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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Turner syndrome


Other Names for this Disease

  • 45, X Syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Schereshevkii Turner Syndrome
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Symptoms

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What are the signs and symptoms of Turner syndrome?

There are various signs and symptoms of Turner syndrome, and they can range from very mild to more severe among individuals with the condition. Girls who have Turner syndrome are typically shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. In early childhood, individuals may have frequent middle ear infections, which can lead to hearing loss in some cases. At puberty, they do not have the usual growth spurt, and the ovaries do not function properly (they do not begin to produce sex hormones). Therefore, most girls with Turner syndrome do not start their periods or develop breasts without hormone treatment. Although most individuals with Turner syndrome are infertile, the vagina and uterus are usually normal. Individuals with Turner Syndrome usually have normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

Additional symptoms of Turner syndrome may include a very wide neck (webbed neck) and a low or indistinct hairline; broad chest and widely spaced nipples; arms that turn out slightly at the elbow; heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart); tendency to develop high blood pressure; and minor eye problems that may be corrected by glasses. Scoliosis (curving of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. Additionally, the thyroid gland becomes under-active in about 10 percent of women with the condition. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop due to a lack of estrogen, but this can usually be prevented by taking hormone replacement therapy.[1]
Last updated: 12/15/2010

References
  1. Learning About Turner Syndrome. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/19519119. Accessed 12/14/2010.


Other Names for this Disease
  • 45, X Syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Schereshevkii Turner Syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.