Turner Syndrome is a condition with lifelong consequences that affects girls only. Nearly one out of 2,500 girls is diagnosed with the condition, and if it is not caught early, they can suffer from physical abnormalities, learning disabilities, and more.
What Causes Turner Syndrome?
While the exact cause of the syndrome is unknown, scientists do know that it is linked to female chromosomes. In a healthy female, there are two X chromosomes present, but in a female with Turner Syndrome, one of the chromosomes is malformed or missing altogether. The missing or deformed chromosome can affect the body in many ways and can manifest symptoms of varying severity depending on how many of the body’s cells are affected by the defect.
A girl that is suffering from Turner Syndrome will typically be stunted in growth. She will be short in stature and will fail to transition through puberty. This is because many of the hormones responsible for growth and development are not present in girls with Turner Syndrome. The female hormone estrogen, for instance, is produced by the ovaries and is responsible for all phases of puberty including breast development, menstruation, and fertility. Without this vital hormone, females will not develop sexually and will not be able to have children.
Problems Caused By Turner Syndrome
There are many other problems associated with Turner Syndrome including heart problems, high blood pressure, kidney problems, weight problems, hearing difficulties, cataracts, diabetes, thyroid dysfunction, and learning disabilities. Girls with Turner Syndrome may also have a unique set of physical differences that set them apart including a webbed neck, a low hairline at the nape of the neck, drooping eyelids, low set and differently shaped ears, abnormal bone development, and moles.
How Turner Syndrome Is Diagnosed
The test to diagnose Turner Syndrome is a blood test called a karyotype. This test counts the chromosomes present in the blood and checks for missing or abnormal ones. A diagnosis can be made at any stage in life from infancy to adulthood and is generally reached if signs of the syndrome are detected. While some girls with physical characteristics of Turner Syndrome are diagnosed early in life, the majority of them are diagnosed after they fail to progress through puberty normally.
Turner Syndrome Cure
There is no cure for Turner Syndrome, but most girls that receive early treatment lead normal, healthy lives. Growth hormone is administered to combat the short stature associated with the disorder. Without growth hormone, most girls with Turner Syndrome only grow to a height of 4 feet 7 inches. Estrogen replacement therapy can also be used to induce puberty, but even so nearly all women with this syndrome are infertile. Many women are able to carry children, though, through a procedure called in vitro fertilization in which another woman’s egg is fertilized and then placed into the affected woman’s uterus.
Since there are many other health concerns associated with Turner Syndrome, it is extremely important to undergo screenings for all of the health conditions mentioned above after a positive diagnosis has been made. Continued treatment throughout life is also needed as these conditions can develop later in life.
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