Medicogenetic features and surgical treatment of patients with congenital malformations of the uterus and vagina.

Abstract

Objective: To analyze clinical examination, surgical treatment, main features of the surgical plan, and course of the early postoperative period and immediate results of surgery in 624 patients with various malformations of the uterus and vagina.

Methods: General clinical examination: endoscopic methods, including hysteroscopy and laparoscopy, cytogenetic and genealogic investigation, estimation of biochemical markers (serum levels) of patients with Müllerian anomalies (polymorphous and monomorphous loci).

Results: Karyotype examination revealed that 90.7% of 86 patients examined had normal 46XX karyotype, while sex chromosome mosaicism was present in 9.3% of cases. Genealogic analyses have shown that 39.8% of probands' relatives had reproductive system disorders. Genetic analysis of genealogical trees of patients with malformations of uterus and vagina revealed the recessive type of inheritance. Utilization of up-to-date procedures (hysteroscopy, resectoscopy, laparoscopy) facilitates performing the operations for genital malformations, provides reduction of operation time and postoperative hospital stay, and considerably increases the efficacy of surgical treatment.

Conclusions: Factors of heredity play an important role in etiology of congenital malformation of the uterus and vagina. Modern endoscopic procedures can be successfully used in differential diagnosis of genital malformations, as well as during surgical treatment.