What Are Symptoms and Risk Factors of Turner Syndrome?


Symptoms of Turner syndrome may vary depending on the conditions:

  • Prenatal ultrasound of a baby with Turner syndrome may show large fluid collection on the back of the neck or other abnormal fluid collections (edema), heart abnormalities, or abnormal kidneys.
  • Signs of Turner syndrome at birth or during infancy may include:
    • Wide or weblike neck
    • Low-set ears
    • Broad chest with widely spaced nipples
    • High, narrow roof of the mouth (palate)
    • Arms that turn outward at the elbows
    • Fingernails and toenails that are narrow and turned upward
    • Swelling of the hands and feet, especially at birth
    • Slightly smaller than average height at birth
    • Slowed growth
    • Cardiac defects
    • Low hairline at the back of the head
    • Receding or small lower jaw
    • Short fingers and toes
  • Symptoms occur by birth or gradually during childhood, the teen years or young adulthood may include:
    • Slowed growth
    • No growth spurts at expected times in childhood
    • Adult height significantly less than might be expected for a female member of the family
    • Failure to begin sexual changes expected during puberty
    • Sexual development that “stalls” during teenage years
    • Early end to menstrual cycles not due to pregnancy
  • For most women with Turner syndrome, inability to conceive a child without fertility treatment

Risk factors

The loss or alteration of the X chromosome occurs randomly. A problem with the sperm or the egg may lead to it. It may also happens early in fetal development. It is not inherited either.

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