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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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.
 

Author(s): Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon, Arupa Ganguly, Charles A Stanley

Journal: Horm Res Paediatr. 2018 ;89(6):413-422.

 

Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome.

Last Updated: 31 Dec 1969

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A Synopsis of Current Practice in the Diagnosis and Management of Patients with Turner Syndrome in Turkey: A Survey of 18 Pediatric Endocrinology Centers
 

Author(s): Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz,

Journal: J Clin Res Pediatr Endocrinol. 2018 07;10(3):230-238.

 

A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey.

Last Updated: 31 Dec 1969

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Eldecalcitol increases bone mass in patients with Turner syndrome who have insufficient bone mass acquisition after estrogen replacement therapy.
 

Author(s): Taku Tsuburai, Tomomi Nakamura, Hiromi Yoshikata, Etsuko Miyagi, Hideya Sakakibara

Journal: Endocr. J.. 2018 Jun;65(6):629-638.

 

Most patients with Turner syndrome (TS) exhibit amenorrhea due to premature ovarian failure. Therefore, estrogen replacement therapy (ERT) is required; however, even after undergoing ERT, it is not rare for bone mass acquisition to be insufficient. This study was conducted in two ...

Last Updated: 31 Dec 1969

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

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review.
 

Author(s): Ji Yeon Shin, Bo Hyun Kim, Young Keum Kim, Tae Hwa Kim, Eun Heui Kim, Min Jin Lee, Jong Ho Kim, Yun Kyung Jeon, Sang Soo Kim, In Joo Kim

Journal:

 

Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. ...

Last Updated: 31 Dec 1969

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Atypical phenotypic aspects of autoimmune thyroid disorders in young patients with Turner syndrome.
 

Author(s): Tommaso Aversa, Romina Gallizzi, Giuseppina Salzano, Giuseppina Zirilli, Filippo De Luca, Mariella Valenzise

Journal:

 

Aim of this commentary is to analyze the current views about the phenotypic features of Hashimoto's thyroiditis (HT) and Graves' disease (GD) in Turner syndrome (TS) girls, in terms of epidemiology, clinical and biochemical presentation, long-term course and metamorphic autoimmunity ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

UTHealth Turner Syndrome Research Registry
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 30 Sep 2018

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Effect of Turner Syndrome on Number Sense
 

Status: Not yet recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 4 Sep 2018

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A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 10 Dec 2017

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