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Turner Syndrome FAQ: Part 1

Answers to Your Most Common Questions

What is Turner syndrome?
Turner syndrome (TS) is a condition that affects approximately 1 out of every 2,000 girls in the US. It is caused by the complete or partial lack of one of the female sex chromosomes. This results in a range of complications, including stunted growth and development, an increased risk of heart and kidney problems, and infertility.

One of the defining characteristics of TS is that it affects the ovaries—the primary female gonads or sex glands. Abnormal development or premature insufficiency of the ovaries affects the glands' ability to produce monthly ovulation and estrogen. This can result in a variety of problems, including infertility, irregular or non-existent menstrual periods, early menopause, and osteoporosis.

To learn more, read our Turner syndrome overview.

What are the signs and symptoms of Turner syndrome?
With Turner syndrome, certain physical signs will alert your doctor to the possibility that you have the condition. These include:

  • Short stature: The most common sign of TS—the average height is 4 ft 8 in
  • Undeveloped sex features: Lack of breast development, delayed menstruation, undeveloped feminine body shape
  • Mouth and jaw abnormalities: High-arched roof of mouth, crowded teeth, and receding lower jaw
  • Broad chest
  • Droopy eyes
  • Low-set ears
  • Webbed neck: Extra skin around the neck
  • Low hairline: Hair extends down back of the neck toward the shoulders
  • Fingernails and toenails that point slightly upward
  • Swollen hands and feet: Usually present at birth

To learn more, please read our article on the symptoms of Turner syndrome.


What causes Turner syndrome?
Turner syndrome (TS) is caused by a defect of the second female sex chromosome.

Your sex chromosomes determine your biological sex. Each chromosome contains genes that control your physical and hormonal features. If you have Turner syndrome, certain features will not develop or function as they should because you're missing all or part of a chromosome.

To get more details on this, please read our article on the causes of Turner syndrome.

Not finding the information you were looking for? Continue reading Turner Syndrome FAQ: Part 2.