Atypical form of Mayer-Rokitansky-Küster-Hauser syndrome: A case report

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital disorder syndrome characterized by failure of the uterine and vaginal organs to develop normally. The prevalence of MRKH is estimated to occur in about 1 in 5000 of female live births. A 25-year-old female patient comes to a general obstetric and gynecological polyclinic with complaints of not being able to menstruate at all since birth. There is a history of vaginal discharge but it is neither viscous nor had an odor. On ultrasound examination, the structure of the uterus and ovaries was not found in a normal place. On follow up MRI examination showed agenesis of the uterus and proximal two-third of the vagina accompanied by abnormal positioning of both ovaries, thus supporting to atypical form of MRKHS. The patient is not given drug therapy, but she was planned to transplant the uterine organs. This case report suggests MRKH syndrome can be characterized by ectopic ovaries and a uterus that is not fully developed and can also be accompanied by agenesis of the vaginal organs. Pelvic ultrasound is the main modality chosen to be performed in patients with symptoms of primary amenorrhea. When pelvic organs cannot be visualized properly, it will be performed MRI examination. MRI examination is known to have sensitivity and specificity up to 100% in diagnosing MRKH syndrome. This case report describes a 25-year-old woman with primary amenorrhea with MRKH syndrome. MRI is a sensitive and specific examination to confirm the diagnosis.