Case of a Girl with Primary Amenorrhea, Cyclic Pelvic Pain, and Absent Vagina

Abstract

Menstruation requires a patent outflow tract (uterine corpus, cervix and vagina). The most common cause of primary amenorrhea, after gonadal dysgenesis, is Mullerian agenesis, also referred to as Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It results from the embryologic growth failure of the Mullerian ducts with resultant agenesis of the vagina and an absent or rudimentary uterus. There are various clinical presentations of this anomaly due to varying degrees of uterine aplasia and simultaneously affected systems. Vaginal agenesis may occur in conjunction with certain disorders of 46XY sexual differentiation such as mixed gonadal dysgenesis (MGD), complete androgen insensitivity syndrome (CAIS), and partial androgen insensitivity syndrome (PAIS). When a Mullerian duct anomaly is suspected, imaging is essential for diagnosis and management and to direct reproductive counseling. Strategies for managing this condition range from nonsurgical to surgical options and really depend upon patient readiness. Women with MRKH are candidates for in vitro fertilization with a surrogate gestation carrier.