Genital Malformations

What are Genital Malformations?

Congenital malformations of the external and internal genitalia make up 1 to 4% of cases of gynecological diseases in children and adolescents. About a third of defects are associated with obstruction of the vagina and cervix. Congenital obstruction of the vagina and cervix refers to aplasia (the absence of part or the entire organ) or atresia (septum less than 2 cm long), which prevents the outflow of menstrual blood and further sexual life. With a hole in the septum, a fistulous form of atresia is diagnosed.

Obstruction of the vagina and cervix becomes a consequence of exposure to genetic, endocrine, exogenous factors and is associated with impaired embryogenesis. Normally, the proximal Muller ducts do not merge and form the fallopian tubes, and the distal Muller ducts merge, forming the uterus and the proximal part of the vagina. The distal part of the vagina is formed as a result of complex interactions between the caudal part of the merged Mueller ducts, the urogenital sinus and cesspool. Depending on which area such merging and sewerage has not occurred, this or that malformation develops. Anomalies in the development of the reproductive system are often accompanied by malformations of the urinary tract.

Pathogenesis during Genital Malformations

Classification of obstruction of the vagina and cervix

  • Atresia hymen.
  • Vaginal atresia (full, fistulous):
    – proximal;
    – distal.
  • Vaginal aplasia:
    – upper department;
    – middle department;
    – middle and lower sections;
    – upper and middle sections;
    – total.
  • Cervical obstruction.
    – Atresia of the cervical canal (total or external pharynx).
    – Aplasia of the cervix (entire or vaginal part).
  • Vaginal obstruction in combination with pathology of the lower urinary tract.

Symptoms of Genital Malformations

The clinic of congenital obstruction of the vagina and cervix manifests itself, as a rule, with the onset of menstruation and the formation of a hematocolpos or hematometers. Very rarely, defects are diagnosed before puberty due to the lack of complaints in young girls. However, in infants, as a result of stimulation of the vaginal and cervical glands by maternal estrogens, vaginal filling and stretching with mucus is possible with the formation of mucocolpos (fluorocolos). Mucokolpos does not have characteristic symptoms, is difficult to diagnose and is detected by chance when examining a child about anxiety, usually associated with urination, volumetric formation of the abdominal cavity or associated malformations. With significant stretching of the vagina, obstruction and hydronephrotic transformation of the upper urinary tract are possible. In adolescence, obstruction of the vagina and cervix leads to blood stretching of the genital tract with acute, cyclically repeated abdominal pain, with which girls often end up in surgical clinics. With hematokolpos, the pain is aching, and the hematometer manifests itself as spastic pain, sometimes with loss of consciousness.

Fistulous (incomplete) forms of vaginal atresia in both early and adolescence are often accompanied by ascending infection and pyocolposis. Clinically, the fistulous form of atresia with pyocolpos is manifested by periodic purulent discharge, which is difficult to determine the cause. Pyokolpos, in communication with the external environment, is usually not accompanied by a pronounced worsening of the condition, fever, expansion of the uterine cavity and cervical canal. Non-draining pyokolpos is rarely isolated. As a rule, pyometra, pyosalpinx and pus reflux into the abdominal cavity quickly develop. Then the clinic of “acute abdomen” is growing, the general condition of the patient is deteriorating, the temperature reaches febrile values. An ascending infection sometimes develops so quickly that even an emergency colpotomy does not save patients from peritonitis and hysterectomy.

Diagnosis of Genital Malformations

Diagnosing simple variants of the defect is not difficult. A standard examination for suspected obstruction of the vagina and cervix, in addition to general clinical and laboratory tests, includes taking an anamnesis, assessing physical and sexual development, examining the external genital organs, bacteriological and bacterioscopic examination of the discharge from the genital tract, rectal-abdominal examination, vaginal probing, ultrasound reproductive and urinary systems. As a rule, these studies are enough to accurately determine the type of defect and choose the method of surgical intervention.

With an objective examination, the vestibule of the vagina and hymen look normal. Even with total aplasia of the vagina, its vestibule is preserved. Only with atresia of the hymen its appearance differs from the usual. When pressing on the anterior abdominal wall above the bosom, the hymen swells in the form of a cyanotic dome.

