Ambiguous genitalia

Common Name(s)

Ambiguous genitalia

Ambiguous genitalia is a rare condition where a baby is born with genitalia (sexual organs) that are not clearly male or female. About 1 in 4,500 babies is born with ambiguous genitalia, which is usually diagnosed by a doctor at birth. With ambiguous genitalia, the baby's sexual organs may not be fully developed and the baby may have characteristics of both sexes, or the internal sexual organs might not match the external sexual organs. Ambiguous genitalia may be caused by abnormal amounts of hormones (important chemicals) during development. The steps for managing ambiguous genitalia depend on the family's choice, but it is important to have genetic testing to determine whether or not the condition is caused by mutations to certain genes or missing or extra chromosomes. In some cases, surgery to correct ambiguous genitalia or hormone medication may be used, but these options are not for everyone. Most children with ambiguous genitalia are otherwise completely healthy. Talk with your baby's doctor as well as genetic and other specialists to determine the best care plan for your child. Connecting with other families affected by ambigous genitalia may also be helpful.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ambiguous genitalia" 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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ambiguous genitalia" 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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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 "Ambiguous genitalia" returned 35 free, full-text research articles on human participants. First 3 results:

A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia.
 

Author(s): Dharshana Tharanga Kulathilake, Champa Jayasundara

Journal:

 

Swyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea ...

Last Updated: 8 Dec 2015

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Callo: The first known case of ambiguous genitalia to be surgically repaired in the history of Medicine, described by Diodorus Siculus.
 

Author(s): Georgios K Markantes, Efthimios Deligeoroglou, Anastasia K Armeni, Vasiliki Vasileiou, Christina Damoulari, Angelina Mandrapilia, Fotini Kosmopoulou, Varvara Keramisanou, Danai Georgakopoulou, George Creatsas, Neoklis A Georgopoulos

Journal: Hormones (Athens). ;14(3):459-61.

 

Last Updated: 3 Aug 2015

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[Sex assignment in intersex children: a brief analysis of "ambiguous genitalia" cases].
 

Author(s): Anibal Guimarães, Heloísa Helena Barboza

Journal: Cad Saude Publica. 2014 Oct;30(10):2177-86.

 

This article takes an ethical approach to briefly analyze current therapeutic guidelines in Brazil for cases diagnosed as "ambiguous genitalia" (one of the "disorders of sexual development", DSD) in intersex children. Except when there is clear risk to the infant's life, there is ...

Last Updated: 12 Nov 2014

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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 "Ambiguous genitalia" returned 4 free, full-text review articles on human participants. First 3 results:

[Children born with ambiguous genitalia].
 

Author(s): Trond H Diseth

Journal: Tidsskr. Nor. Laegeforen.. 2008 Feb;128(5):576-80.

 

For 10 - 12 children born with ambiguous genitalia in Norway annually, the sex cannot be decided directly after birth. The condition is now termed "Disorders of Sex Development" (DSD). Severely undervirilised chromosomal and gonadal boys (46,XY DSD) represent the greatest challenge; ...

Last Updated: 3 Mar 2008

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Anogenital malformation with ambiguous genitalia as part of the OEIS complex.
 

Author(s): I Witters, J Deprest, C Van Hole, M Hanssens, H Devlieger, J P Fryns

Journal: Ultrasound Obstet Gynecol. 2004 Dec;24(7):797-8.

 

Last Updated: 13 Dec 2004

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Possible determinants of sexual identity: how to make the least bad choice in children with ambiguous genitalia.
 

Author(s): P D E Mouriquand

Journal: BJU Int.. 2004 May;93 Suppl 3():1-2.

 

Last Updated: 16 Apr 2004

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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

There are currently no open clinical trials for this condition.