Gonadal Dysgenesis

Common Name(s)

Gonadal Dysgenesis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gonadal Dysgenesis" for support, advocacy or research.

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 "Gonadal Dysgenesis" for support, advocacy or research.

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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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 "Gonadal Dysgenesis" returned 81 free, full-text research articles on human participants. First 3 results:

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
 

Author(s): Ariella Weinberg-Shukron, Paul Renbaum, Rachel Kalifa, Sharon Zeligson, Ziva Ben-Neriah, Amatzia Dreifuss, Amal Abu-Rayyan, Noa Maatuk, Nilly Fardian, Dina Rekler, Moien Kanaan, Abraham O Samson, Ephrat Levy-Lahad, Offer Gerlitz, David Zangen

Journal: J. Clin. Invest.. 2015 Nov;125(11):4295-304.

 

Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ...

Last Updated: 6 Nov 2015

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An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.
 

Author(s): Gönül Çatlı, Caner Alparslan, P Şule Can, Sinem Akbay, Sefa Kelekçi, Tahir Atik, Berk Özyılmaz, Bumin N Dündar

Journal: J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):159-62.

 

46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old ...

Last Updated: 28 Aug 2015

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46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
 

Author(s): Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort

Journal: J. Clin. Endocrinol. Metab.. 2015 Jul;100(7):E1022-9.

 

46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs.

Last Updated: 8 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 "Gonadal Dysgenesis" returned 5 free, full-text review articles on human participants. First 3 results:

[Gonadal dysgenesis and tumors: genetic and clinical features].
 

Author(s): Mônica V Nunes Lipay, Bianca Bianco, Ieda T N Verreschi

Journal: Arq Bras Endocrinol Metabol. 2005 Feb;49(1):60-70.

 

Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers. Although Y-specific sequences are seldom cytogenetically evident, dysgenetic ...

Last Updated: 17 Mar 2006

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Testis-determining factor and gonadal dysgenesis.
 

Author(s): H Shima, T Kuraoka, T Hashimoto

Journal: Int. J. Urol.. 1997 Jan;4(1):3-7.

 

Last Updated: 11 Aug 1997

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A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan.
 

Author(s): N Yamakita, K Yasuda, H Mori, M Kuriyama, Y Kumamoto, K Miura

Journal: Jpn. J. Med.. ;28(6):744-52.

 

A 17-year-old patient with mixed gonadal dysgenesis (MGD) showing ambiguous genitalia and hypergonadotropic hypogonadism was described. By intraabdominal exploration, a poorly developed uterus with a fallopian tube and a streak gonad was found on the right side and a poorly developed ...

Last Updated: 31 May 1990

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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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