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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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Overview
Turner syndrome is a chromosomal disorder that usually affects development in females.[1] Symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems.[2] Females without Turner syndrome have 2 full X chromosomes in each of their cells. An individual with Turner syndrome is missing all or part of one X chromosome. Although it is genetic, it is typically not inherited. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome become pregnant.[3]
References
- Learning About Turner Syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed December 14, 2010.
- Turner syndrome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=turnersyndrome. Accessed April 7, 2008.
- Turner syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/turnersyndrome.html. Accessed December 14, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center7 question(s) from the public on Turner syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General 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. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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
- Carel JC, Elie C, Ecosse E, Tauber M, Leger J, Cabrol S, Nicolino M, Brauner R, Chaussain JL, Coste J. Self-esteem and social adjustment in young women with Turner syndrome--Influence of pubertal management and sexuality: population-based cohort study. J Clin Endocrinol Metab. 2006;91(8):2972-2979.
Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005;139(2):57-66.
- The National Institute of Child Health and Human Development Turner syndrome Web site lists a number of Turner syndrome publications. Click on The National Institute of Child Health and Human Development to view this list.
- Frías JL, Davenport ML. Health Supervision for Children With Turner Syndrome. Pediatrics. 2003;111(3):692-702.