholesterol, high triglycerides and Type 2 diabetes.
• Mental health challenges: They may have low self-esteem and anxiety or depression. They may feel this way because of their physical concerns, health problems and infertility.
• Vision problems: Both farsightedness and nearsightedness can occur along with red-green color blindness, but nearsightedness is the most common eye problem.

Do people with Turner syndrome have developmental delays?

People with Turner syndrome typically have normal intelligence. But they may have problems with visual motor and visual spatial skills. They can have difficulty seeing how objects relate to each other in space. For example, driving may be difficult.

People with Turner syndrome may also have trouble with:

• Clumsiness.
• Executive functions, including problems with managing and planning, memory, attention, and cognitive flexibility -- or changing the way they think about something.
• Nonverbal problem solving, like math.
• Understanding social cues, like facial expressions.

How is Turner syndrome (TS) diagnosed?

Usually, parents notice symptoms of Turner syndrome. Sometimes they do so right away and sometimes it happens during early childhood. For example, they may spot:

• Swelling in hands or feet and skin webbing on the neck (may show up soon after birth).
• Short stature or stop in growth.
• Lack of breast development and menstrual periods.

A genetic test called a karyotype analysis can confirm a Turner syndrome diagnosis. This test requires a blood draw. It can determine whether one of the X chromosomes is fully or partially missing.

A complete heart evaluation is also part of diagnosis. That’s because many people with TS have heart problems.

When is Turner syndrome diagnosed?

Healthcare providers may diagnose Turner syndrome at any stage of a child’s development. Sometimes, the condition gets spotted before birth:

• Maternal serum screening is a blood draw from the mother. It checks for signs showing an increased chance of a chromosomal problem with the baby. This screening is more common in women who are pregnant at an older age.
• Amniocentesis and chorionic villous sampling check the amniotic fluid or tissue from the placenta. Healthcare providers perform a karyotype analysis on the fluid or tissue. The results could show that the baby has Turner syndrome.
• Ultrasound during pregnancy may show that the baby has some features of TS. The healthcare provider may see heart problems or fluid around the neck.

Other times, children receive a diagnosis soon after birth or during early childhood because of their symptoms. But some people aren’t diagnosed with Turner syndrome until they reach adulthood. These women may go through puberty and get their periods. But they often have early ovarian failure (early menopause).

Who should be on my child’s care team for Turner syndrome?

Treatment for Turner syndrome depends on each child’s specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child.

Usually, children with Turner syndrome work with their pediatricians. They also receive evaluation and monitoring from pediatric endocrinologists. These hormone specialists can provide recommendations on how to treat hormone deficiencies.

Other pediatric specialists may include:

• Cardiologist.
• Ophthalmologist.
• Otolaryngologist (ENT).
• Psychologist.
• Speech pathologist.
• Surgeon.

Parents can help the care team by keeping growth charts and tracking other symptoms. It’s also a good idea for families to get genetic counseling.

How is Turner syndrome treated?

Besides care for related medical problems, Turner syndrome (TS) treatment often focuses on hormones. Treatments may include:

• Human growth hormone: Injections of human growth hormone can increase height. If treatment starts early enough, these shots can increase the final height of people with TS by several inches.
• Estrogen therapy: Often, people with TS need estrogen, a female hormone. This type of hormone replacement therapy can help girls develop breasts and begin menstruation. It can also help their uterus grow to a typical size. Estrogen replacement improves brain development, heart function, liver function and skeletal health, too.
• Cyclic progestins: These hormones are often added at age 11 or 12 if blood tests note deficiency. Progestins will induce cyclic menstrual periods. Treatment is often started with very low dosages and then gradually increased to simulate normal puberty.

Can Turner syndrome be prevented?

You can’t prevent Turner syndrome. It’s a congenital problem. It happens when a random error results in a missing or incomplete X chromosome. Parents can’t do anything to stop this error from happening.

Will being pregnant at a later age increase the risk of having a baby with Turner syndrome?

No. The chance of having a baby with Turner syndrome doesn’t increase with the age of the mother.

What’s the outlook for people with Turner syndrome?

The prognosis, or outlook, for women with Turner syndrome (TS) is usually good. Life expectancy for Turner syndrome might be slightly shorter, but by testing for and treating the conditions that come with TS, women with TS can expect to live essentially normal lives.

How can I take care of my child with Turner syndrome?

Early diagnosis is key. Pay attention to your child’s growth and milestones. Perhaps you noticed your child doesn’t seem to be growing as they should or you see unusual physical symptoms. Talk to your pediatrician.

Certain treatments, such as hormone therapy, are best started early. It’s also important to stay on top of other medical concerns, such as heart problems. Your healthcare provider can help you set up a team of specialists to manage your child’s care. Your child will likely need regular monitoring and checkups to keep tabs on their her health and any concerns.

Providers also recommend that children with Turner syndrome:

• Get screened for learning problems: This should happen as early as 1 or 2 years of age. Teachers and parents can work together to help the child before learning disabilities get more serious. Children with TS can learn executive function skills. Tutoring and occupational therapy can help them function at their best in school and at home.
• Work with a mental health professional: A therapist can help with social issues and low self-esteem, anxiety and depression. Cognitive-behavioral therapy, a type of talk therapy, can improve a person’s quality of life.

If I have a child with Turner syndrome, am I at higher risk for having another child with TS?

Healthcare providers consider Turner syndrome a sporadic condition, meaning it happens randomly. It’s possible to have a second child with TS, but the risk is the same as it is for any pregnancy. You don’t have an increased risk for a second child with Turner syndrome if you have an older child with the condition.

Can a woman with Turner syndrome get pregnant?

Women with Turner syndrome are usually infertile, meaning they can’t get pregnant. But some women can get pregnant using special fertilization techniques.

What should I ask my healthcare provider?

If your child has Turner syndrome, ask your provider:

• What are the treatment options?
• What are the risks and benefits of growth hormone injections and other hormone treatments?
• When should hormone treatments begin?
• What other medical conditions is my child at risk for?
• What specialists should be on her care team?
• What type of learning or developmental disabilities may occur?

A note from Cleveland Clinic

Turner syndrome is the most common sex chromosomal disorder affecting girls and women. TS happens when the X chromosome is completely or partially missing. It’s a sporadic problem, meaning it happens randomly. The problem often occurs in the parent’s egg or sperm during fertilization. There’s nothing you can do to prevent it. Symptoms of Turner syndrome include short stature and lack of sexual development. Girls often don’t develop breasts or get their periods. A combination of therapies can help women with TS live a good quality of life. Treatment may include hormone therapy to help with growth and development. If you have concerns about your child’s growth or notice other symptoms, talk to your healthcare provider.