Etiology of congenital absence of vagina

Congenital absence of vagina is often accompanied by absence of uterus or only rudimentary uterus, occasionally with functional uterus, usually normal development of fallopian tubes and ovaries, so the secondary sexual characteristics are normal female performance, called Mayer Rokitanskyl Kuster Hauser syndrome referred to as MRKH. Its incidence rate is 1/5000 to 1/4000. According to the latest statistics in my country, there are about 130,000 to 160,000 such patients, and most of them are distributed in rural areas, so they are often unknown.

Congenital absence of vagina is caused by the stagnation of the tail end of the paramesonephric duct during embryonic development and its failure to extend downward. Therefore, it is often accompanied by incomplete or no uterine development, but the ovaries generally develop normally. It is often difficult to detect in the prepubertal period and is diagnosed when the adolescent visits the doctor due to primary amenorrhea or dyspareunia.

The etiology of congenital absence of vagina mainly includes the following aspects:

(1) Chromosomal abnormalities;

(2) Androgen insensitivity syndrome;

(3) The mother used male hormones, anticancer drugs, etc. in early pregnancy;

(4) Infection with certain viruses or Toxoplasma in early pregnancy.