Causes And Complications of Turner Syndrome

Turner syndrome is a genetic condition that occurs when there is a fully or partially missing X chromosome. It only develops in women, as they have two X chromosomes. The severity of the condition varies depending on what parts of the genetic code are missing. Patients may experience various developmental and medical issues in this condition. Turner syndrome is diagnosed through prenatal genetic testing, at birth, or in a child's early years. 

Patients need Turner syndrome treatment. It is the only way for them to have a chance of effectively managing their symptoms. Most patients will receive growth hormone therapy for Turner syndrome. Girls will also require estrogen therapy for Turner syndrome. Receiving estrogen in this way is what allows them to begin puberty. Of course, a specialist team will be chosen based on a patient's symptoms and needs. They should help patients prevent and manage complications of Turner syndrome as well.

Genetic Abnormalities


As they have two X chromosomes, women are the ones who may develop Turner syndrome. This happens when one of their X chromosomes is compromised. Turner syndrome patients will have one healthy X chromosome that carries out all the necessary genetic functions. However, the other will have an altered structure that causes part of the genes to be missing or function abnormally. Some individuals with the condition have no second X chromosome at all. Around half of all Turner syndrome patients only have one X chromosome. The other half have a damaged or rearranged X chromosome. 

For some Turner syndrome patients, the changes only occur in some of their cells. Thus, other cells will have two functional X chromosomes. This is called mosaicism. Its presentation in Turner syndrome is called mosaic Turner syndrome. There still needs to be research to determine exactly which X chromosome genes most significantly affect Turner syndrome symptoms.

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Hypertension, also called high blood pressure, is a common complication of Turner syndrome. Many women with the condition may have hypertension from childhood. However, they may develop it as they age. Hypertension can increase the risk of certain cardiovascular diseases. It can also wear away at the blood vessels, which can have unforeseen complications. This is especially important since Turner syndrome patients are also more predisposed toward heart issues than the average person. 

Hypertension occurs when the blood moves at high pressure through the blood vessels. Normal blood pressure has a systolic reading of 120 or less and a diastolic reading of 80 or less. Slightly elevated blood pressure may be between 120 and 129 over anything less than 80. High blood pressure occurs when the blood pressure reading moves to anything from 130 to 139 over 80 to 89. If the patient's pressure becomes higher than that, it can be serious.

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Heart Problems


Turner syndrome increases the risk of a variety of heart problems. Some may be present from infancy, while others may develop over time. If patients have high blood pressure, they may develop cardiovascular issues as a result. It is common for Turner syndrome to lead to heart defects that can be potentially serious. Even slight heart abnormalities might be cause for concern if they lead to certain health conditions. A child with an abnormal heart might have a higher risk of suffering terrible health complications. 

Some of the most common heart defects involve a malformed aorta. This is the blood vessel that moves off the heart and delivers the oxygen-enriched blood to the body. If there are problems with this blood vessel, the heart may not pump fresh blood properly through the system. Alternatively, an individual might have blood that washes back into the heart instead of flowing in one direction. Other defects might occur within the muscles that make up the heart.

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Hearing Loss


Hearing loss tends to occur in Turner syndrome patients. It is common for patients to have normal hearing at birth, but this may slowly diminish with time. The hearing loss may or may not progress to full deafness. Some of this is because Turner syndrome patients have a higher risk of developing middle ear infections, which can lead to hearing loss. More commonly, though, the loss of hearing happens because a patient progressively loses their nerve function. Studies show that up to eighty percent of individuals with Turner syndrome may experience conductive hearing loss. There are issues with the Eustachian tube that promote ear infections and can lead to nerve damage. 

Conductive hearing loss is not progressive. Some Turner syndrome patients might experience cholesteatomas, which are benevolent growths that can block hearing. Up to ninety percent of Turner syndrome patients experience sensorineural hearing loss. This is a progressive condition. The majority of cases can be treated with cochlear implants or hearing aids. However, the recommended treatment will vary depending on the condition's severity.

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Anywhere from ten to thirty percent of individuals diagnosed with Turner syndrome will develop hypothyroidism. This is a condition in which the body does not have enough thyroid hormone to continue functioning. In Turner syndrome patients, it is usually caused by an autoimmune disorder. This means that the patient's immune system attacks the thyroid or the substances it creates, destroying them. Turner syndrome also prevents patients from using thyroid hormone effectively, which can also lead to this condition. 

Individuals with Turner syndrome have a higher risk of developing hypothyroidism as they age. These patients need to have regular thyroid tests and watch for hypothyroidism symptoms. Some of the most common symptoms are low energy, dry skin, brittle hair and nails, and constipation. Thankfully, once the condition is diagnosed, it is easy to treat with replacement thyroid hormones.


    Katherine MacAulay