Gonadal dysgenesis with a difference.
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.
Naidoo
Theresa
T
University of Tasmania Medical School, Hobart, Australia.
Chan
Yuen
Y
Jayasinghe
Yasmin
Y
Moore
Paddy
P
Hutson
John
J
Warne
Garry
G
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*