Turner Syndrome

Last updated: March 3, 2015

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  • Turner Syndrome Studies by the National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Turner syndrome affects approximately 1 out of every 2,500 female live births worldwide. It embraces a broad spectrum of features, from major heart defects to minor cosmetic issues. Some individuals with Turner syndrome may have only a few features, while others may have many. Almost all people with Turner syndrome have short stature and loss of ovarian function, but the severity of these problems varies considerably amongst individuals.
  • Turner Syndrome Society of Canada was founded in 1981 by an individual with TS who wanted to share experiences and information. It provides support services for individuals with TS and their families and disseminates up-to-date medical information to families, physicians and the general public. [Canada]
  • Turner Syndrome Foundation of the U.S. The goal of the Turner Syndrome Foundation (TSF) is to support research initiatives and facilitate education programs that increase professional awareness and enhance medical care of those affected by Turner syndrome. Early diagnosis and comprehensive treatments over the lifespan may lead to a brighter and healthier future for all young girls and women with Turner syndrome.
  • Turner Syndrome Support Society (TSSS) The TSSS is run by volunteers all closely involved with Turner Syndrome. Membership is not compulsory but offers further benefits and the small membership fee enables TSSS to continue to offer support to others. The publication list gives details of information leaflets and guides that are available from the TSSS. [United Kingdom]
  • Turner syndrome – Wikipedia Turner syndrome or Ullrich–Turner syndrome (also known as "Gonadal dysgenesis":550), 45,X, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent or has other abnormalities (unaffected humans have 46 chromosomes, of which two are sex chromosomes). In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or “Turner mosaicism”.