Congenital Abnormality
ambiguous genitalia
[ am-big-yoo-uhs jen-i-tey-lee-uh, -teyl-yuh ]
Definitions related to ambiguous genitalia:
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(atypical genitalia) External genitalia that are neither typically male nor typically female in appearance.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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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.NCI ThesaurusU.S. National Cancer Institute, 2021
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Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex.Mayo Foundation for Medical Education and Research
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