Turner syndrome is a rare condition that occurs in females as the result of an abnormality in one of the X chromosomes. Symptoms of the disorder generally develop by the age of five and can range from mild to severe. The most common symptoms include being shorter in height than girls of the same age, vision and hearing problems, kidney issues, infertility, and heart defects. Turner syndrome is a genetic disease that cannot be cured, though symptoms can be managed, and many individuals with the syndrome have a life expectancy very close to that of the general population. Quality of life and life expectancy can be improved with regular monitoring checkups and advanced treatment options.The treatments outlined below may be useful for patients.
Estrogen Replacement Therapy
In the majority of cases, Turner syndrome causes delayed or absent puberty. Estrogen replacement therapy is needed to induce puberty and achieve healthy sexual functioning throughout life. Most patients with this syndrome begin estrogen replacement at the end of their childhood growth phase, generally between eleven and fourteen years old. Estrogen is taken from this point until ages forty-five to fifty-five, the average age range of menopause. In addition to inducing menstruation, estrogen replacement allows girls to have healthy breast development. This is important as many girls with this disease have underdeveloped breasts. Patients most commonly take estrogen replacement therapy as a pill or as a patch placed on the skin.
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Heart problems are a major concern in this condition. Studies have shown between twenty-five to fifty percent of patients with the condition have congenital heart defects. These most often include a narrowing of the aorta, problems with the aortic arch, or the presence of a bicuspid aortic valve. Turner's patients should be seen by a cardiologist and monitored with echo-cardiogram or cardiac MRI studies, and cardiovascular surgery may be required to address particular heart concerns. Patients who do not have congenital heart defects are still at an elevated risk for high blood pressure, diabetes, and heart disease. Serious cardiac complications such as aortic dissection can occur during pregnancy, and they require emergency cardiovascular surgery.
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Blood Pressure Medication
High blood pressure (hypertension) is a major risk factor in the development of cardiovascular disease. Patients with this syndrome already face an increased risk of cardiovascular events, and it is therefore particularly important for these patients to be screened for and treated for high blood pressure. Studies of patients with this condition have shown high blood pressure commonly begins in childhood. Blood pressure measurements should be taken regularly at pediatric office visits, and the doctor may suggest office measurements be compared with measurements taken at home or through a twenty-four-hour ambulatory monitoring unit. High blood pressure is diagnosed if three readings taken on different days are all high.
Estrogen therapy can increase blood pressure readings, so patients undergoing this treatment should be especially vigilant about monitoring their blood pressure and attending regular screenings. Dietary changes and weight loss may help control blood pressure, but blood pressure medications are needed in many cases. Medications such as diuretics, beta blockers, vasodilators, and ACE inhibitors can all be used to treat high blood pressure. The side effects of these blood pressure medications are generally mild, and the dosage or medication type can be altered by the doctor if needed.
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Hearing Specialist Treatment
Individuals affected by Turner's syndrome experience more ear infections and have a higher risk of hearing loss than the general population. In particular, as many as eighty-eight percent of these patients commonly experience chronic infections of the middle ear (otitis media) during childhood and early adolescence. While these infections can typically be treated with antibiotics, sometimes surgery to insert tubes into the ears for fluid drainage is needed. If left untreated, chronic ear infections can result in hearing loss. In adulthood, up to ninety percent of patients with the condition may experience some degree of sensorineural hearing loss. This type of hearing loss usually gets worse with age and is treated with hearing aids or cochlear implants. Experts recommend patients have their hearing evaluated by a specialist at least once every five years, even if they do not show any symptoms of ear infections or hearing loss. Any ear infections that may develop should be treated aggressively to prevent hearing loss. Available hearing specialist treatment includes custom hearing aids and advanced ear surgery.
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Mental Health Treatment
Turner's patients may face many challenges throughout their lifespan that benefit from mental health treatment such as group or individual therapy. Some studies have indicated these individuals may have a higher than average risk of attention deficit disorder, a condition that may benefit from intervention by a behavioral health specialist. Mental health treatment for girls with Turner syndrome can help them cope with the anxiety that may come with certain aspects of the condition, such as infertility and heart problems. Speech therapists and other behavioral and occupational health specialists can help support patients in dealing with any speech or learning concerns that may arise.
Mental health services may also be appropriate for families of patients with the disease, and a variety of support groups for various ages are available. Mental health support can be received in individual, family, or group settings, depending on patient preference. Cognitive behavioral therapy and other forms of counseling can help patients and caregivers learn effective coping strategies. If needed, medication for anxiety, depression, and attention deficit disorder can be used to provide patients with an additional source of support in facing challenges. While mental health screening may not always be conducted, patients are encouraged to visit a mental health professional if they have concerns or feel in need of support.