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Diseases

Genetic and Rare Diseases Information Center (GARD)

Turner syndrome


Other Names for this Disease
  • Ullrich-Turner syndrome
  • Bonnevie-Ulrich syndrome
  • 45, X Syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
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Overview

Turner syndrome is a chromosomal disorder that affects development in females. It results when a female's cells has one normal X chromosome and the other X chromosome is either missing or structurally altered (females without Turner syndrome have two normal X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant.[1][2]
Last updated: 7/13/2016

References

  1. Turner syndrome. Genetics Home Reference. January, 2012; http://ghr.nlm.nih.gov/condition/turner-syndrome.
  2. Learning About Turner Syndrome. NHGRI. September 24, 2013; http://www.genome.gov/19519119.
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Basic Information

  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
  • Genetics Home Reference (GHR) contains information on Turner syndrome. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic Web site provides further information on Turner syndrome.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Turner syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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