Turner syndrome

Common Name(s)

Turner syndrome, 45, X, Monosomy X

Turner syndrome is a chromosomal disorder that usually affects development in females. 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. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Turner syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 30 Oct 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 7 Nov 2013

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Turner Syndrome Foundation, Inc.

The goal of the Turner Syndrome Foundation (TSF) is to support research initiatives and develop programs which will increase professional awareness and enhance medical care of those affected by Turner syndrome. Early diagnosis and comprehensive treatments over the lifespan will lead to a bright and healthy future for all young girls and women with Turner syndrome.

Last Updated: 14 Jan 2013

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Turner Syndrome Society of the United States

The TSSUS creates awareness, promotes research, and provides support for all persons touched by Turner syndrome. Our programs include patient support, support of TS research, nationwide conferences and events, chapters and support groups and awareness initiatives. Our vision is to "Crush ignorance of TS by 2018", with the intention of decreasing the age of diagnosis of those with TS from age 15 to pre-school age. Our Society was formed in 1987 by four women with TS and now includes parents, spouses, people worldwide and professionals. Over 30 countries have a TS Society.

Last Updated: 27 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Turner syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 30 Oct 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 2013

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Turner Syndrome Foundation, Inc.

The goal of the Turner Syndrome Foundation (TSF) is to support research initiatives and develop programs which will increase professional awareness and enhance medical care of those affected by Turner syndrome. Early diagnosis and comprehensive treatments over the lifespan will lead to a bright and healthy future for all young girls and women with Turner syndrome.

http://www.turnersyndromefoundation.org

Last Updated: 14 Jan 2013

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Turner Syndrome Society of the United States

The TSSUS creates awareness, promotes research, and provides support for all persons touched by Turner syndrome. Our programs include patient support, support of TS research, nationwide conferences and events, chapters and support groups and awareness initiatives. Our vision is to "Crush ignorance of TS by 2018", with the intention of decreasing the age of diagnosis of those with TS from age 15 to pre-school age. Our Society was formed in 1987 by four women with TS and now includes parents, spouses, people worldwide and professionals. Over 30 countries have a TS Society.

http://www.turnersyndrome.org

Last Updated: 27 Nov 2012

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General Resources

Turner Syndrome: The Importance of Early Diagnosis

This video demonstrates the importance of early diagnosis in Turner Syndrome patients as expressed by Dr. Henry Anhalt, DO and mother and daughter, Shaz and Sarah Kramer.

Updated 15 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Turner syndrome" returned 228 free, full-text research articles on human participants. First 3 results:

Kawasaki disease in a girl with Turner syndrome: a remarkable association.
 

Author(s): Stefano Stagi, Stefania Losi, Francesco Chiarelli, Maurizio de Martino, Fernanda Falcini

Journal:

 

We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years. Given the possible relationship between these two disorders, ...

Last Updated: 7 Mar 2014

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Endocrine autoimmunity in Turner syndrome.
 

Author(s): Armando Grossi, Antonino Crinò, Rosa Luciano, Antonietta Lombardo, Marco Cappa, Alessandra Fierabracci

Journal:

 

Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence ...

Last Updated: 27 Jan 2014

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Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.
 

Author(s): Chiara Castronovo, Raffaella Rossetti, Daniela Rusconi, Maria P Recalcati, Chiara Cacciatore, Elena Beccaria, Valeria Calcaterra, Pietro Invernizzi, Daniela Larizza, Palma Finelli, Luca Persani

Journal: Hum. Reprod.. 2014 Feb;29(2):368-79.

 

What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)?

Last Updated: 21 Jan 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Turner syndrome" returned 30 free, full-text review articles on human participants. First 3 results:

Precocious puberty in Turner Syndrome: report of a case and review of the literature.
 

Author(s): Nicola Improda, Martina Rezzuto, Sara Alfano, Giancarlo Parenti, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno

Journal:

 

Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous ...

Last Updated: 29 Oct 2012

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Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.
 

Author(s): Quincy Zhong, Lawrence C Layman

Journal: Fertil. Steril.. 2012 Oct;98(4):775-9.

 

Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of ...

Last Updated: 1 Oct 2012

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The patient with Turner syndrome: puberty and medical management concerns.
 

Author(s): Luisa Gonzalez, Selma Feldman Witchel

Journal: Fertil. Steril.. 2012 Oct;98(4):780-6.

 

Turner syndrome (TS), which affects approximately 1 in 2,500 live-born females, is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short ...

Last Updated: 1 Oct 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Turner Syndrome Prenatal Diagnosis Study
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 14 Aug 2012

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Risk of Diabetes in Young Turner Syndrome Patients
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 10 Jun 2014

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Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 23 May 2013

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