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

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
 

Author(s): Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort

Journal:

 

Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up ...

Last Updated: 1 May 2017

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A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
 

Author(s): Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li

Journal:

 

SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular ...

Last Updated: 28 Dec 2016

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Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
 

Author(s): Deepa Makhija, Hemanshi Shah, Charu Tiwari, Shalika Jayaswal, Jayesh Desale

Journal: Dev Period Med. ;20(3):178-180.

 

Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. ...

Last Updated: 12 Dec 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 "Gonadal Dysgenesis" returned 8 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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XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.
 

Author(s): M T McDonald, W Flejter, S Sheldon, M J Putzi, J L Gorski

Journal: Am. J. Med. Genet.. 1997 Dec;73(3):321-6.

 

We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9) (p21;p24)pat. A review shows ...

Last Updated: 16 Jan 1998

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency
 

Status: Recruiting

Condition Summary: Primary Ovarian Insufficiency

 

Last Updated: 8 Jun 2016

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Turner Syndrome Research Network Registry
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 12 Jun 2017

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