Treatment Options For Turner Syndrome

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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Cardiovascular Surgery

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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