What is congenital absence of vagina?

Congenital absence of vagina or vaginal atresia is a congenital malformation, which is the result of incomplete development of the paramesonephric duct during embryogenesis and requires vaginal reconstruction. During human embryonic development, both males and females have two pairs of longitudinal ducts, the mesonephric duct and the paramesonephric duct. The longitudinal part of the head section of the paramesonephric duct evolves into the fallopian tube; the transverse part of the middle section evolves into the uterine fundus and body; the longitudinal part of the tail section evolves into the cervix and upper vagina.

Congenital absence of vaginal system embryos are hindered by internal or external factors during development, or may be caused by abnormal development of the paramesonephric duct due to gene mutation (may have family history). Among them, the most common syndrome patients are those with normal female chromosome karyotype, normal whole body growth and female secondary sexual characteristics, normal vulva, vaginal absence, uterine development (only two horns remain), small fallopian tubes, and normal ovarian development and function. Testicular feminization patients are relatively rare, and very few are true hermaphroditism or gonadal dysgenesis.

Most patients with congenital absence of vagina only have completely closed vaginal vestibule mucosa at the normal vaginal opening, with no vaginal traces. Some patients also have shallow depressions in the vaginal vestibule, and some have blind vaginas shorter than 3 cm. It is often accompanied by no deformity, and only slightly thickened strip-like tissue can be seen in the normal uterus, located in the middle of the broad ligament. About 1/10 patients may have partial uterine body development and functional endometrium. After puberty, due to menstrual blood retention, periodic abdominal pain occurs, no menstruation, or it is not discovered until after marriage when they go to the doctor for examination due to sexual intercourse difficulties.