How common is Turner Syndrome?

Turner syndrome affects about 1 in 2,000-2,500 females. It is the most common sex chromosome condition affecting females. However, 99% of pregnancies in which the fetus has Turner syndrome end in miscarriage.

What Causes Turner Syndrome?

We don’t know what causes Turner syndrome. It happens when the cells divide very early in pregnancy. The X chromosomes do not pair together normally.

Turner syndrome is generally not inherited from a parent, but rare cases have occurred. It also is not due to the parent’s age, ethnicity or lifestyle. It cannot be prevented because it happens randomly.

Turner Syndrome Symptoms

Each person with Turner syndrome may have different symptoms. Some people may only have a few symptoms while others may have several. Everyone is affected differently.

The most common sign is short stature. Females with this condition who aren’t treated reach an average adult height of 4 feet 8 inches.

Other symptoms may include:

• Physical traits

• Broad, shield-like chest
• Droopy eyelids or down-turned eyes
• Low-set ears
• Wide, short or webbed (extra skin) neck
• Swelling of hands and feet
• Upturned fingernails and toenails

• Reproductive system issues

• Late puberty and/or menstruation (getting a period)
• Non-functioning ovaries or infertility

• Hearing issues

• Frequent middle ear infections
• Hearing loss

• Bone conditions

• Osteoporosis, a condition where the bones become weak and brittle
• Scoliosis, a sideways curvature of the spine

• Heart issues

• High blood pressure
• Valve and aorta (main artery leading away from the heart) problems

• Kidney concerns

• Structural conditions, such as a horseshoe kidney, where the kidneys are fused together at the lower end
• Urinary tract infections

• Metabolic syndromes

• Type 2 diabetes
• Heart disease

• Mental health challenges

• Anxiety and depression

• Educational and behavioral difficulties

• Attention deficit hyperactivity disorder (ADHD)
• Slower brain processing speed
• Nonverbal learning disabilities

Proper diagnosis and treatment can help manage these symptoms.

How is Turner Syndrome Diagnosed?

Turner syndrome is often identified during pregnancy or in infancy, but is often not diagnosed until later in childhood. Tests include:

• Blood test for the pregnant parent
• Ultrasound
• Amniocentesis (sampling of amniotic fluid) or chorionic villi sampling (taking tissue from the placenta) to check the number and appearance of a complete set of chromosomes

After birth, a blood test called a karyotype can check for Turner syndrome. The karyotype will show a picture of a complete set of chromosomes. This may be requested for:

• Babies who are showing signs of Turner syndrome, such as heart defects, a webbed neck, low-set ears or a broad chest
• Children who are not growing normally
• Teenagers who are not going through puberty or getting a period

Although not as common, adults may be diagnosed with Turner syndrome. They may have few or minor symptoms, or their doctor may not have considered all symptoms together to diagnose Turner syndrome. Some symptoms may show up in adulthood, such as infertility, diabetes and hearing loss, which would trigger testing. Early diagnosis of Turner syndrome is important because treatment can help manage symptoms and reduce risks of more serious conditions.

Turner Syndrome Treatments

Treatment for Turner syndrome depends on how old the person is when diagnosed. Pediatricians and pediatric endocrinologists, who specialize in hormone issues in children, can diagnose and treat Turner syndrome.

Effective treatments include:

• Growth hormone to stimulate growth in height
• Estrogen to start puberty and menstruation

Other treatment is based on symptoms. If a female is showing signs of ADHD, getting support through psychologists, psychiatrists and other professionals can help. If they have hearing issues or many ear infections, an ear, nose and throat (ENT) specialist can recommend treatment.

Females with heart, kidney, metabolic or other serious health issues will need ongoing monitoring and treatment from specialists. The care team will evaluate each patient and recommend a treatment plan.

Turner Syndrome Outlook

Many females with Turner syndrome live full lives. With early diagnosis and treatment, they can manage symptoms and support their health. However, if serious medical conditions such as heart and kidney problems are not treated, their life expectancy can be up to 13 years shorter than the general population.