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Ambiguous Genitalia

Known as: Ambiguity, Genital, Ambiguities, Genital, Intersex genitalia 
A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.
National Institutes of Health

Related topics

Related topics

25 relations
3 beta-Hydroxysteroid dehydrogenase deficiencyABLEPHARON-MACROSTOMIA SYNDROMECraniosynostosis-Mental Retardation Syndrome of Lin and GettigDenys-Drash Syndrome

Broader (3)

Congenital AbnormalityCongenital DisordersEndocrine System Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Sexual selection and genital evolution
Male genitalia show patterns of divergent evolution, and sexual selection is recognised as being responsible for this… 
Highly Cited
2006
Highly Cited
2006
CXorf6 is a causative gene for hypospadias
46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects ∼0.5… 
Review
2002
Review
2002
Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome.
OBJECTIVES To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with… 
Review
1999
Review
1999
Atypical handedness in schizophrenia: some methodological and theoretical issues.
An updated review of the literature strongly supports the view that in schizophrenia there is an atypical leftward shift in the… 
Review
1997
Review
1997
Sex reassignment at birth. Long-term review and clinical implications.
This article is a long-term follow-up to a classic case reported in pediatric, psychiatric, and sexological literature. The penis… 
Highly Cited
1997
Highly Cited
1997
Management of Intersexuality: Guidelines for Dealing With Persons With Ambiguous Genitalia
Following the publication of our article about a classic case of sex reassignment,1the media attention was rapid and widespread,2… 
Review
1993
Review
1993
Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and… 
Highly Cited
1991
Highly Cited
1991
Multiple paternity as genetic bet-hedging in female sierra dome spiders, Linyphia litigiosa (Linyphiidae)
Review
1990
Review
1990
Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).
Highly Cited
1980
Highly Cited
1980
Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency
Partial deficiency of Δ5–3βhydroxysteroid dehydrogenase (3β-ol) was found in a 17-yr-old female with acne (onset at 8 yr), male… 
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