Turner Syndrome

Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually have the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

  • Causes

    Turner syndrome only occurs in girls and women. Females normally have two X chromosomes. Turner syndrome is most commonly caused by a missing X chromosome. It is usually sporadic, meaning that it is not inherited from a parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter. This is the only situation in which Turner syndrome is inherited.

  • Definition

    Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually have the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

  • Diagnosis

    Depending on its severity, Turner syndrome may first be diagnosed in infancy, childhood, or adolescence.

    The doctor will ask about your symptoms and medical history. A physical exam will be done. A gynecologic exam may also be done.

    Your bodily fluids may be tested. This can be done with blood tests.

    Images may be taken of your reproductive organs. This can be done with ultrasound.

  • Prevention

    There are no guidelines for preventing Turner syndrome.

  • Risk Factors

    There are no known factors that increase the risk of Turner syndrome, other than being female.

  • Symptoms

    The main symptoms of this syndrome include:

    • Short stature—if the disorder is not treated, the average adult is about 4 feet 8 inches tall.
    • Lack of development of the ovaries—the ovaries are the organs that produce eggs for fertilization and female hormones. Most girls with Turner syndrome do not start puberty. Many do not have normal breast development or menstrual periods. Most cannot produce eggs and are infertile.
    Fully Developed Female Reproductive System
    Female Reproductive Organs
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    Other physical features can include:

    • Webbed neck
    • Low hairline in back
    • Abnormal eye features—drooping of eyelids
    • Abnormal bone development, for example a shield-shaped, broad, flat chest
    • Absent or delayed development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair and small breasts
    • Infertility
    • Decreased tearing
    • Absent menstruation
    • A single crease in the palm
    • Absence of normal moisture in vagina
    • Painful intercourse
    • Flat feet
    • Swelling of the hands and feet—mostly noted at time of birth

    Other health conditions that can occur include:

    • High blood pressure, even in childhood
    • Structural heart abnormalities
    • Kidney problems
    • Thyroid problems
    • Osteoporosis
      , which can lead to height loss, curved spine, and broken bones
    • Hearing and other ear problems
    • Impaired sense of visual coordination despite normal intelligence
    • Celiac disease
    • Increased risk for cancer

  • Treatment

    There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include: