Mayer-Rokitansky-Küster-Hauser syndrome: clinical cases from practice

Objective: To describe rare clinical cases of congenital vaginal agenesis in sexually active women in urological practice. Materials and Methods: This retrospective study presents two clinical cases. The first is a 31-year-old patient, S., with congenital vaginal agenesis consistent with Mayer-Rokitansky-Küster-Hauser syndrome. The second is a 19-year-old patient, N., who underwent surgery to create and expand an artificial vagina from a segment of small intestine. Both patients were observed and treated at the Republican Scientific and Clinical Center of Urology. Results: In clinical practice, extremely rare cases are encountered in which, due to congenital vaginal agenesis, the urethra is used for sexual intercourse. This anatomical adaptation is accompanied by significant urological complications and requires a comprehensive medical approach, including consideration of surgical correction. In the second case, after the formation of an artificial vagina from a segment of the small intestine, dilation was performed, which ensures the achievement of the main functional effect - improving the quality of the woman's sexual life. Mayer-Rokitansky-Küster-Hauser syndrome (vaginal agenesis, Müllerian agenesis) is a rare congenital anomaly of the Müllerian ducts, characterized by aplasia of the uterus and upper two-thirds of the vagina, while the ovaries, female phenotype, and 46,XX karyotype remain normal. The incidence is 1 case per 4,000-5,000 female births, ranking it second among the most common causes of primary amenorrhea after hypogonadotropic hypogonadism. The etiology of the disease is multifactorial, but genetic factors with an autosomal dominant inheritance pattern predominate. Clinically, the syndrome manifests as primary amenorrhea in adolescents, despite normal puberty and the development of secondary sexual characteristics. The goal of treatment is to create a functional neovagina to solve the problem of absolute uterine factor infertility. Conclusion: Despite significant advances in this field, important questions remain unresolved, such as etiology and pathogenesis, long-term consequences of immunosuppression after transplantation, and optimization of psychological rehabilitation.