Mayer–Rokitansky–Küster–Hauser syndrome: A case report

Abstract

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital disorder that occurs during fetal development. MRKH is characterized by the absence of the uterus and an underdeveloped vagina. In addition, although a woman has a female phenotype and functional ovaries, she does not experience menstrual cycles. We report a rare case of an 18-year-old female who had never experienced menstrual cycles since she attained thelarche and growth of pubic hair by age 13. In assessment and investigations, it was confirmed that the patient had no uterus and the vagina was poorly developed. However, she had normal functional ovaries and no abnormalities were detected in other systems. The multidisciplinary team provided counseling regarding the nature of the abnormality, its implications for sexual life, infertility, and the possible alternatives to manage the anomaly. Colovaginoplasty was opted and the patient was managed successfully. Three years later, the patient was married and she reported having a satisfactory sexual intercourse. Primary amenorrhea in a young woman with well-developed secondary sexual characteristics and functional ovaries is a suspicion of MRKH syndrome. Confirmatory investigations should be conducted. Colovaginoplasty provides a satisfactory sexual life for the patient.