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
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.
People assigned female at birth with Turner syndrome can exhibit certain characteristics during infancy and in childhood, as well as into adulthood.
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:
- small size
- swelling of hands and feet
- extra folds in the neck
- heart abnormalities
- difficulty with feeding
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:
- smaller in stature than most of their peers
- below average in both height and weight
- chronic ear infections
- hearing issues
- learning difficulties
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:
- irregularities in menstrual cycle
- hearing issues
- heart issues
- small stature
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.
- Kidney abnormalities. Kidney abnormalities are common in people with Turner syndrome. Some people with Turner syndrome also have recurrent urinary tract infections (UTIs). This is because the kidneys may be irregularly formed or in the wrong position in the body.
- High blood pressure. High blood pressure can occur due to these kidney abnormalities.
- Hypothyroidism. Hypothyroidism, a condition where you have low levels of thyroid hormone, is another possible complication. It can be caused by the inflammation of the thyroid gland, which can occur in some people with Turner syndrome.
- Celiac disease. Celiac disease can often occur in people with Turner syndrome, as these individuals have a higher-than-average risk of developing it. Celiac disease causes the body to have an allergic reaction to the protein gluten, which is found in foods like wheat and barley.
- Heart abnormalities. Heart abnormalities are common in people with Turner syndrome. People with the condition should be monitored for problems with their aorta (the main artery connecting the heart and the rest of the body) and high blood pressure.
- Lymphedema. Lymphedema, which is swelling due to fluid retention, can often occur in the hands and feet of people with Turner syndrome.
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:
- blood tests to check sex hormone levels
- echocardiogram to examine for heart defects
- pelvic exam
- pelvic and kidney ultrasound
- chest MRI scan
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.
