OBJECTIVE
On the basis of retrospective and prospective analysis to identify and describe the phenotypic symptom complex in patients of reproductive age with vaginal and uterine aplasia, both at the systemic and tissue levels
MATERIAL AND METHODS
436 patients (main group) with aplasia of the uterus and vagina were examined, the average age was 20—24 years in 67.2% of cases, in 31.2% of cases — up to 19 years inclusive. The 1st subgroup included 364 patients with aplasia of the vagina and uterus and non-functioning rudiments, the 2nd subgroup — 42 patients with aplasia of the vagina and uterus and functioning rudiments, and the 3rd subgroup — 30 patients with the testicular feminization syndrome. The control group included 47 patients of reproductive age without genital malformations who underwent surgical treatment for other gynecological diseases. Anamnesis, results of general clinical, standard laboratory and instrumental examinations, genetic (karyotypic) studies, volumes of surgical interventions, results of immuno-histochemical studies of endometrial glands and stroma and myometrium of functioning uterine rudiments were analyzed.
RESULTS
Patients with Meyer—Rokitansky—Kuster—Hauser syndrome have a high stigma threshold. Malformations of the urinary system can reach 37.4% depending on the severity of the genital malformation and the associated functional disorders — 45—56%, pathology of the musculoskeletal system — 16.7%, congenital bone deformities and defects — 1.3—5.7%, dysfunctional disorders of the gastrointestinal tract due to anatomical changes — 15—16%, eye pathology — 8.3%, minor heart anomalies — 9%, etc. In patients with testicular feminization syndrome the leading manifestation of embryogenesis and early postnatal disorders is a high frequency of hernias — 22.7% which can be explained by receptor-tissue changes in embryogenesis. Functioning rudiments of the uterus can undergo the same pathological processes as the normal uterus (fibroids, endometriosis). The main volume of surgical intervention in patients with uterine and vaginal aplasia is colpopoiesis from the pelvic peritoneum. Patients with testicular feminization syndrome should be screened for karyotype in the presence of inguinal hernias. All girls with a history of inguinal hernias should be examined for karyotype.
CONCLUSION
The phenotypic symptom complex of patients with vaginal and uterine aplasia indicates mesodermal dysmorphopathy in embryogenesis to a greater extent than connective tissue dysplasia syndrome. Patients with 46XX karyotype with uterine and vaginal aplasia and non-functioning uterine rudiments have a more pronounced dysmorphoplastic phenotype compared with patients with uterine and vaginal aplasia and functioning uterine rudiments. In patients with aplasia of the uterus and vagina in the presence of functioning rudiments, compared with patients with “pure” aplasia of the uterus and vagina (without functioning rudiments), functional disorders of the cardiovascular, digestive and urinary systems are more pronounced, which is explained by the prevalence of dysregulatory pathology. For patients with testicular feminization, dysmorphopathic and dysregulatory changes are not characteristic, and a high percentage of inguinal hernias are explained by receptor disorders at the tissue level in early embryogenesis.