Turner Syndrome

Turner syndrome (TS) is when one of the X chromosomes is partially or completely missing. It’s a congenital condition (meaning, a condition that you’re born with) that affects females only.

TS affects everyone differently. But short height and low-functioning ovaries are the two most common features of the condition.

The disease may affect 1 in 2,000 to 2,500 infant girls.

Symptoms of Turner syndrome

Some girls have noticeable Turner syndrome symptoms early in life, while others might not show signs until later. Symptoms can be mild and develop gradually during childhood. Or they can be significant and noticeable shortly after birth. Still, others don’t receive a diagnosis until adulthood.

Your healthcare provider may suspect TS before birth based on prenatal genetic testing or pregnancy ultrasound. Signs include the fetus having:

• Heart problems
• Kidney/urinary problems
• Fluid collecting around the back of the neck

Symptoms of TS that appear at birth or shortly after are:

• Ear differences, like low-set ears, elongated ears, cup-shaped ears and thick ear lobes
• Low hairline at the back of the neck
• A short, wide neck or webbed neck
• Small and receding lower jaw
• Broad chest and nipples that are spaced far apart
• Arms that point out slightly at the elbows
• A missing knuckle that makes a finger or toe shorter than the rest
• Flat feet
• Narrow fingernails and toenails

Some of the signs and symptoms of TS in children, teens and adults are:

• Growing more slowly than peers (usually noticeable by age 5)
• Lacking growth spurts as a child or teen
• Having delayed or absent puberty (not developing breasts or getting a period)
• Having low levels of sex hormones (like estrogen)
• Having smaller than average ovaries that only function for a few years or not at all (primary ovarian insufficiency)
• Not being able to get pregnant (infertility)

Almost everyone with Turner syndrome experiences short height and ovaries that don’t work as they should. As TS affects everyone differently, you should talk to your child’s healthcare provider about what symptoms and features to expect or look out for.

Turner syndrome causes

Turner syndrome happens when one X chromosome is partially or completely missing in your female child.

Humans typically have 23 pairs of chromosomes, for a total of 46. These include 22 pairs of numbered chromosomes (called autosomes) and one pair of sex chromosomes. You inherit one chromosome of each pair from each biological parent. The 23rd pair determines sex at birth: Typically, females have two X chromosomes (XX), while males have one X and one Y chromosome (XY).

Researchers don’t yet understand why this happens. It could be because of a problem with the egg or sperm at conception or due to a change in the X chromosome during fetal development.

Types of Turner syndrome

There are two main types. The type depends on whether the X chromosome is completely or partially missing.

• Monosomy X. This type means your female baby is completely missing one X chromosome. It happens due to an error with either the sperm or the egg from the biological parent. If that sperm or egg leads to conception, the fetus will only have one X chromosome. This is typically the more severe and recognizable form of TS.
• Mosaic Turner syndrome. This type means the X chromosome is partially missing. It happens randomly during fetal development. This is typically the milder form of TS, which may go undiagnosed.

Complications of Turner syndrome

People with Turner syndrome are at higher risk for certain health conditions. These can include:

• Cardiovascular disease. Up to 50% of people with TS are born with a congenital heart condition that affects the structure of their hearts. The condition usually involves the aorta, which is the large blood vessel that delivers oxygen-rich blood to your body.
• Skeletal issues. Bone conditions are common with TS and may include increased risk for osteoporosis, bone fractures and scoliosis.
• Autoimmune conditions. TS increases your risk of celiac disease, Hashimoto’s disease and inflammatory bowel disease (IBD).
• Hearing issues. Hearing loss can develop in people with TS. This can be due to frequent middle ear infections or loss of nerve function.
• Vision and eye problems. The most common vision issues include refractive errors (nearsightedness and farsightedness), crossed eyes and lazy eye.

People with Turner syndrome may also have:

• Kidney conditions. TS increases your risk for kidney problems, which can lead to frequent urinary tract infections (UTIs).
• Metabolic syndrome. People with TS are at an increased risk for metabolic syndromes, like cardiovascular diseases, Type 2 diabetes and stroke.
• Learning disabilities. People with Turner syndrome usually have typical intelligence, but they may have some learning challenges. These often involve issues with memory and understanding how things fit together in space. For example, driving might be harder for them.
• Mental health challenges. Living with the disease may lead to issues with self-esteem, which can cause depression.

How doctors diagnose this condition

Healthcare providers can diagnose Turner syndrome before or after birth.

Before birth, they use the following tests to diagnose the condition:

• Noninvasive prenatal testing (NIPT). These are blood tests during pregnancy that detect congenital disorders in the fetus.
• Ultrasound during pregnancy. This may show that the fetus has some features of TS, like heart problems or fluid around the neck.
• Amniocentesis and chorionic villus sampling. Providers perform a genetic test with karyotype analysis on amniotic fluid or placental tissue. It can confirm if the fetus has Turner syndrome.

After birth, a karyotyping test can confirm Turner syndrome. This is a blood test. A pathologist will check your blood for a missing X chromosome.

How is Turner syndrome treated?

There’s no cure for Turner syndrome. But certain medications and therapies can help manage symptoms.

Besides caring for related medical problems, treatment often focuses on hormones. Treatments may include:

• Human growth hormone therapy. Human growth hormone shots help kids with TS grow taller. If they start early enough, these shots add several inches to how tall they end up being.
• Estrogen therapy. Most girls with TS need estrogen therapy to go through puberty. It helps with things like growing breasts and getting a period. Estrogen also helps make bones stronger and supports heart health. This treatment usually continues until the age of menopause.
• Progestin therapy. Providers may prescribe progestin in a specific cycle later, years after estrogen therapy begins. This helps people with TS have period bleeding more like a natural menstrual cycle.

When should my child see their healthcare provider?

Early diagnosis and treatment are key. Pay attention to your child’s growth and milestones. Perhaps you noticed your child doesn’t seem to be growing as you expect, or you see unusual physical symptoms. Talk to their pediatrician about your concerns.

Certain treatments, like hormone therapy, are most effective if you start them early. Your child will likely need frequent check-ups to prevent common health complications with TS.

Providers also recommend that children with Turner syndrome:

• Get screened for learning disabilities. This should happen as early as 1 or 2 years old. Working with your child’s teachers can help address issues before learning disabilities get more serious.
• Work with a mental health professional. A child psychologist can help with social issues and low self-esteem, anxiety and depression. Cognitive behavioral therapy (CBT) can help your child navigate and cope with these challenges.

What can I expect if my child has Turner syndrome?

Turner syndrome affects everyone differently. It’s impossible to predict how it’ll affect your child. The best way you can prepare is to talk to healthcare providers who specialize in Turner syndrome. They can help you navigate the lifelong treatment your child will need.

What is the life expectancy with Turner syndrome?

The life expectancy for people with Turner syndrome might be slightly shorter. But with close monitoring of the health issues that may come with TS, people can usually expect to live a typical lifespan.