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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