Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.

Turner syndrome can affect:

  • Appearance. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward.
  • Stature. Girls with Turner syndrome grow more slowly than other children. Without treatment, they tend to have short stature (around 4 feet, 8 inches) as adults.
  • Puberty. Most girls with Turner syndrome do not start puberty naturally.
  • Reproduction. In most girls with Turner syndrome, the ovaries are missing or do not function properly. Without the estrogen made by their ovaries, girls with Turner syndrome will not develop breasts. Most women with Turner syndrome cannot become pregnant without assistive technology.2
  • Cardiovascular. Turner syndrome can cause problems with the heart or major blood vessels. In addition, some women and girls with Turner syndrome have high blood pressure.
  • Kidney. Kidney function is usually normal in Turner syndrome, but some people with this condition have kidneys that look abnormal.
  • Osteoporosis. Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis. Osteoporosis can cause height loss and bone fractures.
  • Diabetes. People with Turner syndrome are at higher risk for type 2 diabetes.
  • Thyroid. Many people with Turner syndrome have thyroid problems. The most common one is hypothyroidism or an underactive thyroid gland.
  • Cognitive. People with Turner syndrome have normal intelligence. Some, however, have problems learning mathematics and can have trouble with visual-spatial coordination (such as determining the relative positions of objects in space).

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