title: [A neonate with ambiguous genitalia].
abstract: In a neonate with ambiguous genitalia, physical examination revealed a phallus. Ultrasonography showed a vagina and uterus, but no gonads. Because of severe undervirilisation in the presence of a uterus, probably due to 46,XY gonadal dysgenesis, parents were advised female sex assignment. When after a few weeks the phallus had increased in size, abdominal laparoscopy showed an underdeveloped uterus. Gonadal biopsy confirmed gonadal dysgenesis. Sex assignment was reconsidered and changed into the male gender.
authors.affiliation: Academisch Medisch Centrum, Amsterdam.
authors.forename: Burgo J
authors.initials: BJ
authors.lastname: Jansen
authors.forename: Rick R
authors.initials: RR
authors.lastname: van Rijn
authors.forename: A S P Paul
authors.initials: AS
authors.lastname: van Trotsenburg
mesh_terms: D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014424:Turner Syndrome / Q000175:diagnosis*