Discover Turner Syndrome Today! All You Need to Know about the Condition
Turner syndrome is a condition where girls have only half their normal chromosome count. In addition to having fewer chromosomes than average, they may also experience short stature, infertility, heart defects, delayed puberty, and learning disabilities. TS is a genetic condition caused by missing or abnormal X chromosomes.
TS affects 1 in 2,500 females before birth, according to the National Organization for Rare Diseases. In addition to having short stature, girls with TS may have problems with their heart, kidneys, bones, ovaries, breasts, blood vessels, lungs, eyes, ears, teeth, skin, nerves, muscles, digestive system, immune system, and reproductive organs.
Women with TS, don’t develop eggs. As a result, they do not produce any hormones including estrogen. Estrogen is responsible for many bodily changes, including menstruation and sexual characteristics. Without estrogen, women with TS may experience short stature, infertility, low body weight, delayed puberty, menstrual irregularities, and osteoporosis. Women with TS may have normal intelligence and high self-esteem. However, some people with TS have learning disabilities, poor coordination, and difficulty walking. There are several symptoms, including webbing between the fingers and toes, small breasts, heart defects, short height, low voice, underdeveloped ovaries, and low levels of estrogen.
Girls with TS tend to have shorter arms than normal girls. Their shoulders are narrow and not wide enough across the chest. In addition, their legs appear longer than those of normal girls. Her hands and feet may look stubby. Women who have been diagnosed with TS have had surgery to help correct some of these abnormalities.
There are three types of TS:
Type A: Most likely due to complete deletion of the second sex chromosomes. The X chromosome normally contains two copies of genes on it. If it only has one copy remaining, the individual cannot produce any hormones.
Type B: Deletion of part of the X chromosome. Usually results in partial hormone production and incomplete sexual differentiation.
Type C: Duplication of the X chromosome. Hormone production appears to be normal but may result in unusual facial features.
Diagnosis
The first step in diagnosing TS is to establish whether the patient’s condition is sporadic or familial. If the patient’s condition is not inherited, then the doctor should rule out the possibility of pregnancy complications, such as premature ovarian failure or polycystic ovaries, among other conditions. A blood test called karyotype analysis can help determine if the patient has chromosomal aberrations. An ultrasound examination of the uterus and ovaries can reveal the size and number of follicles present, and how they respond to stimulation.
Symptoms
- Short Stature: Women who have Turner syndrome tend to have a shorter height than their peers. Their bone structure is often affected by the missing X chromosome, causing them to have abnormally shaped bones. This results in skeletal abnormalities including small hands and feet, bowed legs, and hip dislocation.
- Infertility: Infertility affects about half of girls diagnosed with TS. Women with Turner syndrome may not ovulate normally, making it difficult to conceive.
- Cognitive Impairment: The brain of women with Turner syndrome tends to develop differently than those without the disorder. As a result, they may experience learning disabilities, attention problems, and behavioral issues.
- Other Symptoms: Other symptoms associated with TS include heart defects, hearing loss, kidney disease, thyroid disorders, and diabetes.
Treatment
- Hormone Therapy: The first line of treatment for Turner Syndrome is hormone therapy. Hormones are naturally occurring chemicals produced by glands in our bodies. These hormones regulate certain processes in our bodies, such as sexual maturation, menstruation, pregnancy, and lactation. Hormone therapy involves taking synthetic versions of these hormones to treat symptoms associated with Turner Syndrome.
- Fertility Drugs: Another option for treating Turner Syndrome is fertility drugs. Fertility drugs are medications given to stimulate ovulation and increase the chances of conception. They may also help prevent miscarriage. However, they do not cure the underlying cause of the problem.
- Surgery: If hormone therapy fails to correct the problems associated with Turner Syndrome, then surgical intervention may be necessary. Surgery includes removing extra breast tissue, enlarging the uterus, and correcting the fallopian tubes.
How To Know If It Is TS?
The prevalence rate of Turner syndrome is estimated at 1/2000 female births. However, since TS affects only girls, the actual number of people affected worldwide is much lower. In order to find out if someone suffers from TS, doctors first need to determine whether or not you’re a girl. If you identify yourself as a woman, then your doctor will likely perform a physical exam to check for any abnormalities. Additionally, blood tests will confirm your gender and evaluate hormone levels. A complete medical workup should be performed to rule out any underlying disorders that could affect your body.
After confirming that you are indeed female, your doctor will look for the following signs:
- Shortened upper arms and legs
- Small breasts
- Abnormal facial features
- Undescended testes
If the above-mentioned symptoms match what you observe, then your doctor will diagnose you with TS.
Frequently Asked Questions
What is Turner syndrome?
Turner syndrome (TS) is a genetic condition caused by missing or abnormal X chromosomes. Women who have TS do not produce enough estrogen, which causes their ovaries to stop producing eggs. As a result, they cannot get pregnant naturally. In some cases, women may need fertility treatments.
How does Turner Syndrome happen?
The cause of Turner syndrome is unknown. However, scientists believe that a combination of genes on both sex chromosomes contributes to its occurrence. Most cases occur spontaneously without having been inherited. A woman with Turner syndrome has two copies of her X chromosome, one from each parent. If she receives no additional X chromosomes, then she has just one copy of her X chromosome.
Who gets Turner Syndrome?
Women get Turner syndrome if they receive just one X chromosome from either of their parents.
How does Turner syndrome affect my body?
Women with TS experience many physical changes due to low levels of estrogen. These changes can vary depending on how severe the symptoms are. Symptoms can include short stature, small breasts, infertility, heart problems, and menstrual irregularities.
How can I prevent these symptoms?
There is no way to completely prevent the effects of TS, but there are ways to reduce them. If you know you have TS, talk to your doctor about hormone replacement therapy (HRT). Hormone replacement therapy helps relieve some of the symptoms associated with TS.
When should I seek medical attention?
If you notice any symptoms related to TS, make sure to visit your doctor immediately. There are many complications that can arise if left untreated.
What happens after treatment?
Once you receive treatment for TS, you’ll likely feel much better. Your bones will become stronger, your heart will function properly, and your menstruation cycle will return to normal. However, some people still experience side effects even after receiving treatment.
When should I tell my doctor if I think I might have Turner Syndrome?
If you suspect you might have Turner syndrome, talk to your healthcare provider. He or she will ask questions about your medical history and perform tests to check for abnormalities. Your doctor may order blood work, ultrasound exams, or x-rays to look at your bones.
Can I treat Turner Syndrome?
There is currently no cure for Turner syndrome. Treatment focuses on helping patients manage the symptoms associated with the disease. Treatments include hormone replacement therapy, surgery, physical therapy, and counseling.
Is Turner Syndrome fatal?
No. People with Turner syndrome live long lives. Many women with Turner syndrome survive well past age 50.
