title: Gonadal dysgenesis with a difference.
abstract: We report here an exceptional clinical finding of a 46,XY phenotypic female with complete gonadal dysgenesis, but who was found unexpectedly to have absence of the uterus and posterior vagina. Extensive review of current and past literature failed to confirm other reports of this variant form of complete gonadal dysgenesis.
authors.affiliation: University of Tasmania Medical School, Hobart, Australia.
authors.forename: Theresa
authors.initials: T
authors.lastname: Naidoo
authors.forename: Yuen
authors.initials: Y
authors.lastname: Chan
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Jayasinghe
authors.forename: Paddy
authors.initials: P
authors.lastname: Moore
authors.forename: John
authors.initials: J
authors.lastname: Hutson
authors.forename: Garry
authors.initials: G
authors.lastname: Warne
mesh_terms: D000568:Amenorrhea / Q000209:etiology*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D010053:Ovary / Q000002:abnormalities* / Q000473:pathology; D010388:Pelvis / Q000000981:diagnostic imaging; D010808:Physical Examination; D012727:Sex Characteristics; D014463:Ultrasonography; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*