What Are The Causes And Complications Of Turner Syndrome?

Turner syndrome appears to be a condition in which patients have issues with their second X chromosome. The second X chromosome is only found in women. It may have missing pieces or be completely missing in Turner syndrome. Patients may deal with different levels of severity with this condition, depending on what parts of their genes are missing. This may also cause various medical and developmental issues. Patients can be diagnosed at different times, including before birth with prenatal testing, at birth, or during early childhood.

There does not appear to be a cure for Turner syndrome currently. However, Turner syndrome treatment is essential to manage symptoms and prevent complications. Growth hormone therapy for Turner syndrome seems to be the most common treatment method. Most patients may require estrogen therapy for Turner syndrome if they want to start puberty. Since a patient's needs can evolve as they age, they will likely require a changing team of medical specialists to address their symptoms. Ideally, this team will be able to help prevent complications of Turner syndrome.

Genetic Abnormalities

Women appear to be the only ones who can get Turner syndrome, as they are the ones who are born with two X chromosomes. This syndrome seems to be the result of a compromised X chromosome. The compromised chromosome may have an altered structure. Parts may be missing. In fact, it looks as if as many as fifty percent of patients have just one X chromosome and not two. Another possibility is a compromised chromosome that may not work the way that it should. However, it seems that all Turner syndrome patients have one healthy X chromosome.

Some individuals with this condition may find that the changes are only present in some of their cells. If this is indeed the case, they likely have what is called mosaic Turner syndrome. It may also be worth noting that more research seems to be necessary for this condition. Doctors may still need to determine which X chromosomes are the most significant in their effects on Turner syndrome symptoms.

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Hypertension

An individual may have high blood pressure if their reading is 130/80 or higher. The systolic number, which is the top one, should be 130 to 139, though it can be higher. The diastolic number should be 80 to 89, though once again, it may also be higher. High blood pressure, which may be referred to as hypertension, may appear as a Turner syndrome complication.

It seems that many girls with this condition may have dealt with high blood pressure during their childhood. Others may deal with it as they age. High blood pressure does not seem to be a simple complication. It can increase an individual's risk of several heart issues, including heart disease. This can be unfortunate for Turner syndrome patients, as doctors seem to consider them to be at a high risk of heart issues due to their condition already.

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Heart Problems

As mentioned, it seems that individuals with Turner syndrome are at a higher risk of experiencing heart problems. Some of thee heart issues may be present since their birth or early infancy. However, some Turner syndrome patients may develop heart problems as they age. For instance, having high blood pressure can increase their risk of future issues. Additionally, it appears as if patients with this condition commonly have severe heart defects. However, even slight issues can cause serious complications.

It seems that the most common defects in Turner syndrome patients involve the aorta. This blood vessel can be malformed. Thus, it may not allow the heart to pump oxygenated blood throughout the body properly. It may also cause blood to flow back into the heart instead of in one direction. Another possible defect may be the result of issues with the muscles in the heart.

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Hearing Loss

Individuals with Turner syndrome may also deal with some hearing loss. Babies with this condition may hear normally when they are born. However, this may not last, as their hearing can lessen over time. Some patients will become fully deaf, though this does not seem to be the case all of the time. There appears to be more than one potential reason for hearing loss in Turner syndrome patients. These individuals can experience more frequent middle ear infections than those without the condition. Increased ear infections may often lead to compromised hearing in the short term, and the loss of hearing in the long term. This may be because the infection stops bones in the ear from vibrating and transmitting sound the way they should.

However, it seems that a loss of nerve function in the ear is more common. This can be due to ear infections and Eustachian tube issues. If the patient's hearing loss is progressive, they may be able to restore it with hearing aids or a cochlear implant. An individual's hearing loss may also be sudden rather than progressive. In these cases, something might be blocking their hearing, such as cholesteatomas or other ear growths.

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Hypothyroidism

It seems as if at least ten percent of Turner syndrome patients develop hypothyroidism. However, this may increase to thirty percent. Hypothyroidism means that an individual is not producing enough thyroid hormone. They may also not use what they have efficiently. It appears that individuals with Turner syndrome usually have an autoimmune condition that causes hypothyroidism to occur. In any case, their immune system will likely attack their thyroid or the hormones directly. Both cases can cause a lack of thyroid hormone.

Turner syndrome patients seem to be at a higher risk of hypothyroidism than others as they age. Due to this, patients may want to consider having their thyroid checked regularly. They may also want to observe themselves for symptoms. These symptoms may include dry skin, constipation, brittle hair, low energy, and brittle nails. If doctors are able to catch hypothyroidism early, they may be able to treat it effectively with replacement thyroid hormone.