Skip to search formSkip to main contentSkip to account menu

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.
2006
2006
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic… 
Highly Cited
2002
Highly Cited
2002
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Antley-Bixler syndrome (ABS) is a rare multiple anomaly syndrome comprising radiohumeral synostosis, bowed femora, fractures of… 
Review
2002
Review
2002
Genital Surgery among Females with Congenital Adrenal Hyperplasia: Changes Over the Past Five Decades
The treatment of intersex patients, including any patient born with genital ambiguity, is being reassessed. The re-evaluation is… 
Review
2002
Review
2002
Vaginal reconstruction for ambiguous genitalia and congenital absence of the vagina: a 27-year experience.
BACKGROUND/PURPOSE Gender assignment to a neonate with ambiguous genitalia is crucial. Patients with an absent vagina require the… 
2001
2001
Evidence that longer androgen receptor polyglutamine repeats are a causal factor for genital abnormalities.
Moderate to severe undermasculinized genitalia was recently shown to be associated with longer polyglutamine repeats within the… 
Highly Cited
1993
Highly Cited
1993
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with… 
Review
1991
Review
1991
THIRTEEN. Functional Morphology and Evolution of Isopod Genitalia
Isopod Crustacea are ubiquitous and have a long evolutionary history. Their success may have been aided by their mating systems… 
1982
1982
Defective activation of androgen-receptor complexes a marker of androgen insensitivity
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… 
1979
1979
Three siblings with premature gonadal failure.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)