Turner's Syndrome

I am a 38 year old female with Turner Syndrome, diagnosed at age 17. Each doctor I have gone to keep on estrogen therapy never seemed concerned with my heart, kidneys or any other possible hidden problems I might have. When I want to discuss tests to ensure my health, they change the subject. My karyotype is 45XO, which indicates pure Turner's, but even my present doctor, who is a specialist, doesn't seem concerned with any other health problems besides hormone therapy. Am I just being overconcerned? From the research I've done it is not uncommon for Turner girls and women to have underlying health problems.

Turner Syndrome is caused by the complete or partial absence of one of the two X chromosomes usually found in women. It effects approximately one in every 3000 women and is either diagnosed at the time of birth, or at the time of adolescence when menstruation fails to begin. It is indicated by minimal sexual development, including the failure of menstruation to begin, and the lack of breast development. Women with Turner Syndrome tend to be short in stature, and have very particular physical characteristics, which are frequently evident at birth. Turner Syndrome has most commonly been treated with estrogen therapy, as a means to encouraging the development of secondary sexual characteristics. Growth hormone is at times given to girls to help a child achieve a greater height.

Women and girls with Turner Syndrome often have other health complications. The most common problems are associated with skeletal, kidney and cardiac anomalies. But these are anomalies with which a woman would be born, rather than ones she would develop later in life. If a woman with Turner Syndrome has, and this is most likely, been under the care of a doctor, she also should have had a complete physical examination which would have identified these problems early on in her life. A small percentage of women with Turner Syndrome have an increased risk for gonadal malignancy (ovarian cancer), which is usually controlled through the removal of the gonads during adolescence.

The only conditions that she might develop later in life, but to which she is especially predisposed to as a person with Turner Syndrome, would be diabetes and Hashimoto's thyroiditis. These are both conditions that can present themselves later in life, and may be overlooked at an earlier age. Common symptoms of diabetes can be excessive thirst, frequent urination, and hunger. Symptoms of Hashimoto's thyroiditis include weight gain, stiff neck, fatigue, facial swelling, and a sensitivity to cold. If a woman with Turner Syndrome experiences these symptoms she can have herself tested for these conditions. Some women with Turner Syndrome have no underlying health complications, but if any woman has a health concern that is not being met, she should follow through on it by seeking a second opinion.

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