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.
Aug. 23, 2014
- Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed July 22, 2014.
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- Turner syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/index.html. Accessed July 22, 2014.
- Saenger P. Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home. Accessed July 22, 2014.
- Milbrandt T, et al. Turner syndrome. Pediatrics in Review. 2013;34:420.
- Saenger P. Management of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home. Accessed July 22, 2014.
- Turner Syndrome Society of the United States. http://www.turnersyndrome.org/. Accessed July 26, 2014.
- Wick MJ (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 1, 2014.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. July 27, 2014.
- Freriks K, et al. Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome. European Journal of Endocrinology. 2013;168:91.
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