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:

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.
 

Author(s): Hedvig Engberg, Anna Strandqvist, Anna Nordenström, Agnieszka Butwicka, Agneta Nordenskjöld, Angelica Lindén Hirschberg, Louise Frisén

Journal: J Psychosom Res. 2017 Oct;101():122-127.

 

Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen ...

Last Updated: 31 Dec 1969

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MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
 

Author(s): Andrea Granados, Veronica I Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H Quint, Ming Chen, Catherine E Keegan

Journal: Am J Med Genet C Semin Med Genet. 2017 06;175(2):253-259.

 

Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting ...

Last Updated: 31 Dec 1969

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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: 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 "Gonadal Dysgenesis" returned 7 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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Primary Ovarian Insufficiency: Phenotype and Optimal Treatment
 

Status: Recruiting

Condition Summary: Primary Ovarian Insufficiency

 

Last Updated: 10 Jul 2018

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Turner Syndrome Research Network Registry
 

Status: Recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 20 Mar 2018

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Effect of Turner Syndrome on Number Sense
 

Status: Not yet recruiting

Condition Summary: Turner Syndrome

 

Last Updated: 16 Apr 2018

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