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

[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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Ring chromosome 13 and ambiguous genitalia.
 

Author(s): Elif Ozsu, Gül Yeşiltepe Mutlu, Belkıs Ipekçi

Journal: J Clin Res Pediatr Endocrinol. 2014 ;6(2):122-4.

 

Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material ...

Last Updated: 17 Jun 2014

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Macrosomia and ambiguous genitalia: a long overdue answer to the citizens of Frusino.
 

Author(s): Vasiliki Vasileiou, Anastasia K Armeni, Apostolos L Pierris, Neoklis A Georgopoulos

Journal: Hormones (Athens). ;11(2):215-21.

 

In the literature of the Roman Era, a case of macrosomia and genital ambiguity in a newborn is described. Textual evidence concerning this case of androgynism and its symbolism is provided in the present study. Medical interpretation of such cases covers the entire spectrum of differential ...

Last Updated: 17 Jul 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 "Ambiguous genitalia" returned 3 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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Surgical management of ambiguous genitalia.
 

Author(s): L Rangecroft,

Journal: Arch. Dis. Child.. 2003 Sep;88(9):799-801.

 

The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial. Standard protocols have stressed the need for early diagnosis, gender assignment, and appropriate surgery in infancy.(1) ...

Last Updated: 25 Aug 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.