Mayer Rokitansky Küster Hauser Syndrome and Endometriosis (MRKH): A case report

Abstract

Introduction: MRKH is a rare congenital malformation that affects about 1:4500 female newborns. Its cause is unknown, but the reproductive abnormalities are due to lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. This syndrome is characterized by complete or partial vaginal agenesis, tubal, and uterine-cervical abnormalities. In clinical presentation, the disease typically presents itself as primary amenorrhea in an adolescent who has secondary sexual characteristics compatible with their age and may be accompanied by cyclic dysmenorrhea when a rudimentary uterus with functional endometrium is present. Case Report: This case report describes follow-up appointments and outcomes of a young female patient who looked for gynecological care at The Getúlio Vargas University Hospital. She presented primary amenorrhea with normal development of secondary sexual characteristics. Within the diagnostic investigation it was demonstrated that there was MRKH and endometriosis occurrence. This specific patient had progressive cyclic pelvic pain that didn’t respond to conservator treatment. Therefore, laparoscopic hysterectomy was performed. Conclusion: Diagnosis is most often based on a clinical suspicion associated with a detailed physical and gynecological examination. The anatomical treatment of the syndrome is surgical. The frequent association of this disease with somatic and psychosocial disorders requires a multidisciplinary therapeutic.