Congenital aplasia of the uterus and vagina

Congenital aplasia of the uterus and vagina ( Rokitansky-Klostner syndrome) is a rare disease that develops in women with a normal set of chromosomes( karyotype 46, XX) even at an early stage of intrauterine development. Individuals with this disease have a normal female body type. A characteristic feature of the syndrome is the absence of menstruation with the timely and normal development of secondary female sexual characteristics and external genitalia. However, the vagina may be absent completely or be a shortened blind sac. Changes in the internal genitalia can fluctuate from complete absence of the uterus and fallopian tubes to the presence of one or two uterine horns with thin underdeveloped tubes. Ovaries have a normal structure and quite adequately perform their functions, which is confirmed by the correct and timely development of female secondary sexual characteristics, mammary glands and temperature changes in the rectum, typical for a healthy woman, which occurs when the phases of the menstrual cycle change.

In the study of serum, no hormonal imbalance in the woman is found. Gynecologic examination allows to establish the absence of the vagina and uterus. Sometimes the disease is first diagnosed in emergency treatment of women due to severe ruptures of the perineum, bladder or rectum when trying to have sexual intercourse.

Aplasia of the uterus and vagina should be distinguished from the testicular feminization syndrome( Morris).In both cases, people have a well-formed female phenotype and consult a doctor complaining of no menstruation. When examined, they reveal the absence of the uterus and vagina. However, with the full form of the testicular feminization syndrome, there is no hair in the genital area in humans, and in case of incomplete form a normal female genitalia of the external genitalia is observed. The identification of the male chromosome set( 46, XY) and the detection of testicles in the inguinal canals, hernial sacs or abdominal cavity with definitive examination methods finally confirm the testicular feminization syndrome.

Treatment of for uterine and vaginal aplasia is performed by the method of plastic surgery for the purpose of forming an artificial vagina. In Asherman's syndrome( the formation of adhesions inside the uterus after the inflammatory process, intrauterine operations and purulent endometritis) as well as in the Rokytansky-Kyustner syndrome, there are no hormonal abnormalities that indicate an abnormal ovarian function or damage to the central mechanisms of regulation of the menstrual periodcycle. This disease is a typical example of gynecological pathology, leading to the absence of menstruation at a normal level of female sex hormones in the blood serum. The treatment of Asherman's syndrome is performed surgically and consists in dissection of the formed adhesions.