Vaginal agenesis in association with gonadal dysgenesis

Two cases of gonadal dysgenesis and congenital absence of the vagina are presented. One of the 2 patients studied had a normal female karyotype, an absent vagina, and a uterus represented by 2 thin fibrous bands ending just beneath the urinary bladder in the midline. The other patient had features of Turner syndrome, a 45,X chromosomal complement, and an absent vagina with infantile uterus and fallopian tubes. As gonadal anomalies may coexist in patients with congenital absence of the vagina, laparoscopic evaluation of such patients may be of diagnostic value.