What is Turner Syndrome?
Genetic disorders can cause serious diseases that affect the life of the family and the child. Syndromes are congenital disorders caused by chromosomal deficiency, excess or disorder. Turner syndrome occurs as a chromosomal disorder that is not well known by the society and is seen in women. You can find all the information about the features, symptoms, diagnosis and treatment of this syndrome in the rest of our article.
What is Turner Syndrome?
Turner syndrome is a chromosomal disorder seen in girls. One of the sex chromosomes, the X chromosome, is missing or structurally defective. Signs such as short stature, estrogen (female hormone) deficiency, and infertility occur in individuals with this disease. It is not seen in men.
Turner syndrome is not a contagious condition. It is a syndrome that occurs only as a genetic disorder. This disease should be suspected in short girls and detailed examination should be done under the control of a doctor. Pregnancies with Turner syndrome may be at risk of miscarriage. In obligatory cases, pregnancy can be terminated with the recommendation of a doctor. For this reason, a good gynecological examination and pregnancy follow-up are important.
The factors that cause Turner syndrome are not known exactly. Babies with Turner syndrome can be born from completely healthy parents. Early diagnosis is very important in this syndrome.
What Are the Symptoms of Turner Syndrome?
Turner syndrome, which is caused by a defect in the sex chromosomes, can be seen congenitally in girls. It is caused by a deficiency or defect in the X chromosome. Since Turner syndrome is an inherited disease, the symptoms of this syndrome may appear at birth. In addition to disorders affecting the female organs, it can also cause diseases in other parts of the body such as the heart, bones, nervous system. The symptoms of Turner syndrome may not occur in every individual. Symptoms of Turner syndrome in girls and women include:
short stature,
Developmental delay in bones, cartilage and vertebrae,
Swelling of the hands and feet (lymphedema),
droopy eyelid,
vision problems,
Underdevelopment of the upper jaw,
Structural disorder in the lower jaw,
dimple on palate,
ear drop,
hearing impairment,
Heart and circulatory system diseases (high blood pressure)
Osteoclasis,
Disorders involving the skin,
Increase in the number of moles on the skin,
celiac disease,
upward curved nails,
kidney diseases,
Underactive thyroid gland
Diabetes,
Late puberty or no puberty at all
Inability to see a period
Developmental disorder in reproductive organs, ovaries,
Difficulty in learning (but normal intelligence level),
Low self esteem.
How Is Turner Syndrome Diagnosed?
Turner syndrome is a condition that can be pre-diagnosed with a doctor’s examination, thanks to its distinctive findings. However, the definitive diagnosis is made with some hormonal tests and chromosome analysis. Before birth, the diagnosis can be made by showing the signs of the disease on ultrasound.
Can Turner Syndrome Be Diagnosed During Pregnancy?
Turner syndrome is a disorder that can be diagnosed before birth. Turner syndrome can be suspected thanks to findings that can be seen by ultrasonography such as heart and kidney disorders. In addition to ultrasound findings, a definitive diagnosis is made with amniocentesis, hormonal tests, chromosome analysis and genetic tests.
Can Turner Syndrome Be Treated?
Turner syndrome cannot be completely cured as it is a genetic disorder. However, it is possible to lead a healthy life by applying treatments for the symptoms of the syndrome. There are methods such as hormonal treatments and fertility treatments. Thanks to these treatments, women can lead a normal life. If diseases affecting the thyroid gland, heart, kidneys or other organs have occurred, treatments for them can be applied.
How Long Does a Baby with Turner Syndrome Live?
Women with Turner syndrome can lead a quality and long life according to the findings of the disease. Babies with a low chance of survival are mostly lost during pregnancy. Pregnancy can result in miscarriage. However, babies who do not show severe symptoms are born normally. Disorders such as short stature, growth retardation, diabetes, circulatory system disorders that develop after birth can be improved with various treatment methods. Women with reproductive organ disorders can have children thanks to special treatment methods.
Can Women with Turner Syndrome Become Mothers?
Some girls with Turner syndrome do not reach puberty. There may be problems such as lack of estrogen, inability to see menstruation. Women with this syndrome are less likely to become pregnant normally because their egg cells are defective or few in number. Women with Turner syndrome who are considering becoming mothers should seek medical support.
Which Chromosome Disorders Cause Turner Syndrome?
Turner syndrome results from a deficiency or disorder of the X chromosome. Women have XX chromosomes and men have XY chromosomes. In other words, the X chromosome is found in the egg of women and in the sperm of men. This disease is caused by a structural defect in the reproductive cells of the mother or father. It is a genetically inherited disorder. However, its symptoms can occur in adulthood.
Does Turner Syndrome Affect Men?
Turner syndrome is a disorder that only affects women. It is a disease that affects the second X chromosome. Males have one X chromosome. For this reason, there is no possibility of Turner syndrome in men. In girls, symptoms of this syndrome can be seen in the womb or after birth.
At What Age Does Turner Syndrome Occur?
Turner syndrome is a congenital inherited disease. This syndrome occurs in the womb. However, the symptoms of the syndrome are not the same for everyone, and the age at which the symptoms will appear may be different. Symptoms may occur for the first time in infancy or may occur in adulthood. Sometimes, findings can be seen with the ultrasound method in the mother’s womb, as well as symptoms may occur after birth or in advanced ages.
Does Turner Syndrome Cause Other Diseases?
Turner syndrome is a disorder that affects many organs and systems in the body. Depending on this syndrome, developmental disorders, growth disorders, digestive system diseases, hearing and visual disorders, heart diseases, hormonal disorders, thyroid gland diseases, tooth and jaw structure disorders may occur.
Is Turner Syndrome Contagious?
Turner syndrome is not transmitted from person to person as it is a congenital disorder related to heredity. It is a disease that cannot be transmitted by air, contact or sexually. People with this syndrome do not need to be protected because they are not at risk of transmitting the disease. They can continue their lives normally.
Having knowledge about genetic diseases is extremely important for the future life of the family and the baby. Turner syndrome is a disorder that can occur in children born to completely healthy parents. Women with Turner syndrome can also become mothers as a result of necessary treatments. For this reason, it is necessary to carry out a pregnancy examination and pregnancy follow-up by a specialist doctor. For detailed information about Turner syndrome, you can apply to the gynecology and obstetrics clinics and be examined.
Page content is for informational purposes only. Items containing information on therapeutic health care are not included in the page content. Consult your doctor for diagnosis and treatment.
