What Is Turner Syndrome?
Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning disabilities, and infertility. Sometimes, symptoms are so mild that the disorder isn’t diagnosed until teen or young adult years.
Turner syndrome can cause symptoms throughout your life. Treatments and findings from ongoing research can help you manage its symptoms. About 70,000 women and people assigned female at birth in the U.S. live with Turner syndrome.
Turner Syndrome Causes
Turner syndrome happens when a female is missing certain genes normally on the X chromosome. (Females have two X chromosomes, while males have an X and a Y chromosome). Some people with Turner syndrome are missing a whole copy of the X chromosome. For others, just a part of the X chromosome containing a specific set of genes is missing. Almost 99% of babies with a missing X chromosome are miscarried, but about 1% of them are born with Turner syndrome.
Types of Turner Syndrome
Turner syndrome has different types depending on the way your genes are affected.
Mosaic Turner syndrome. When cell division during the early stages of fetal growth doesn’t happen correctly, some cells in your body get two complete copies of the X chromosome. Other cells have only one copy.
Monosomy X. In this type, a problem with the mom’s egg or dad’s sperm causes an absence of the X chromosome in every cell of the body.
Inherited Turner syndrome. A baby may inherit Turner syndrome from a parent who has the condition. This type is very rare and often occurs due to an absent part of the X chromosome.
Other Turner syndrome abnormalities include:
X chromosome abnormalities. These can happen when your cells have one complete copy and one abnormal or missing copy of the X chromosome.
Y chromosome material. In a few cases, some cells get one copy of the X chromosome, while other cells get one copy of the X chromosome and some Y chromosome material. Biologically, you develop as a female. The Y chromosome material increases your risk of a type of cancer called gonadoblastoma.
Turner Syndrome Symptoms
Signs of Turner syndrome can start before birth, and they give parents some idea their baby might be born with this condition. An ultrasound of a baby with Turner syndrome may show heart and kidney problems or a buildup of fluid.
A DNA test using a blood sample from the mother can also screen for Turner syndrome before birth.
At birth or during infancy, your child might have several physical features that point to the condition. Those include swollen hands and feet or smaller than average height at birth.
Others include:
- A wide or weblike neck with extra folds of skin
- Receding or small lower jaw and a high, narrow roof of the mouth (palate)
- Low-set ears and a low hairline
- Broad chest with widely spaced nipples
- Arms that turn outward at the elbows
- Short fingers and toes and narrow fingernails and toenails
- Delayed growth
- Heart defects
- Down-turning eyelids
- Short roots of teeth
- Kidney abnormalities
- Greater than usual number of moles on the skin
- Low sex hormone levels
- Small ovaries that may not work at all or only work for a few years
- Flat feet
Other symptoms can include:
- No growth spurts at expected times in childhood
- A shorter height than expected based on parents’ height
- Learning disabilities
- Inability to go through puberty normally (because of ovarian failure)
- Loss of menstrual cycles
- Infertility
Turner syndrome in a fetus
“Turner syndrome may be diagnosed prenatally, though not always conclusively,” according to Allison Lange, MD, Reproductive Endocrinologist at RMA. A doctor may suspect Turner syndrome in a fetus after doing a blood test called noninvasive prenatal testing (NIPT) that checks for genetic abnormalities.
Also, a fetal ultrasound may detect birth defects that can be associated with the syndrome. Those may include cystic hygroma (fluid-filled bump on the baby’s neck), heart defects, kidney anomalies, or a short thigh bone (femur), which may suggest Turner syndrome.
A doctor can confirm the diagnosis with invasive testing, such as chorionic villous sampling (testing a sample of placenta tissue to check for genetic abnormalities) or amniocentesis (taking out a sample of the amniotic fluid protecting the fetus in your uterus to test for chromosomal abnormalities), Lange said.
Turner syndrome in babies
“Turner syndrome is more commonly suspected after delivery based on clinical features,” said Lange. Babies with Turner syndrome may have:
- Lymphedema (swelling in feet or legs)
- A short, webbed neck
- A broad chest with widely spaced nipples
- A narrow and high palate
- A short fourth metacarpal (bone in the hands)
Tiffany Kimbrough, MD, pediatrician and medical director of complex care at Children’s Hospital of Richmond at VCU, said babies with Turner syndrome are at increased risk of certain malformations of their heart and kidneys. Heart disease is a serious part of Turner syndrome. Up to 50% of those with Turner syndrome have some form of cardiac malformation.