Bacteriological and bacterioscopic examination of secretions from the genital tract provide significant information mainly with fistulous atresia of the vagina, when purulent discharge serves as an indirect diagnostic sign, and the test results are necessary for rational antibacterial therapy.

A rounded elastic, slightly painful and sedentary formation palpable during rectal-abdominal examination, pushing the uterus up, is usually a hematocolpos. Pressure on the hematocolpos through the rectum is transmitted to the uterus and is felt upon palpation above the womb. The displacement of the hematokolpos is limited, how does it differ, for example, from an ovarian cyst, with similar localization, consistency and shape.

Vaginal probing is aimed at determining the depth of the lower part of the vagina and is carried out simultaneously with rectal-abdominal examination. The distance from the top of the dome of the vagina to the bottom of the hematokolpos allows you to accurately determine the diastasis between the sections of the vagina, to assess the reserves of plastic material and outline the plan of operation. The distal part of the vagina is often represented by a single vestibule and has a depth of about 1-2 cm. Less often, the depression beyond the hymen is less than 1 cm.

Ultrasound examination (ultrasound) of the internal genitalia documentarily confirms the correct interpretation of clinical data. The study is carried out with a full bladder with a sensor located above the womb and in the perineum. Along the way, examine the organs of the abdominal cavity and retroperitoneal space. Ultrasound allows you to reliably determine the size of the uterus and its cavity, the thickness of the endometrium, the size and thickness of the walls of the hematocolpos, the distance from its bottom to the skin of the perineum. At the same time, the reliability of ultrasound is quite high only in the diagnosis of the simplest forms of defect – low vaginal atresia without doubling of organs. In all doubtful cases – if the medical history, clinical picture and examination results do not match, the ultrasound data should be checked by other methods – endoscopy, magnetic resonance imaging (MRI). In some cases, laparoscopy and vaginography are most informative.

In the diagnosis of complex or atypical malformations of the vagina, magnetic resonance imaging should be preferred. Special preparation for MRI is not required. The study is carried out in the patient’s position on the back in the frontal, sagittal and axial projections. With atresia and aplasia of the vagina, the sagittal projection is most informative for clarifying the anatomical structure, which allows you to accurately determine the amount of diastasis between the vaginal regions, the sizes of the hematometers and hematocolpos, to assess the condition of the cervix. However, with a doubling of the vagina and uterus, sagittal sections do not make it easy to reconstruct the anatomical relationships of the organs. In the case of a doubling of the genital tract, a study in the frontal projection is more informative. In the recognition of many complex abnormalities of the internal genital organs, MRI represents the most valuable information that determines the choice of surgical intervention.

Ultrasound and MRI data for a fistulous form of vaginal obstruction may vary depending on the time of the study and the degree of filling of the vagina with contents. Emptying usually occurs during rectal-abdominal examination. Pyokolpos can be emptied spontaneously against the background of anti-inflammatory therapy. Erroneous interpretation of MRI data is possible with an “empty” vagina.

In the diagnosis of an “empty” vagina with fistulous forms of atresia, vaginography is more informative than ultrasound and MRI. Before the advent of ultrasound and MRI, vaginography was the only study of the vaginal cavity above the level of obstruction. However, vaginography is associated with a high risk of infection of the proximal vagina with closed hematocolpos. Currently, vaginography is advisable to use only with the fistulous form of vaginal atresia as a documenting study.

Endoscopic examinations of the lower urinary tract (sinus-urethrocystoscopy), as well as urodinam and urinary studies, are indicated for children with combined urogenital pathology (iatrogenic damage to the urethra, persistent urogenital sinus, cloacal abnormalities).

Thus, clarification of the anatomy of a malformation, necessary for the choice of surgical tactics, is possible only with a comprehensive examination, including x-ray and endoscopic methods. MRI remains the most informative clinical method for examining the pelvic organs.

Diagnostic difficulties with obstruction of the vagina and cervix are confirmed by the high frequency and variety of diagnostic errors made by both gynecologists and doctors of other specialties.

