bubble_chart Overview

This disease is caused by disturbances during embryonic development due to internal or external factors, or possibly by abnormal development of the paramesonephric ducts resulting from gene mutations (which may have a family history). The most common presentation is Rokitansky-Küstner-Hauser syndrome, characterized by a normal female karyotype, overall growth and development of female secondary sexual characteristics, normal external genitalia, absence of a vagina, underdeveloped uterus (with only bicornuate remnants), small fallopian tubes, and normal ovarian development and function. Testicular feminization (androgen insensitivity syndrome) is less common. A very small number of cases involve true hermaphroditism or gonadal dysgenesis.

bubble_chart Clinical Manifestations

In the vast majority of patients with congenital vaginal atresia, there is only a completely occluded vestibular membrane at the normal vaginal opening, with no trace of a vagina. Some patients may have a shallow depression in the vestibular area, while a few may have a blind vaginal pouch shorter than 3 cm. This condition is often accompanied by uterine anomalies, where only grade I thickened band-like tissue is observed in the normal uterine position, located between the broad ligaments. About 1 in 10 patients may have partial uterine development with a functional endometrium. After puberty, due to the retention of menstrual blood, they may experience cyclic abdominal pain, absence of menstruation, or may only be diagnosed upon examination due to dyspareunia after marriage.

bubble_chart Diagnosis

The vast majority of congenital vaginal atresia patients present with only a completely obstructed vestibular membrane at the normal vaginal opening, with no trace of a vagina. Some patients may have a shallow depression in the vestibular area, while a few may have a blind vaginal pouch shorter than 3 cm. This condition is often accompanied by uterine malformations, where only grade I thickened band-like tissue is observed in the normal uterine position, located between the broad ligaments. Approximately one in ten patients may have partial uterine body development with a functional endometrium. After puberty, due to menstrual blood retention, they experience cyclical abdominal pain, absence of menstruation, or are diagnosed only after seeking medical examination for dyspareunia following marriage.

bubble_chart Treatment Measures

The principle for managing congenital absence of the vagina is to reconstruct the vagina. There are various methods for artificial vagina formation, including non-surgical therapy, which involves the use of pressure to gradually push the obstructed vestibular membrane at the normal vaginal location cephalad along the vaginal axis to create an artificial cavity. This method requires a long treatment duration and results in a short artificial vagina. If tissue elasticity is poor, success is difficult to achieve, and this approach has largely been abandoned and is rarely used. Surgical therapy primarily involves separating the space between the urethra, bladder, and rectum to form an artificial canal, using different methods to find an appropriate covering for the cavity surface to reconstruct the vagina. In the past, the most commonly used method was the transplantation of the patient's own medium-thickness free skin graft, but postoperatively, a rigid vaginal mold must be used for an extended period to dilate the artificial vagina and prevent contraction of the cavity covered by the graft, causing significant pain and inconvenience to the patient's work and daily life. Moreover, the substantial difference in tissue characteristics between skin and mucous membrane makes this method physiologically unsuitable, which is its major drawback. Using labial skin flaps for vaginal formation disrupts the normal vulvar morphology and is often rejected by patients. Using sigmoid colon or ileal segments for reconstruction increases surgical complexity. Using amniotic membrane or pelvic peritoneum as coverage also has its own disadvantages. Therefore, although there are many methods, there is still no ideal formation surgery to date, and the choice should primarily be based on the patient's local vulvar anatomy and other specific clinical conditions. In recent years, with advancements in microsurgery, vascularized myocutaneous flaps have been used to cover the cavity, opening new avenues for this procedure, though their advantages and disadvantages require further evaluation after widespread adoption to draw conclusions.

In cases of severe paramesonephric duct developmental abnormalities, renal malrotation, low-lying kidneys, or pelvic kidneys often occur, leading to conditions such as pelvic kidney, horseshoe kidney, crossed renal ectopia (both kidneys located on the same side of the body), renal agenesis, or renal insufficiency. Literature reports indicate that renal malformations account for over 30% of cases in RKH syndrome. Therefore, when performing vaginal formation surgery for congenital absence of the vagina, intravenous pyelography should always be conducted preoperatively to detect the presence of such malformations and avoid surgical injury. Additionally, approximately 10% of patients with this condition also present with skeletal malformations, such as spina bifida, sacral spina bifida occulta, vertebral fusion, and unsegmented spine.