Cytogenetics and the evolution of medical genetics
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.
A pediatrician should be part of your child's Turner syndrome care team. (Photo Credit: E+/Getty Images)
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.
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.
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:
Other symptoms can include:
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:
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 can be linked to other health conditions, such as:
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:
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:
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.
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:
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.
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.
Turner Syndrome (Monosomy X)
Monosomy X, or Turner syndrome, is a genetic condition affecting people assigned female at birth. Those with it lack part or all of one X chromosome. But this doesn't mean you can't lead a full life with the condition.
Turner syndrome is a genetic condition caused by an abnormality on one of your sex chromosomes. It's also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. Only people assigned female at birth can develop this condition.
The human body typically has 46 (or 23 paired) chromosomes that store genetic material. X and Y chromosomes determine your sex. The male sex has one X and one Y chromosome. The female sex has two X chromosomes.
Turner syndrome occurs when part or all of one of your X chromosomes is missing. This condition affects approximately 1 in 2,000 babies born female.
People with Turner syndrome can lead healthy lives, but they typically require some consistent, ongoing medical supervision to detect and treat complications.
There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown.
Many of these symptoms can be vague and aren't always easy to immediately connect to Turner syndrome. If you are concerned with your child's development at any stage, it's a good idea to talk with their pediatrician.
Infancy
Some signs of Turner syndrome during infancy include:
Childhood and teenage years
As a person grows up, the signs of Turner syndrome may become a bit more obvious. Some of these signs include:
One of the main symptoms of Turner syndrome is the underdevelopment of the ovaries. Because the ovaries are responsible for producing sex hormones, this underdevelopment can slow or stop the typical signs of puberty, such as breast development and menstruation, in people assigned female at birth.
Hormone therapy, such as estrogen, can help with breast development and increase the size of the uterus. It can also help with height development.
Adulthood
If Turner syndrome is not treated earlier, or if a person is living with a severe form of it, some of the symptoms in adulthood can include:
Having one or more of these symptoms doesn't necessarily mean that you or your child has Turner syndrome. However, it's always a good idea to speak with a doctor if you feel as though something is amiss when it comes to your health or the development of your child.
Typically, Turner syndrome is not inherited. It's a random event that happens during the early stages of development in the womb.
There is no evidence that a mother's age increases the risk that a baby will be born with Turner syndrome.
People with Turner syndrome are at a higher risk of certain medical problems. With appropriate monitoring and regular checkups, however, most of the conditions can be managed.
Prenatal genetic testing done before birth can help a doctor diagnose Turner syndrome. The condition is identified through a laboratory procedure called karyotyping. When performed during prenatal testing, karyotyping can detect if the mother's chromosomes have any genetic abnormalities.
Your doctor may also order tests to look for the physical symptoms of Turner syndrome. These tests may include:
If you've been diagnosed with Turner syndrome, you can still lead a full, happy life. While there is no cure, there are treatments that can help manage symptoms and improve your quality of life.
Growth hormone therapy may help children with Turner syndrome grow taller. These daily injections usually start around ages 5 or 6 and end when a person is around 15 or 16.
Estrogen and progesterone replacement therapy is another possible treatment. These hormone replacements can aid in the development of secondary sex characteristics like breasts and pubic hair and can help keep periods more regular. These hormone replacements are usually given at the start of puberty and may need to be continued for most of a person's adult life.
While some people with Turner syndrome may be able to conceive a child, many individuals with this rare condition may have more difficulty. Assisted conception techniques like in vitro fertilization (IVF) and egg donation are two possible solutions.
Both family support and the support of a therapist or group can be very beneficial for people living with Turner syndrome — especially if the person is living with learning differences or emotional stressors from their symptoms.
Turner syndrome is a rare condition caused by an abnormality on one of the sex chromosomes. This syndrome only affects people assigned female at birth.
While Turner syndrome can have some significant symptoms, including delayed puberty and smaller stature, early treatment can help people living with this condition lead a healthy, happy life. Recurring check-ins with one's healthcare team can also help keep symptoms in check.
Treatments that help manage symptoms include growth therapy, sex hormone therapy, and emotional support.
Turner Syndrome Diagnosis And Treatment
Most cases of Turner syndrome are diagnosed during childhood or adolescence, although it is possible for indicative signs to be identified in a prenatal ultrasound and confirmed with an amniocentesis diagnostic test.
Karyotyping is used to confirm the diagnosis in children and adults, as it analyses the chromosomes and detects the missing X chromosome characteristic of Turner syndrome.
The treatment for the condition typically involves hormonal replacement therapy, in addition to support from a multidisciplinary team to prevent complications associated with the condition.
DiagnosisTurner syndrome may be suspected in a fetus based on evidence of lymphedema or abnormalities of the heart or kidneys identified in a routine prenatal ultrasound. In this case, amniocentesis can be used to take a sample fluid from the womb, which is tested for chromosomal evidence of Turner syndrome.
There are a number of physical signs that may prompt diagnosis of Turner syndrome. These include;
Diagnosis can be confirmed with a karyotype blood test. This involves the analysis of the chromosomal composition of the female and evidence of the missing or partially missing X chromosome.
TreatmentThere is no cure for Turner syndrome and treatment typically involves a multidisciplinary team to manage the various symptoms in the most appropriate manner.
Girls and teenagers who are affected often receive care from a pediatric endocrinologist who specializes in childhood conditions with abnormal hormones and metabolism. Many children also have learning difficulties and have trouble socializing with other people, which can affect their overall wellbeing. Psychological support and additional learning aids can be helpful in some cases.
Injections of growth hormone can help reduce short stature in some girls. This usually begins in early childhood and can help to lessen the difference in expected height from approximately 20 cm to 15 cm.
At puberty, or around 12 years, estrogen replacement therapy may be initiated to allow for the development of sexual characteristics such as breast tissue. This progresses to estrogen and progesterone therapy several years later to induce a monthly period, maintain the health of the womb, and prevent osteoporosis.
The vast majority of women with Turner syndrome are infertile, although some are able to conceive a child naturally. It may be possible for a woman to become pregnant with a donor embryo and in-vitro fertilization (IVF).
Management of ComplicationsThere are several other health conditions that are associated with Turner syndrome that may require treatment.
For example, heart murmur is common due to the narrowing of the aorta and hypertension in individuals with Turner syndrome, and some affected babies are born with this. A cardiologist can help to assess this and recommend the appropriate treatment.
There is also an increased risk of middle ear infections and recurrent infections can lead to hearing loss in severe cases. Girls with Turner syndrome that get frequent infections should be referred to a pediatrician to make the appropriate interventions.
Women with Turner syndrome are also more like to be affected by:
It is important that regular health check-ups are carried out on an ongoing basis to monitor for signs of these conditions and provide preventative care or early interventions when necessary.
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