Mayer-Rokitansky-Küster-Hauser Syndrome In A Young Woman

ABSTRACT Objective: To describe a case of primary amenorrhea in a young woman. Methods: We describe the case of a 19-year-old Saudi woman with type 1 diabetes for 6 years and primary hypothyroidism. She had presented to the endocrinology clinic in July 2013 with primary amenorrhea associated with cyclical abdominal pain for 4 years. Results: Our patient was finally diagnosed to have the rarest form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (V5b, C0, U0, A0, M0), as she had isolated vaginal atresia with normal uterus. Conclusion: The patient's complaints (e.g., amenorrhea, etc.) must be taken seriously, as subsequent examination, work-up, and the ultimate diagnosis depend on them. Our patient was unique in the sense that she had the rarest type of MRKH syndrome, with vaginal atresia and normally functioning uterus along with type 1 diabetes and hypothyroidism. The diagnosis of MRKH syndrome entails ethical and management challenges that should be discussed with the patient and his or her family. The patient's future marital and reproductive life is based upon such decisions. MODY = maturity-onset diabetes of the young; MRKH = Mayer-Rokitanski-Küster-Hauser