Vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) is a rare congenital anomaly characterized by the primary absence of the uterus and 2/3 of the upper parts of the vagina. With vaginal agenesis, the normal development of the external genitals, ovaries and the severity of secondary sexual characteristics are preserved, there are no chromosomal abnormalities (there is a female karyotype 46XX). It is characterized by primary amenorrhea, often combined with defects of other systems. It is diagnosed during gynecological examination (examination, ultrasound, MRI, laparoscopy). The treatment of vaginal agenesis is surgical, it boils down to the creation of a neovagina – an artificial vaginal tube.
The incidence of vaginal agenesis is 1 in 4500-5000 cases of newborn girls. Both sporadic and familial forms of the anomaly are recorded. Modern gynecology distinguishes the isolated vaginal agenesis, characterized only by aplasia of the uterus and vagina, as well as a type of defect combined with congenital anomalies of the spine, kidneys, heart, etc. organs.
The first mention of the malformation of the uterus and vagina dates back to the beginning of the XIX century, when the German scientist Mayer described vaginal agenesis, combined with multiple developmental anomalies. Later, Rokitansky and Kuester noticed that with this syndrome there is also no uterus, but the ovaries are preserved and functioning normally. Later, Hauser discovered a frequent combination of uterine and vaginal aplasia with malformations of the kidneys and skeleton.
The conditionality of the development of vaginal agenesis remains largely unclear. In the occurrence of sporadic cases of vaginal agenesis, a violation of embryogenesis plays a role, namely, the development of the Muller ducts, which are the precursors of the female genital organs. These disorders can be provoked by insufficient production of biologically active substance MIS in the cells of the embryo, teratogenic factors (gestational diabetes, chemical agents), defects in the formation of mesenchyma, etc.
Episodes of this disease are inherited by an autosomal dominant type of transmission with incomplete penetrance and gene expressiveness. Mayer-Rokitansky-Küster-Hauser syndrome in gynecology is diagnosed in women with primary amenorrhea in 20% of cases.
The main complaint with which girls aged 15-16 come to a gynecologist’s consultation is the lack of menstruation. Older patients are usually concerned about the inability to have sex. In some cases, the Rokitansky-Kustner syndrome is detected as a result of an emergency treatment of a woman due to severe perineal ruptures during an attempt at sexual intercourse.
Persons with this pathology are built according to the female type, have normally developed external genitals and secondary sexual characteristics. In vaginal agenesis, the vagina is either completely absent or is defined as a shortened blind sac. Underdevelopment of the internal genitalia may be manifested by the presence of a rudimentary uterus in the form of a small string or two horns with thin defective fallopian tubes or their complete absence. At the same time, the ovaries have normal architectonics and fully function.
In 40% of women, disease is combined with skeletal anomalies and defects of the urinary system – horseshoe kidney, kidney dystopia, kidney aplasia, doubling of the ureters. Patients with vaginal agenesis are infertile.
A general examination reveals the correct physique, compliance of physical and sexual development with age norms. During gynecological examination on the chair, the normal development of external genitalia, female-type hair loss is determined. Examination of the vagina with a probe reveals a shortened and blindly ending vagina 1-1.5 cm long behind the hymen. Rectal-abdominal examination allows you to palpate the heaviness in the place of the typical location of the uterus and the absence of appendages.
The graph of BT measurement in the rectum corresponds to the change of phases of the menstrual cycle and confirms the normal functioning of the ovaries. Indicators of the level of gonadotropins and steroids in plasma correspond to the norm. Conducting a transabdominal ultrasound or MRI of the pelvic organs certifies the presence of vaginal agenesis. Ultrasound of the kidneys often reveals abnormalities of the urinary tract. Sometimes diagnostic laparoscopy is resorted to to clarify the degree of aplasia before colpopoiesis. Vaginal agenesis is differentiated with vaginal and uterine atresia in testicular feminization syndrome (male karyotype 46-XY).
/The only way to treat is the plastic formation of the neovaginal colpopoiesis from the pelvic peritoneum or sigmoid colon. Augmentation and dilatation of the vestigial vagina (colpoelongation) is possible only with its sufficient length – 2-4 cm. The purpose of interventions is to eliminate obstacles to normal sexual life.
In most cases, laparoscopic colpopoiesis with rotation of a fragment of the sigmoid colon on its own mesentery is performed in reconstructive and reconstructive intimate plastic surgery. An artificial vagina formed from intestinal tissues does not require additional hydration, which has a positive effect on the quality of sexual life.
Neovaginal tissues after surgery undergo some morphofunctional changes, expressed in sclerosis, atrophy and dysplasia of the intestinal mucosa. In order to prevent sclerosis and stenosis of the lumen of the artificial vagina, it is necessary to conduct regular sexual activity or periodic bougie.
Laparoscopic colpopoiesis has advantages over open intervention, allowing to achieve the best aesthetic results. If it is impossible to perform colpopoiesis from the sigmoid colon (insufficient mesentery length), the pelvic peritoneum, transverse colon or small intestine are used for neovaginal plasty.
With vaginal agenesis, only a palliative treatment option is possible, which is aimed at adapting the patient to a normal sexual life while maintaining amenorrhea. After vaginal plastic surgery, sexual function is normalized. The birth of genetic children from women with this disease can only be achieved using in vitro fertilization and surrogacy.