Turner syndrome


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Definition

By Mayo Clinic staff

Turner syndrome, a condition that affects only girls and women, results from a missing or incomplete sex chromosome. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to begin puberty, infertility, heart defects and certain learning disabilities.

Turner syndrome may be diagnosed during infancy or early childhood. But, sometimes diagnosis is delayed in adolescent girls or young women with 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.

References
  1. Learning about Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed June 28, 2011.
  2. Davenport ML. Approach to the patient with Turner syndrome. Journal of Clinical Endocrinology and Metabolism. 2010;95:1487.
  3. Saenger P. Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.
  4. Bondy CA. Turner syndrome 2008. Hormone Research. 2009;71(suppl):52.
  5. Clinical features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2011.
  6. Loscalzo ML. Turner syndrome. Pediatrics in Review. 2008;29:219.
  7. Genetic features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/genetic.html. Accessed June 28, 2011.
  8. Ross JL, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. New England Journal of Medicine. 2011;364:1230.
  9. Saenger P. Management of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.
DS01017 Aug. 20, 2011

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