What You Need to Know About Turner Syndrome
Having Turner Syndrome can be devastating. It’s a serious medical condition that causes your muscles to go awry, leading to a variety of physical issues. Luckily, there are some treatment options available that can help you get your life back on track.
Symptoms
Among the symptoms of Turner syndrome are infertility, low self-esteem, problems with executive functions, and learning disabilities. In addition, women with this condition have an increased risk of developing osteoporosis in their late adulthood. Often, these patients are also at an increased risk of heart disease. They also have an increased risk of digestive bleeding and urinary tract infections.
Aside from infertility, a large number of people with Turner syndrome are unable to conceive. In fact, one in every ten miscarriages in the first trimester is thought to be due to Turner syndrome. Other symptoms of this condition include low hairline at the back of the neck, webbed neck, and fractures.
Because of the lack of estrogen, ‘thinning’ of the bones occurs. This can cause scoliosis and osteoporosis. Estrogen can be taken orally to help prevent these problems. It may also be applied as a patch.
A woman with Turner syndrome has a high risk of developing high blood pressure. This can lead to cardiovascular problems and even a heart attack. It also increases the risk of developing diabetes.
Girls with Turner syndrome are at an increased risk of having urinary tract infections. They may also have kidney and bladder problems. They also have an increased risk of having heart valve abnormalities. These abnormalities can lead to bicuspid aortic valves, which narrow the aorta.
In some cases, Turner syndrome may be associated with insulin resistance. This can increase the risk of a life-threatening rupture of the aorta.
Another common symptom of Turner syndrome is hearing loss. It can be a result of a gradual loss of nerve function, or it can be caused by frequent ear infections.
Some people with Turner syndrome experience depression and attention deficit hyperactivity disorder (ADHD). These problems can have a negative impact on a person’s ability to function in social situations. In addition, these individuals have difficulty with math and spatial skills.
Most females with Turner syndrome do not go through puberty. Their growth is slow and they often have short stature. Their ears are low-set and they usually have prominent earlobes. In addition, they have swollen hands and feet.
Diagnosis
Despite being rare, Turner Syndrome (TS) can be a very serious condition. It can cause a number of different problems, including heart defects, short stature, osteoporosis, and learning disabilities. Because of its risk for complications, it is important to make an early diagnosis.
There are several types of lab tests that can help diagnose Turner Syndrome. These include chromosome analysis, chorionic villus sampling, and a blood sample. The test can be done either during pregnancy or at birth.
In the fetal stage, the most common form of Turner Syndrome is a partial deletion of the X chromosome. This can happen in the mother’s egg or in the father’s sperm. The chromosome contains all of the genes of a person. Having a missing X chromosome can result in short stature and other physical symptoms.
If the baby has Turner Syndrome, a cardiologist will perform an echocardiogram, which is a test that can show whether the heart is functioning properly. Children with the condition should have an echocardiogram at least once a year, if not more frequently.
In addition to the heart, Turner Syndrome may also cause problems with the kidneys. This may lead to frequent urinary tract infections and high blood pressure. Treatment for the condition includes a number of supplements and drugs. One of these is oxandrolone, which is used to increase protein production. The drug also helps the body build bones and improves bone mineralization.
Other possible complications of Turner Syndrome include developmental delays, scoliosis, strabismus, and aortic root dilatation. Those with the condition should also be evaluated for hyperopia, a vision disorder. The results of the tests will help to identify and treat any problems that may occur.
In addition to the above testing, parents of children with Turner Syndrome should track any signs and symptoms. These can be helpful ways to share information with the entire care team. The patient should also have regular visits with a pediatric endocrinologist. They can make recommendations for hormone deficiencies and help to ensure that a child’s growth and development are normal.
The best way to manage the condition is to start treatment at an early age. Human growth hormone can be given to help a child reach adult height. Other treatments can be used to increase bone mineralization, improve learning disabilities, and promote breast development.
Treatment
Symptoms of Turner syndrome include delayed puberty, delayed or absent menstruation, short stature, and abnormal kidneys. In addition, patients may have problems with memory, executive function, and vision.
Affected women are at risk for cardiac conditions. In addition, females with Turner syndrome have a higher risk of hip dysplasia. In addition, they are more likely to have premature ovarian failure. In addition, the condition can increase the risk of high blood pressure.
The most common treatment for Turner syndrome involves estrogen replacement therapy, which is used to help develop breasts and bones. Generally, the dosage is increased over a few years. In addition, growth hormone therapy is also used. The therapy is usually given as daily injections of recombinant human growth hormone. Typically, the therapy is started when the child is aged 12-24 months. The therapy is then continued until the child reaches a normal height.
Other treatments for Turner syndrome include surgery for cardiac anomalies. In addition, patients with cardiac problems should have heart exams and echocardiograms every 3 to 5 years.
The best treatment for Turner syndrome is to detect and treat the condition early. This can help the patient reach their full potential. It can also help them live longer and healthier life.
If a girl with Turner syndrome has completed her puberty, she is at risk for premature ovarian failure. This is one of the reasons why it is important to start estrogen treatment as soon as possible.
Children with Turner syndrome should be evaluated by a pediatric endocrinologist. This doctor can recommend hormone deficiencies and give recommendations for treatment. In addition, the child can be treated with psychological support and speech therapy. Parents can help by keeping a growth chart, tracking other symptoms, and helping the team.
It is important for families to learn about their options and take advantage of the resources available. Genetic counseling is also an option. The diagnosis of Turner syndrome can be a life-altering one. Fortunately, many people with this disorder are able to live normal lives. During pregnancy, ultrasound can reveal features of the condition.
Complications
Those with Turner syndrome may be affected by many different types of complications. Some symptoms may include hypertension, cognitive dysfunction, infertility, and low self-esteem. They may also experience physical problems including scoliosis, coarctation of the aorta, and fractures.
Approximately 30 percent of those with Turner syndrome are affected by heart defects. These heart defects are life-threatening. These conditions usually require surgery to correct them. Some of the surgeries include valve repairs, aortic root replacement, and hypoplastic left heart syndrome.
Girls with Turner syndrome are also at higher risk of developing ear infections. These infections can be due to a weakened nerve or deterioration of the inner ear. Fortunately, the majority of girls with Turner syndrome are born with normal intelligence and do not develop learning disabilities or other behavioral problems.
It is important to note that although Turner syndrome is not curable, effective treatments aim to minimize the effects of the condition. These treatments include calcium supplementation, vitamin D, and ongoing sex hormone therapy. Often, growth hormone is used in treatment. In addition, patients with Turner syndrome are given cyclic progestins to facilitate normal menstrual cycles.
A blood test known as a karyotype can confirm the presence of extra chromosomal material. The test can be done at birth or after the child has been born. The results may show that the baby has one or more copies of the X chromosome in the body. Alternatively, the healthcare provider can perform a chorionic villus sampling, which removes tissue from the placenta.
Those who have heart defects need to have an echocardiogram, MRI scan, or electrocardiogram every five years. These tests can be performed by a cardiologist or other medical specialist.
Other tests can be performed to rule out other heart conditions. An ultrasound can be performed during pregnancy to look for a build-up of fluid in the aorta or heart. An MRI is not always necessary but should be performed before the child is conceived.
Those with Turner syndrome may also have eye, kidney, and hearing problems. They may have poor vision or visual-spatial skills and have difficulty with executive functions.
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Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/
