Anorchia

Common Name(s)

Anorchia, Anorchidism, Embryonic Testicular Regression Syndrome, Absence of the testes, congenital or acquired

The testicular regression syndrome (TRS) was delineated by {14:Sarto and Opitz (1973)}, who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes ({4:De Marchi et al., 1981}) to the anorchic phenotypic male ({5:Edman et al., 1977}). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by {13:Rosenberg et al., 1984}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anorchia" 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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Anorchidism Support Group

ASG was founded to address the need for information, help and support for families with children, as well as young persons/adults affected by absence of the testes, whether congenital or acquired.

Last Updated: 29 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anorchia" 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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Anorchidism Support Group

ASG was founded to address the need for information, help and support for families with children, as well as young persons/adults affected by absence of the testes, whether congenital or acquired.

http://www.asg4u.org/

Last Updated: 29 Apr 2014

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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 "Anorchia" returned 5 free, full-text research articles on human participants. First 3 results:

Clinical, biological and genetic analysis of anorchia in 26 boys.
 

Author(s): Raja Brauner, Mathieu Neve, Slimane Allali, Christine Trivin, Henri Lottmann, Anu Bashamboo, Ken McElreavey

Journal: PLoS ONE. 2011 ;6(8):e23292.

 

Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown.

Last Updated: 19 Aug 2011

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[Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia].
 

Author(s): Taigo Kato, Takeshi Oida, Taiyo Otoshi, Kinzo Katayama, Kenichi Kobayashi, Norihide Tei, Shingo Takada, Kiyomi Matsumiya

Journal: Hinyokika Kiyo. 2011 Jul;57(7):399-401.

 

Bilateral anorchia is defined as the complete absence of testicular tissue with a normal male karyotype and phenotype. Although the precise etiology is not well understood, mechanical causes during or after testicular descent have been suggested, while genetic factors have also been ...

Last Updated: 11 Aug 2011

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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
 

Author(s): Pascal Philibert, Delphine Zenaty, Lin Lin, Sylvie Soskin, Françoise Audran, Juliane Léger, John C Achermann, Charles Sultan

Journal: Hum. Reprod.. 2007 Dec;22(12):3255-61.

 

BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal development, steroidogenesis and reproduction. Recently, haploinsufficiency of SF1 has been described in several 46,XY individuals ...

Last Updated: 20 Nov 2007

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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 "Anorchia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.