The initial stage of diagnosis for congenital obstruction of the vagina and cervix almost always causes difficulty and rarely ends with the establishment of a correct diagnosis. The disease often manifests itself very unexpectedly, begins with acute abdominal pain, urinary retention or the appearance of a tumor-like formation in the abdominal cavity, which often cause urgent laparotomy.

Many adolescent girls with congenital vaginal obstruction first undergo appendectomy for suspected acute appendicitis and only then are they given the correct diagnosis. This is due to sharp abdominal pain, which often leaves the surgeon with no doubt about the need for emergency surgery. Ultrasound allows you to avoid unjustified appendectomies.

Incorrect diagnosis of mucocolpos in infants can lead to serious consequences. Suspicion of a tumor or cyst of the abdominal cavity provokes the surgeon to perform a wide laparotomy with removal of the upper vagina.

Acute urinary retention or an admixture of pus in the urine (pyuria), which occurs with fistulous pyocolpos, requires a urological examination. A child can become a “traveler” in urological hospitals for a long time.

Often there are errors with a complete doubling of the uterus and aplasia or atresia of one half of the doubled vagina. It is most difficult to determine the second closed vagina when there are two kidneys, since a complete doubling of the uterus and an additional closed rudimentary vagina are accompanied by agenesis of one kidney.

Due to acute pain in the lower abdomen with obstruction of the vagina, the hematocolpos is often opened and its contents evacuated. Such an intervention, especially with high hematokolpos, is associated with a significant risk of damage to the urethra, bladder and rectum and can lead to the development of pyokolpos, pyometra and peritonitis. There is no emergency indication for emptying the hematocolpos. Female genital tracts have great adaptive capabilities, and analgesic therapy (baralgin, maxigan) is enough to weaken or relieve pain. Surgical interventions can only be performed by specialists, preferably in patients in the intermenstrual period.

Treatment of Genital Malformations

With atresia of the hymen, surgical treatment is indicated under general anesthesia – a traditional cruciform hymen dissection. After evacuation of the contents of the hematokolpos for the purpose of hemostasis, a tampon is inserted into the vagina, which is removed after 1 day. In the future, it is recommended that the vagina be washed with 3% hydrogen peroxide solution or antiseptics for 7-10 days.

Surgical treatment of congenital obstruction of the vagina and cervix is ​​a serious task, it requires the use of local tissues and allows normal patency of the vagina with all types of abnormalities without the use of intestinal, peritoneal and skin colpopoiesis. Reconstruction of the vagina is designed to create conditions for an unhindered outflow of menstrual flow, to ensure the possibility of a normal sex life, the onset and gestation of pregnancy. Restoring patency of the vagina and cervix, preserving the existing anatomical formations and reconstructing the missing sections of the vagina make up the meaning and objectives of the treatment.

Having discovered the obstruction of the vagina, the doctor does not always have to immediately “get to work.” If the lack of plastic material is obvious – the small size of the hematokolpos, the large diastasis between the existing sections of the vagina, surgical treatment should be postponed and the possibilities of attracting additional plastic resources should be weighed. It is better to compensate for tissue deficiency by artificial stretching of the lower part of the vagina, which means an increase in the size of the hematocolpos during subsequent periods. The distal vagina is stretched with Geghar expanders No. 19-24 using estrogen-containing ointments that improve the plastic properties of the tissues of the external genital organs and vagina for 2-4 menstrual cycles.

Vaginal plastic surgery is performed according to the principles of plastic surgery using paraboloidal flaps with a wide feeding base, atraumatic inert material, carefully handling tissues. Aplasia of the middle and lower parts of the vagina are the most difficult form of malformation for surgical treatment.

Surgical interventions in patients with cervical obstruction are performed according to similar principles. A good exposure of the cervix is ​​achieved by using posterosagittal pararectal access. Anastomoses of the cervix with the vagina are formed using flaps and partial dissection of the cervical canal to form an extended connection line.

When doubling the uterus and vagina, one of which is a closed vestigial rumen, excision of the intravaginal septum is required. During the operation, it is necessary to strive for its maximum excision.

Efficiency and forecast. The complex of diagnostic and surgical treatment methods allows achieving normal patency and vaginal volume in all cases of anomalies.