Gonadal dysgenesis with a difference
T Naidoo, Y Chan, Y Jayasinghe, P Moore, J Hutson, G Warne
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | WALTER DE GRUYTER GMBH | Published : 2004
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.