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

Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion.
 

Author(s): Shagufta Parveen, M M Panicker, Pawan Kumar Gupta

Journal: Stem Cell Res. 2017 Mar;19():12-16.

 

A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome ...

Last Updated: 17 Apr 2017

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Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.
 

Author(s): Agnieszka Frelich, Jakub Frelich, Wacław Jeż, Tomasz Irzyniec

Journal: Endokrynol Pol. 2017 ;68(1):47-52.

 

A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic ...

Last Updated: 9 Nov 2016

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Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
 

Author(s): Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone

Journal: Horm Res Paediatr. 2016 ;86(5):330-336.

 

We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on ...

Last Updated: 26 Oct 2016

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

A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey.
 

Author(s): Zehra Yavaş Abalı, Feyza Darendeliler, Olcay Neyzi

Journal: J Clin Res Pediatr Endocrinol. 2016 12;8(4):490-495.

 

Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short ...

Last Updated: 29 Jun 2016

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Epigenetic Dysfunction in Turner Syndrome Immune Cells.
 

Author(s): Bradly J Thrasher, Lee Kyung Hong, Jason K Whitmire, Maureen A Su

Journal: Curr Allergy Asthma Rep. 2016 May;16(5):36.

 

Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also ...

Last Updated: 4 Apr 2016

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Reproductive Issues in Women with Turner Syndrome.
 

Author(s): Lisal J Folsom, John S Fuqua

Journal: Endocrinol. Metab. Clin. North Am.. 2015 Dec;44(4):723-37.

 

Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in ...

Last Updated: 16 Nov 2015

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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

Risk of Diabetes in Young Turner Syndrome Patients
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 25 Sep 2015

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Social Cognition and Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 7 Oct 2016

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Development a Predictive Nomogram for Primary Ovarian Insufficiency
 

Status: Not yet recruiting

Condition Summary: Primary Ovarian Insufficiency

 

Last Updated: 8 Jun 2016

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