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

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
 

Author(s): Ana Paula dos Santos, Juliana Gabriel Ribeiro Andrade, Cristiane Santos Cruz Piveta, Juliana de Paulo, Gil Guerra, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra

Journal:

 

Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages ...

Last Updated: 17 Jan 2014

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Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.
 

Author(s): Ameli Norling, Angelica Lindén Hirschberg, Erik Iwarsson, Bengt Persson, Anna Wedell, Michela Barbaro

Journal: Eur J Med Genet. 2013 Dec;56(12):661-8.

 

Half of all patients with a disorder of sex development (DSD) do not receive a specific molecular diagnosis. Comparative genomic hybridization (CGH) can detect copy number changes causing gene haploinsufficiency or over-expression that can lead to impaired gonadal development and ...

Last Updated: 27 Nov 2013

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46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'.
 

Author(s): Jarna Naing Hamin, Francis Raymond P Arkoncel, Frances Lina Lantion-Ang, Mark Anthony S Sandoval

Journal:

 

Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity ...

Last Updated: 5 Jun 2012

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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 2 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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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 GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Turner Syndrome Prenatal Diagnosis Study
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 14 Aug 2012

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Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Ovarian Insufficiency

 

Last Updated: 2 Aug 2013

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