Turner Syndrome is a type of genetic disease that is seen in girls and is caused by a deficiency or structural disorder of the X chromosome. 1 out of every 2500 girls in the world is born with Turner Syndrome. Turner Syndrome is a disease that causes sexual developmental delay and short stature in girls.
In girls with Turner Syndrome, loss of function occurs in the ovaries due to sexual developmental delay. Girls with Turner Syndrome do not have a problem with their intelligence. However, some people with the syndrome may experience behavioral disorders, developmental delays, or learning problems. People with Turner Syndrome may experience difficulties in driving, lack of self-confidence, inability to socialize, lack of attention, difficulty in perceiving social events, and difficulty in finding direction.
What causes Turner Syndrome in girls?
Turner Syndrome is caused by abnormal genetic characteristics inherited from the mother and father. A deficiency or structural defect in the X chromosome can occur for various reasons. Turner Syndrome is basically of two different types. One of them is Classic Turner Syndrome and the other is Mosaic Turner Syndrome.
The complete absence of one of the X chromosomes is called Classic Turner Syndrome (monosomy). Classic Turner Syndrome is caused by an error in the mother’s egg or the father’s sperm. The structural defect of one of the X chromosomes is called Mosaic Turner Syndrome (Mosaism). Mosaic Turner Syndrome is caused by structural disruption in one of the 2 X chromosomes during cell division.
Why is Turner Syndrome only seen in girls?
Because boys and girls have different chromosomes. A healthy girl has 2 X chromosomes. One of these chromosomes is inherited from the mother and one from the father. Boys have one X and one Y chromosome. For this reason, Turner Syndrome is a genetic disease that is only seen in girls.
However, Klinefelter Syndrome, a type of disease with similar characteristics, is also seen in men. Klinefelter Syndrome is caused by having an extra X chromosome in boys. In men with Klinefelter Syndrome, the sex hormone is secreted less than normal and sperm production is limited.
What are the symptoms of Turner Syndrome in girls?
- abnormality in the heart
- cardiovascular system problems
- Abnormalities in the kidneys (horseshoe-like kidney structure)
- Fluid collection or abnormal edema formation in the back of the neck
The prenatal symptoms of Turner Syndrome are as above. The symptoms of Turner Syndrome can differ from person to person, and in some people the symptoms are quite difficult to understand. In some girls, symptoms may appear at an early age. Turner Syndrome can manifest itself with various symptoms before birth, during childhood, adolescence and adulthood.
Symptoms of Turner Syndrome in infants, children and teenagers:
- wide neck
- low ears
- difficulty swallowing
- not gaining weight
- developmental delay
- swelling in the hands and feet
- Abnormal short stature in the baby
- Low hairline on the nape
- Shortness of fingers and toes (especially seen in the 4th finger of the hand and the 3rd toe of the foot)
- Abnormal fingernails and toenails (nails curve upwards)
- Sexual development stalled at puberty
Symptoms of Turner Syndrome in adulthood:
- Height less than 140 cm
- osteoporosis
- early menopause
- Insufficiency of egg cells
- Deficiency in hormones
- inverted nipples
- inability to get pregnant
- inability to menstruate
How to diagnose Turner Syndrome in girls?
If the presence of Turner Syndrome is suspected in infants or children, the disease is diagnosed by performing a blood test and chromosome analysis. In addition, various tests can be performed by taking skin samples from babies and children with suspected Turner Syndrome.
Before birth, some features of the baby seen on ultrasound help to obtain information about Turner Syndrome. In addition, the diagnosis of Turner Syndrome can be made by examining the baby’s chromosomes by the doctor with tests such as karyotype, prenatal DNA screening, chorionic villus sampling and amniocentesis.
How is Turner Syndrome treated?
Treatment of Turner Syndrome differs according to the age of the person with the syndrome. Growth and developmental retardation can be stopped with growth hormone therapy in girls with Turner Syndrome. In girls with Turner Syndrome, growth hormone therapy can be started at an early age and the growth in their height and bones can be improved.
In addition to growth hormone, Oxandrolone hormone is also used in the treatment of some children with Turner Syndrome. Oxandrolone hormone helps to increase protein production and mineral density in the body. When the girl with Turner Syndrome reaches the age of 11-12, estrogen therapy is applied.
Estrogen therapy provides benefits such as bone mineralization, breast development, and height growth. Estrogen therapy is a treatment method that should be continued until menopause in people with Turner Syndrome. Obesity can be seen especially in children and young people with Turner Syndrome. In order to prevent the progression of obesity, healthy life and nutrition recommendations should also be included in the treatment.
Obesity also causes many diseases such as diabetes and high blood pressure. Therefore, if the person with Turner Syndrome is overweight, it should be included in the nutrition program and exercise treatment methods. If the person with Turner Syndrome is diabetic, drug treatment can also be applied to the person. Hormone therapy is also required in women who learn that they have Turner Syndrome during pregnancy. In these people, the uterus is prepared for pregnancy with hormone therapy.
In women with Turner Syndrome, pregnancy does not occur due to amenorrhea and a lack of estrogen. Pregnancy can be achieved with egg and embryo donation in women who cannot become pregnant due to Turner Syndrome. In addition, in vitro fertilization and PGD method are among the treatment methods used in the pregnancy of women with Turner Syndrome.
Pregnancy of women with Turner Syndrome carries a high risk. For this reason, women with Turner Syndrome should consult a doctor before pregnancy.
In this content, we answered questions such as what is Turner Syndrome seen in girls and what are its symptoms. Remember that as with all health issues, you should get the most accurate and specific information about Turner Syndrome from a specialist physician.
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