先天性无阴道系胚胎在发育期间受到内在或外界因素阻扰，亦可能由于基因突变(可能有家庭史)引起副中肾管发育异常所致。Congenital non-vaginal-line embryos are obstructed by internal or external factors during development, which may also be caused by abnormal development of the accessory middle renal tube caused by a genetic mutation (which may have a family history).
With normal female chromosome karyotype, the whole body growth and the development of female secondary sexual characteristics were normal, vulva was normal, vagina was absent, uterine development (only double horn remnant), fallopian tube was small, ovary development and function were normal. Patients with rokitansky-kustner-hauser syndrome, which is often characterized by rokitansky-kustner-hauser syndrome, are the most common. Testicular feminization (androgen insensitivity syndrome) is rare. Very few are true sex hermaphroditism or gonadal hypoplasia.