Hearing loss (sensorineural), which is either present at birth or worsens over time, is also common in babies with Turner syndrome.
Other conditions linked to Turner syndrome
If you have Turner syndrome, you may be more likely to have health conditions such as heart disease and bone problems. But that’s not always the case.
Heart conditions. With Turner syndrome, you may have potentially life-threatening heart and blood vessel problems. At least 50% of people with Turner Syndrome have a heart condition present at birth. You could also have other heart problems, such as high blood pressure and bicuspid aortic valve (BAV), where your aortic valve has two flaps or cusps instead of three.
Bone problems. Turner syndrome may increase your risk of bone diseases such as osteoporosis, scoliosis, and bone fractures.
Autoimmune conditions. With Turner syndrome, you have a higher risk of autoimmune conditions, in which your immune system mistakenly attacks your cells. These include inflammatory bowel disease (IBD), celiac disease, and Hashimoto’s thyroid disease.
Hearing and vision problems. When you have Turner syndrome, you’re likely to have problems with your ears and eyes. You might be more likely to have frequent middle ear infections, hearing loss, lazy eyes, crossed eyes, and drooping eyelids.
Kidney conditions. About 30%-40% of those with Turner syndrome have kidney and urinary system problems. You might have trouble peeing, or you might lack a kidney.
Metabolic syndrome. You may be at a higher risk for heart disease, obesity, type 2 diabetes, stroke, and other metabolic disorders when you have Turner syndrome.
Learning disabilities. Although you’re intelligent, you might have learning disabilities, such as problems with visual-motor and visual-spatial skills. That can make everyday activities, such as driving, challenging.
Lymphedema. You might have swelling and puffiness in your hands, legs, and feet.
Mental health problems. Turner syndrome can be difficult to manage. You may face mental health distress such as anxiety, depression, stress, and self-esteem problems.
Turner Syndrome Complications
Turner syndrome can be linked to other health conditions, such as:
- Heart problems because of its physical structure
- Increased chance of diabetes and high blood pressure
- Hearing loss
- Kidney problems that can raise the chance of high blood pressure and urinary tract infections
- Immune disorders such as diabetes, inflammatory bowel disease, and hypothyroidism (when your thyroid gland can’t make enough hormone to keep your body running properly)
- Bleeding in the digestive tract
- Dental and vision problems
- Scoliosis (which is a curving of the spine) and osteoporosis (which causes brittle bones)
- Learning disabilities
- High blood pressure
- Mental health issues
- Obesity
Turner Syndrome Diagnosis
If an ultrasound shows something abnormal while you’re pregnant, your doctor may want to examine your baby’s chromosomes with a test called karyotype. This test compares chromosomes by lining them up. To get samples from you, your doctor may recommend:
- Amniocentesis. This is when a doctor takes out the protective fluid (that surrounds your unborn baby) from your uterus for testing.
- Blood sample. This can help find out whether the baby is missing all or part of an X chromosome.
- Chorionic villus sampling (CVS). Your doctor removes tissue samples from a portion of the placenta for testing. This test is typically done around 10-12 weeks of pregnancy.
- Cheek scraping or skin sample. Your doctor may be able to test you using cells scraped from the inside of your cheek (buccal smear) or a sample of skin cells.
If a diagnosis isn’t made before or at birth, other lab tests that check hormones, thyroid function, and blood sugar can help diagnose it.
Because of the problems linked to Turner syndrome, your doctor may suggest tests for the kidneys, heart, and hearing.
Building your child’s Turner syndrome care team
“When possible, patients with Turner syndrome should be cared for in a dedicated multidisciplinary clinic,” Lange said.
Your child’s care team should include various specialists, each with a specific role:
- A pediatrician will manage your child's overall health.
- A genetics provider is important during the early phase of diagnosis.
- A pediatric endocrinologist (a doctor who specializes in treating hormonal problems in children) will manage growth and hormonal concerns.
- A cardiologist (heart doctor) will monitor those with cardiac defects.
- A nephrologist (a doctor specializing in kidney diseases) and a urologist (a doctor treating urinary tract and reproductive health problems) will manage those with renal and urinary system anomalies.
- An orthopedic specialist (a doctor who treats musculoskeletal conditions) manages those with skeletal abnormalities.
