Congenital aplasia of the uterus and vagina

August 12, 2017 17:51 | Genetic Diseases

Congenital aplasia of the uterus and vagina (Rokitanskogo- Klostnera syndrome) - a rare disease that develops in women with a normal set of chromosomes (karyotype 46, the XX-th) is still in the early stages of fetal development.Individuals with this disease have a normal female body type.A characteristic feature of the syndrome is the absence of menstruation with timely and the normal development of female secondary sexual characteristics and external genitalia.However, the vagina may be missing completely or be a shortened blind sac.The changes can range from complete absence of the uterus in the internal genitals and the fallopian tubes to the presence of one or two uterine horns with thin tubes underdeveloped.The ovaries have a normal structure and quite adequately perform their functions, as evidenced by correct and timely development of female secondary sexual characteristics, breast and typical for a healthy woman changes in temperature in the rectum, which occurs when changing the phase of the m

enstrual cycle.

In the study of blood serum no hormonal disorders in women can not be detected.Gynecological examination allows to establish the absence of the vagina and uterus.Sometimes the disease is first detected at the emergency appeals of women in connection with severe perineal tears, bladder or rectum during intercourse attempt.

uterine and vaginal aplasia should be distinguished from testicular feminization syndrome (Morris).In both cases, people have a well-formed female phenotype and go to the doctor with complaints about the absence of menstruation.On examination, they reveal the absence of the uterus and vagina.However, the full form of testicular feminization syndrome in humans there is no body hair in the genital area, and if there is an incomplete form of the normal structure of the female external genitalia.Identification of the male set of chromosomes (46, XY) and the detection of the testes in the inguinal canal, bags or hernia of the abdominal cavity under special survey methods definitively confirm the testicular feminization syndrome.

Treatment aplasia of the uterus and the vagina is carried out by carrying out plastic surgery in order to form an artificial vagina.The syndrome Asherman (formation of adhesions inside the uterus after suffering inflammation, intrauterine operations and transferred suppurative endometritis) as well as in the syndrome Rokitansky-Kyustnera not detected any hormonal disorders, indicating a violation of ovarian function or damage of the central regulation of the menstrual mechanismscycle.The disease is a typical example of gynecologic pathology leading to the absence of menstruation at a normal level of female sex hormones in the blood serum.Treatment of Asherman's syndrome is carried out surgically and is formed dissection of adhesions.