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.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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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: 4 May 2015

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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: 18 Jun 2015

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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.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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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: 4 May 2015

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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: 18 Jun 2015

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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 Support Organizations

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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 280 free, full-text research articles on human participants. First 3 results:

Multiple Pituitary Hormone Deficiency, Empty Sella and Ectopic Neurohypophysis in Turner Syndrome.
 

Author(s): Deep Dutta, Chitra Selvan, Satinath Mukhopadhyay

Journal: Indian Pediatr. 2015 Sep;52(9):803-4.

 

Multiple pituitary hormone deficiency and Turner syndrome have overlapping features in peripubertal girls and is a diagnostic challenge.

Last Updated: 1 Nov 2015

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Systemic lupus erythematosus in a patient with Turner syndrome.
 

Author(s): Juan Bai, Jianjun Qiao, Yinhua Wu, Zhengyan Zhao, Hong Fang

Journal: An Bras Dermatol. ;90(4):600-1.

 

Last Updated: 17 Sep 2015

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Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome.
 

Author(s): Sandrina Carvalho, Madalena Sanches, Rosário Alves, Manuela Selores

Journal: An Bras Dermatol. ;90(3):401-2.

 

Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-year old woman recently diagnosed with multiple myeloma who refers paresis, ...

Last Updated: 3 Jul 2015

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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 31 free, full-text review articles on human participants. First 3 results:

Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.
 

Author(s): K Oktay, G Bedoschi

Journal: J Pediatr Adolesc Gynecol. 2014 Dec;27(6):342-6.

 

To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments.

Last Updated: 2 Dec 2014

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Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use.
 

Author(s): T C J Sas, E J Gault, M Zeger Bardsley, L A Menke, K Freriks, R J Perry, B J Otten, S M P F de Muinck Keizer-Schrama, H Timmers, J M Wit, J L Ross, M D C Donaldson

Journal: Horm Res Paediatr. 2014 ;81(5):289-97.

 

There has been no consensus regarding the efficacy and safety of oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS), the optimal age of starting this treatment, or the optimal dose. This collaborative venture between Dutch, UK and US centers is ...

Last Updated: 28 Jul 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 25 Sep 2015

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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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