Turner Syndrome is a genetic disorder that affects girls and women, causing them to have certain physical characteristics and medical conditions. While there is no cure for Turner Syndrome, treatments are available to help manage the symptoms. This article will discuss what causes Turner Syndrome and its treatment.
Only females are afflicted with the hereditary condition known as Turner Syndrome. It is caused by a chromosomal abnormality that results in a missing or incomplete X chromosome. This disorder can cause physical, emotional, and developmental issues and lead to learning and cognitive processing difficulty.
The exact cause of Turner Syndrome is unknown. But several theories have been proposed. This article will explore the nine possible causes of Turner Syndrome and how it can be treated.
The most common symptom of Turner Syndrome is short stature, although other physical characteristics can also be present. These include a webbed neck, widely spaced nipples, low-set ears, a shielded chest, and a broad lower jaw. Other symptoms can include infertility, heart defects, kidney or urinary tract abnormalities, and hearing loss.
What Causes Turner Syndrome?
An abnormality in the X chromosome causes Turner Syndrome. The most common cause is a complete absence of one sex chromosome (X0) in some or all cells. Other causes include:
Monosomy X (45, X)
A girl inherits only one copy of the X chromosome in each cell instead of two. This can result in a genetic disorder that affects the development of female characteristics. For example, it is the most common cause of Turner Syndrome. When this happens, it is called Monosomy X. This is also known as Turner Syndrome mosaicism. It accounts for around 45% of all cases.
Some girls with Turner Syndrome have an abnormal structure of the X chromosome, such as a missing piece or an extra piece. This is called Structural Abnormalities of the X chromosome. It is estimated that this is the cause of Turner Syndrome in approximately 20-30% of cases. Some girls with this type of Turner Syndrome may have few or no symptoms.
Older mothers are more likely to pass on genetic mutations that may contribute to Turner Syndrome. When embryos are created, the mother’s age can affect the accuracy of genetic replication. It is believed that errors in the replication process can result in some cells not receiving the proper number of sex chromosomes.
Exposure to pollutants such as pesticides and heavy metals may increase the risk of this condition. These toxins can damage the chromosomes, resulting in Turner Syndrome. In addition, when the X chromosome is missing or incomplete, it can cause this condition.
Chromosome abnormalities resulting from translocations, inversions, and other changes can also lead to Turner Syndrome. It’s estimated that these account for about 10 to 20 percent of cases. This chromosomal abnormality is usually seen in the mother’s egg or sperm cell.
Abnormalities in genes associated with development can result in this condition. This includes gene mutations on the X chromosome or those necessary for normal growth and development. For example, this can cause a female to be born with only one X Chromosome instead of the usual two.
Unexplained Chromosomal Abnormalities
Researchers believe that, in some cases, Turner Syndrome is caused by unexplained chromosomal abnormalities. This means that the cause is unknown and has no known genetic basis. It is also possible that the abnormality occurred after conception. When this occurs, the abnormality is called a spontaneous mutation.
This refers to an individual with some cells containing an abnormal number of chromosomes while others do not. It is estimated that mosaicism is present in about 15 percent of cases. If the mosaic pattern occurs in the eggs, it can cause Turner Syndrome. However, it is also possible that a spontaneous mutation in the cells causes the mosaic pattern.
This occurs when part or all of a chromosome forms a ring shape instead of having two arms. It is estimated that this only accounts for less than 1% of cases. When the ring chromosome contains part of the X-chromosome, it can cause Turner Syndrome. This can occur spontaneously or can be inherited.
Knowing the possible causes of Turner Syndrome is important for diagnosis and treatment. In addition, it can help doctors identify which treatment options are best suited for each individual.
How Is Turner Syndrome Treated?
Since there is no cure for this condition, treatment focuses on managing symptoms and providing supportive care such as occupational therapy, speech therapy, and physical therapy for those affected. Hormone replacement therapy is also recommended for women with Turner Syndrome who have not gone through puberty yet or those who are approaching menopause due to low estrogen levels associated with this condition.
Psychotherapy can also help those affected cope with any psychological issues arising from their diagnosis and lifestyle changes needed to manage their health needs effectively. Lastly, surgery may be recommended for correcting certain physical deformities like webbed necks or short stature due to growth hormone deficiency associated with this condition.
In conclusion, Turner Syndrome is a genetic disorder that affects only females and has nine known causes ranging from environmental factors to genetic mutations. Although there is no cure for this condition, it can be managed through hormone replacement therapy, psychotherapy, occupational/speech/physical therapies, and surgery if needed. With proper care and support, individuals with Turner Syndrome can manage their symptoms effectively so they may live healthy lives filled with joy and purpose!