- A reproductive endocrinologist may be needed as your child ages, as they may seek hormone management and family-building treatment options.
Those with Turner syndrome are at risk of vision and hearing abnormalities and will often be followed by specialists within these fields, Lange said. Neuropsychology and behavioral health services are essential to provide support and perform developmental and behavioral screenings, she added.
“Each child is an individual, and it’s important to cultivate the team that you trust to care for your child and your family along your health care journey,” Kimbrough said.
Turner Syndrome Treatments
Medical care often calls for a team of specialists built around the specific needs of each person, as cases vary so widely.
There’s no cure, but most people with Turner syndrome will take the same main therapies during childhood and the teen years. These are:
- Growth hormone: Given as an injection a few times a week, it aims to increase height as much as possible.
- Estrogen therapy: Started around the time of puberty and continued until the average age of menopause, this hormone treatment can help a woman grow and reach adult sexual development.
- Cyclic progestin: It’s a hormone therapy that causes menstrual periods to happen regularly. A doctor may recommend it when your child reaches 11 or 12.
Living With Turner Syndrome
If you think your child has Turner syndrome, see their doctor as soon as possible for early confirmation. Early diagnosis allows for timely interventions and management of potential complications.
You or your child can also:
Connect with other people who live with Turner syndrome. Connecting with others with Turner syndrome can be helpful. Online forums or local groups, such as The Turner Syndrome Society of the United States, can offer a sense of belonging and shared experience.
Be educated about the condition. Learn about Turner syndrome so that you and your family can make informed health care decisions and advocate for yourselves.
Remain proactive with health care visits. Stay on top of appointments so that your child can get the most out of treatments. Regular health care visits are also crucial for monitoring any changes or improvements in their health.
Get professional mental health help. You or your child may benefit from talk therapy to address mental health problems linked to Turner syndrome, like low self-esteem, anxiety, and depression.
Caring for a child with Turner syndrome
Caring for a child with Turner syndrome requires attention and compassion, Lange said. Get medical help when you notice any unusual features or symptoms in your child. Regular visits to your child’s pediatrician and endocrinologist help make sure they grow and develop properly.
“Children with Turner syndrome also need appropriate emotional support,” Lange added. Working with a child therapist can help. Lange recommends encouraging your child’s independence in daily activities while offering support when needed.
Because many children with Turner syndrome experience learning and physical challenges, they may also benefit from physical, occupational, and educational support as well, Lange said.
Take your child for learning disability screenings as early as age 1 or 2. Talk to their teachers about how to best help with their learning needs and meet any accommodations.
Turner syndrome and pregnancy
If you have Turner syndrome, you may have trouble getting pregnant, as your ovaries don’t make viable oocytes (cells necessary for reproduction). If you’re able to become pregnant, high blood pressure and gestational diabetes might be issues. You also might have issues such as preeclampsia.
Before pregnancy, see a maternal-fetal medicine specialist and cardiologist, Lange said. Your doctor may do a prepregnancy baseline cardiac imaging, which may help predict the risks of pregnancy-related complications.
“Throughout the pregnancy, expect close heart function, fetal growth, and maternal blood pressure monitoring. A delivery plan should be created in advance and involve a multidisciplinary team,” Lange said.
Takeaways
- Turner syndrome is a rare genetic disorder that happens in women and people assigned female at birth.
- It can cause you to have unique physical features, as well as health issues such as heart defects, kidney problems, hearing loss, vision problems, and health problems involving different organs.
- Getting diagnosed and treated as early as possible can help manage the condition effectively. You can feel more supported by joining a support group and learning as much as possible about your condition.
Turner Syndrome FAQs
Is Turner syndrome XO or XXY?
Turner syndrome is XO, meaning one of your X chromosomes is partly or completely missing. It happens in people assigned female at birth. XXY happens in people assigned male at birth, with a condition called Klinefelter syndrome.
Is Turner syndrome tied to autism?
People with Turner syndrome are four times more likely to have autism, some studies show.
Does everyone with Turner syndrome have a period?
No, most people with Turner syndrome don’t have a period.
Why can’t Turner syndrome be cured?
Turner syndrome can’t be cured because it involves a problem with your genetic makeup.
Does Turner syndrome cause pain?
Turner syndrome on its own is unlikely to cause pain. But it might increase your risk for health problems that cause pain, like bone fractures and kidney diseases.