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What is Turner Syndrome?

written by: Kathy Foust•edited by: Leigh A. Zaykoski•updated: 7/30/2009

Read information in layman's terms on what Turner Syndrome is and what the symptoms of it are.

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    What is Turner Syndrome?

    Turner Syndrome is a condition that solely affects females. It is a chromosomal issue that is based on the absence or underdevelopment of the second sex chromosome. Normally, the sex is determined by sex chromosomes of the person. Those who are born female have two X chromosomes (XX). Males are born with one X and one Y chromosome (XY).

    Individuals born with Turner syndrome are either born with one X or one full X and one partial X. The problem with the second X will most likely cause fertility and development issues as the individual ages.

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    Signs and Symptoms of Turner Syndrome

    In order for the existence of this condition to be diagnosed, the chromosomes must be counted by a professional. But before that's done, there are usually some early signs and symptoms of the presence of this syndrome. Some of these are listed below.

    • low hairline (The hairline on the neck may grow closer than normal to the shoulders.)
    • short stature
    • broad chest
    • elbows that are curved outward
    • excess skin on the neck
    • swollen hands and feet
    • heart problems
    • delayed growth or development
    • lack of menstrual cycle or irregularities in the menstrual cycle
    • infertility
    • scoliosis
    • flat feet

    These are only some of the symptoms of the syndrome. Each individual is different and will have symptoms specific to them. The most common of these symptoms are the issues that occur during puberty and womanhood.

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    Puberty and Turner Syndrome

    The most probable issues that have to do with Turner syndrome are those that occur during puberty. The lack of a fully developed second sex chromosome causes these problems. Some of the Turner syndrome facts that relate to puberty are listed below.

    • Slow growth and development. The lack of the second sex chromosome delays the process of puberty, when so many different changes are taking place. Female features such as breasts and curved hips may be slow to develop as well as a delay in height development.
    • Lack of menstrual cycle. As a young woman develops, her menstrual cycle comes with her puberty. Since it is normal with this syndrome for all other aspects of puberty to be delayed, it is also likely that the menstrual cycle will either be delayed or erratic in its pattern.
    • Lack of hormone development. As mentioned above, the changes that occur during puberty may be slow in progressing. Some characteristics may not develop at all without medical assistance.

    Though the woman may have developmental delays, some of these issues may be resolved by using estrogen treatments. Even so, the woman may have a lack of some feminine characteristics that normally begin during puberty. Fertility is often an issue for women with Turner syndrome. Estrogen therapy is likely to be continued well into menopause.

    References: Turner Syndrome Society

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    Sample contents.