Diagnosis of vaginal and uterine malformations

Step-by-step diagnostics of vaginal and uterine malformations includes a thorough medical history, gynecological examination (vaginoscopy and rectoabdominal examination), ultrasound and MRI of the pelvic organs and kidneys, endoscopic methods.

Anamnesis

Diagnosis of uterine and vaginal malformations presents significant difficulties. According to research data, inadequate surgical treatment before admission to a specialized hospital is performed in 37% of girls with genital malformations with impaired menstrual blood outflow, and unjustified operations or conservative treatment - in every fourth patient with aplasia of the vagina and uterus. Insufficient knowledge of doctors of this pathology leads to the fact that, based on the clinical picture and gynecological examination in case of duplication of the uterus and vagina with partial aplasia of one of them, erroneous diagnoses are often made - Gardner's duct cyst, paraurethral cyst, paravaginal cyst, retroperitoneal formation, vaginal tumor, cervical tumor, ovarian cystoma, recurrent nonspecific vulvovaginitis, ovarian dysfunction, acute appendicitis, "acute abdomen", etc. Among the unjustified surgical interventions, the most common are: dissection of the "atretic" hymen, puncture and drainage of hematocolpos, probing of the vaginal "stricture", diagnostic laparotomy. In the best case, laparoscopy, puncture of the hematometra, an attempt at metroplasty, removal of the uterine appendages or tubectomy, appendectomy, an attempt to remove a "non-functioning" kidney, resection of the ovaries are performed.

Physical examination

In case of vaginal and uterine aplasia, the structure of the external genitalia in female patients has its own characteristics. The external opening of the urethra is often widened and shifted downwards (it can be mistaken for an opening in the hymen).

The vestibule of the vagina can be represented by several structural variants and have the following appearance:

• smoothed surface from the urethra to the rectum;
• hymen without deepening into the perineum;
• hymen with an opening through which a blind-ending vagina 1-3 cm long is determined;
• capacious, blind-ending canal in sexually active patients (as a result of natural colpoelongation).

Rectoabdominal examination shows the absence of the uterus in the pelvic cavity. In patients with asthenic physique, one or two muscle ridges can be palpated.

Atresia of the hymen is diagnosed in some cases in infant girls by a bulging of the perineum in the area of the hymen as a result of the formation of mucocolpos. However, clinical symptoms mainly appear in puberty. During a gynecological examination, a bulging of the imperforate hymen and the translucence of dark contents are visualized. During a rectoabdominal examination, a formation of a hard (or soft) elastic consistency is determined in the pelvic cavity, at the top of which a denser formation is palpated - the uterus.

In patients with complete or incomplete vaginal aplasia with a functioning rudimentary uterus, a gynecological examination reveals the absence of a vagina or the presence of only its lower part over a short distance. A rectoabdominal examination reveals a slightly mobile spherical formation in the small pelvis, sensitive to palpation and attempts at displacement (uterus). The cervix is not determined. Retort-shaped formations (hematosalpinx) are often palpated in the area of the appendages.

In girls with vaginal aplasia and a fully functioning uterus, a rectoabdominal examination at a distance of 2-8 cm from the anus (depending on the level of vaginal aplasia) reveals a formation of a hard-elastic consistency (hematocolpos), which may extend beyond the small pelvis and be determined by palpation of the abdomen. Moreover, the lower the level of the aplastic part of the vagina, the larger the hematocolpos can be, but at the same time, as noted above, hematometra occurs later, and, therefore, the pain syndrome is less pronounced. At its apex, a denser formation (uterus) is palpated, which may be enlarged in size (hematometra). In the area of the appendages, retort-shaped formations (hematosalpinx) are sometimes determined.

In case of rudimentary closed horn of the uterus, one vagina and one cervix are visually determined, however, during rectoabdominal examination, a small painful formation is palpated near the uterus, increasing during menstruation, on its side - hematosalpinx. A distinctive feature of this defect is renal aplasia on the side of the closed vagina in all patients.

During vaginoscopy in patients with uterine duplication and aplasia of one of the vaginas, one vagina, one cervix, and a protrusion of the lateral or upper lateral wall of the vagina are visualized. If the protrusion is large, the cervix may be inaccessible for examination. During a rectoabdominal examination, a tumor-like formation of a hard-elastic consistency, immobile, slightly painful, is detected in the small pelvis, the lower pole of which is 2-6 cm above the anus (depending on the level of vaginal aplasia), the upper pole sometimes reaches the umbilical region. It is noted that the lower the level of aplasia of one of the vaginas (determined by the lower pole of hematocolpos), the less pronounced the pain syndrome. This is due to the greater capacity of the vagina with aplasia of its lower third, its later overstretching and the formation of hematometra and hematosalpinx.

Laboratory research

Laboratory tests are of little use in identifying malformations of the uterus and vagina, but are necessary to clarify background conditions and diseases, in particular the state of the urinary system.

Instrumental research methods

During ultrasound examination of patients with complete aplasia of the vagina and uterus, the uterus is not detected in the pelvis or one or two muscular ridges (2.5 x 1.5 x 2.5 cm) are seen; the ovaries are usually of the age norm in size and are located high near the walls of the pelvis.

In case of vaginal aplasia and rudimentary functioning uterus, the cervix and vagina are absent on the echogram, hematosalpinxes are determined, and in patients with a full-fledged uterus - an echographic picture of hematocolpos and, quite often, hematometra, which look like echo-negative formations filling the pelvic cavity.

A rudimentary horn is visualized on an echogram as a rounded formation adjacent to the uterus with a heterogeneous internal structure. However, with this defect, ultrasound does not always allow for a correct interpretation of the echographic picture, assessing it as an intrauterine septum, bicornuate uterus, ovarian cyst torsion, nodular adenomyosis, etc. MRI and hysteroscopy have a high diagnostic value in this situation, since only one opening of the fallopian tube is visualized in the uterine cavity.

MRI is a modern, safe, highly informative, non-invasive and non-radiation method for diagnosing vaginal and uterine defects. It allows you to determine the type of defect with an accuracy approaching 100%.

Despite its high diagnostic value, CT is accompanied by radiation exposure to the body, which is extremely undesirable during puberty.

The final stage of diagnostics is laparoscopy, which plays not only a diagnostic but also a therapeutic role.

Differential diagnostics of malformations of the vagina and uterus

Differential diagnostics of complete aplasia of the vagina and uterus should be carried out with various variants of delayed sexual development, primarily of ovarian genesis (gonadal dysgenesis, testicular feminization syndrome). It should be remembered that patients with aplasia of the vagina and uterus are characterized by the presence of a normal female karyotype (46.XX) and the level of sex chromatin, female phenotype (normal development of the mammary glands, hairiness and development of the external genitalia according to the female type).

Differential diagnostics of defects associated with impaired outflow of menstrual blood should be carried out with adenomyosis (endometriosis of the uterus), functional dysmenorrhea and acute inflammatory process of the pelvic organs.

Pathology of the kidneys and urinary system requires consultation with a urologist or nephrologist.

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