title: Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis.
abstract: Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus. Here, we report an infant with ambiguous genitalia due to MGD. Despite marked evidence of prenatal androgen exposure, there was a completely intact distal vagina.
authors.affiliation: Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 702 Barnhill Drive, Room 5960, Indianapolis, IN 46202, USA. smonnier@iupui.edu
authors.forename: Susanne M
authors.initials: SM
authors.lastname: Cabrera
authors.forename: Rudy
authors.initials: R
authors.lastname: Alvarez
authors.forename: Martin N
authors.initials: MN
authors.lastname: Kaefer
authors.forename: Erica A
authors.initials: EA
authors.lastname: Eugster
authors.forename: Todd D
authors.initials: TD
authors.lastname: Nebesio
mesh_terms: D012734:Disorders of Sex Development / Q000473:pathology*; D005260:Female; D005837:Genitalia, Male; D006060:Gonadal Dysgenesis, Mixed / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D014566:Urogenital System / Q000473:pathology*; D014621:Vagina; D014770:Virilism / Q000473:pathology