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Turner syndrome

  • Alternative Names

    Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X


    Possible symptoms in young infants include:

    • Swollen hands and feet
    • Wide and webbed neck

    A combination of the following symptoms may be seen in older females:

    • Absent or incomplete development at puberty, including sparse pubic hair and small breasts
    • Broad, flat chest shaped like a shield
    • Drooping eyelids
    • Dry eyes
    • Infertility
    • No periods (absent menstruation)
    • Short height
    • Vaginal dryness, can lead to painful intercourse

    Signs and tests

    Turner syndrome can be diagnosed at any stage of life. It may be diagnosed before birth if chromosome analysis is done during prenatal testing.

    The doctor will perform a physical exam and look for signs of underdevelopment. Infants with Turner syndrome often have swollen hands and feet.

    The following tests may be performed:

    • Blood hormone levels (luteinizing hormone and follicle stimulating hormone)
    • Echocardiogram
    • Karyotyping
    • MRI of the chest
    • Ultrasound of reproductive organs and kidneys
    • Pelvic exam

    Turner syndrome may also alter various estrogen levels in the blood and urine.