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Turner syndrome

Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.

Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.

Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.

Symptoms Causes Risk factors Complications

Signs and symptoms of Turner syndrome may vary significantly.

Before birth

Prenatal ultrasound of a baby with Turner syndrome may show:

  • Large fluid collection on the back of the neck or other abnormal fluid collections
  • Heart abnormalities
  • Abnormal kidneys

At birth or during infancy

In some girls, a number of physical features and poor growth are apparent early. Signs of Turner syndrome at birth or during infancy may include:

  • Wide or weblike neck
  • Receding or small lower jaw
  • High, narrow roof of the mouth (palate)
  • Low-set ears
  • Low hairline at the back of the head
  • Broad chest with widely spaced nipples
  • Short fingers and toes
  • 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
  • Delayed growth

In older girls, teens and young women

For some girls, the presence of Turner syndrome may not be readily apparent. Signs and symptoms in older girls, teenagers and young women that may indicate Turner syndrome include:

  • No growth spurts at expected times in childhood
  • Short stature, with an adult height of about 8 inches (20 centimeters) less than might be expected for a female member of her family
  • Learning disabilities, particularly with learning that involves spatial concepts or math, though intelligence is usually normal
  • Difficulty in social situations, such as problems understanding other people's emotions or reactions
  • Failure to begin sexual changes expected during puberty — due to ovarian failure that may have occurred by birth or gradually during childhood, adolescence or young adulthood
  • 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

When to see a doctor

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. So it's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if you believe your daughter shows signs of Turner syndrome or if you have concerns about her physical, sexual or behavioral development.

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