What is Turner Syndrome?
The human body typically contains 46 chromosomes, which store your genetic material. The X and Y sex chromosomes determine your gender. Males have one X and one Y chromosome, while females have two X chromosomes.
Turner syndrome is a genetic condition caused by an abnormality on one of your sex chromosomes. It is also called Monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome. The condition is found only in females.
Turner syndrome occurs when part or all of one of your X chromosomes is missing. According to the Turner Syndrome Society of the United States, this condition affects approximately one out of 2,500 live female births (TSS).
Individuals with Turner syndrome can lead healthy and relatively normal lives but they typically require some ongoing and consistent medical supervision to treat and detect complications that might occur.
There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown.
What Are the Symptoms of Turner Syndrome?
Females with Turner syndrome exhibit certain physical characteristics at birth and in childhood, including:
- swollen hands and feet (in infants)
- short stature
- a high palate
- low-set ears
- droopy eyelids
- flat feet
Females with this condition may also have other medical problems associated with Turner syndrome, including:
- heart defects
- problems with sexual development
- hearing loss
- high blood pressure
- dry eyes
- frequent ear infections
- scoliosis (spinal curvature)
These symptoms can appear either early in infancy or (in the case of sexual development and fertility issues) later in adolescence.
Having one or more of these symptoms does not necessarily mean that Turner syndrome exists. It is important for a young female or adolescent suspected of having this syndrome to be seen by a doctor for a thorough examination and accurate diagnosis.
How is Turner Syndrome Diagnosed?
Using prenatal genetic testing, Turner syndrome can sometimes be diagnosed before birth. The condition can be identified through karyotyping, which when performed during prenatal testing, is a laboratory analysis of the mother’s chromosomes that can detect 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 hormone levels
- an echocardiogram to exam the heart
- a pelvic exam
- a pelvic and kidney ultrasound
- a chest MRI
Are there Complications from Turner Syndrome?
Individuals with Turner syndrome are at a higher risk for certain medical problems. Luckily, with appropriate monitoring and regular checkups, complications can be managed.
Kidney abnormalities are common, and some females with Turner syndrome can also have recurrent urinary tract infections and the kidneys may be malformed or in the wrong position in the body. These abnormalities can increase the risk of high blood pressure.
Hypothyroidism—a condition in which there are low levels of thyroid hormone—is another possible complication. It is caused by the inflammation of the thyroid gland, and can be treated with supplemental thyroid hormone.
Individuals with Turner syndrome have a higher-than-average risk of developing celiac disease. Celiac disease causes the body to have an allergic reaction to the protein gluten, found in foods such as wheat and barley.
Heart abnormalities are common in individuals with Turner syndrome, and patients should be monitored for problems with their aorta and high blood pressure.
Obesity may be a complication for some individuals with Turner syndrome. Obesity can increase the risk of developing diabetes.
Outlook: Living with Turner Syndrome
If you are diagnosed with Turner syndrome, you can still lead a healthy and happy life. Though there is no cure, there are treatments available that can ease your symptoms and improve your quality of life.
Growth hormone injections may help children with Turner syndrome to grow taller. Hormone therapy can also aid in the development of secondary sex characteristics, such as breasts and pubic hair. It is usually administered at the start of puberty.
Women who are infertile because of Turner syndrome can use a donor egg to get pregnant. Your obstetrician/gynecologist can refer you to a fertility specialist who can help you choose the best option for you.
Finding a support group for females with the condition, or talking to a counselor, can help you with any emotional difficulties you encounter as a result of your condition.