What are the symptoms of Turner syndrome?

Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, but these characteristics are underdeveloped compared to the typical female. Turner syndrome can affect:1

  • 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 issues. The most common one is hypothyroidism, or an underactive thyroid gland.
  • Cognitive. People with Turner syndrome have normal intelligence. Some, however, have challenges learning mathematics or with visual-spatial coordination (such as determining the relative positions of objects in space).

Citations

  1. Turner Syndrome Society. (2017). Clinical practice guidelines for the care of women and girls with Turner syndrome. European Society of Endocrinology, 117:3, G1-G70. Retrieved 11/29/2017 from http://docs.wixstatic.com/ugd/8fb9de_905ef4f4146a487a9f7031a319b85fe2.pdf external link (PDF 1.4 MB).
  2. Intersex Society of North America. (n.d.). Turner syndrome. Retrieved June 14, 2012, from http://www.isna.org/faq/conditions/turner external link
  3. Bondy, C. A. (2007). Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology & Metabolism, 92, 10-25.
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