Understanding The Causes And Complications Of Turner Syndrome
Turner syndrome is a genetic condition! It is the result of a compromised or missing X chromosome. This condition appears in women and not men, because women are born with two X chromosomes. Turner syndrome patients will only have one working X chromosome! The condition varies between patients, as it depends on what parts of their chromosomes are missing. It is often diagnosed when patients are born. If not, it is caught early in their childhood!
Turner syndrome causes many physical and developmental issues. Thankfully, there are many options for Turner syndrome treatment! Individuals receive growth hormone therapy for Turner syndrome. This is crucial for their thyroid! Estrogen therapy for Turner syndrome is vital for patients to begin puberty. Of course, individuals need a variety of Turner syndrome specialists to manage all of their symptoms. This team varies over time as their symptoms change. They are essential for symptom management as well as dealing with Turner syndrome complications!
Genetic Abnormalities
Turner syndrome occurs when one of a woman's X chromosomes is compromised! One healthy X chromosome will perform the needed genetic functions. However, the other one has a compromised structure! Part of the genes will be missing. They will also function abnormally! Certain Turner syndrome patients even have no second X chromosome. In fact, they account for fifty percent of all cases of this condition!
The genetic abnormalities only occur in some cells for certain patients. This means that some of their cells will have two working X chromosomes. When this happens, it is called mosaic Turner syndrome. It is also worth noting that more research must be done on this condition. Doctors need to determine which chromosomes have the most significant influence on the symptoms of this condition!
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Hypertension
Many Turner syndrome patients experience hypertension as a complication. This means that they have high blood pressure! Many women will have had this complication start in their childhood. However, it is important to be aware that it will still develop later! High blood pressure increases the risk of heart problems, including heart disease, in individuals with Turner syndrome. High blood pressure is especially dangerous in Turner syndrome patients since they are already at a higher risk of heart issues!
Individuals have hypertension when their blood pressure is 130 to 139 systolic over 80 to 89 diastolic. This reading is typically presented as 130/80. Of course, their blood pressure can be even higher. When this happens, it is particularly serious!
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Heart Problems
As mentioned, Turner syndrome patients are at a higher risk of heart problems! Several of these problems will be present from birth or early in the patient's infancy. Other heart problems develop as time passes! High blood pressure makes this risk even larger. Heart issues are a major complication since many of the ones that Turner syndrome patients experience are severe. Heart abnormalities put these individuals at a higher risk of many other health complications!
The most common heart defects in this condition are related to the aorta. This is the blood vessel that delivers oxygen-rich blood from the heart to the rest of the individual's body! A malformed aorta means that the heart cannot pump blood through the patient's body effectively. Many individuals also find that their blood goes back into their heart instead of flowing in only one direction. Other defects that Turner syndrome patients experience involve issues with the heart's muscles!
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Hearing Loss
Many individuals with Turner syndrome will deal with hearing loss. Patients have normal hearing at birth, but it will diminish as they age. However, hearing loss in Turner syndrome patients does not always result in complete deafness. This complication occurs for two reasons. One is that these patients experience frequent middle ear infections. Their risk of hearing loss increases with each ear infection! The second and most common reason that they deal with hearing loss is due to the nerves. Turner syndrome patients lose nerve function over time! Eustachian tube issues increase ear infections and result in nerve damage, which triggers hearing loss.
It is worth noting that eighty percent of Turner syndrome patients deal with conductive hearing loss. This is not progressive! Certain growths in the patient's ears block their hearing. An example of progressive hearing loss in individuals with this condition is sensorineural hearing loss, which is treatable with hearing aids and cochlear implants!
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Hypothyroidism
Up to thirty percent of individuals with Turner syndrome must deal with hypothyroidism. This complication means that the patient's thyroid is not functioning properly. In many cases, an autoimmune disorder has caused the patient's immune system to attack their thyroid. It will not make enough thyroid hormone anymore. Turner syndrome itself also prevents a patient's body from using thyroid hormone effectively. This also causes hypothyroidism to develop!
The risk of hypothyroidism increases as Turner syndrome patients age. Thus, they need to have their doctor check their thyroid regularly! Monitoring themselves for symptoms is also vital. Symptoms of note include brittle hair and nails, constipation, low energy, and dry skin. The good news is that treatment with replacement thyroid hormone is extremely effective!