Publication:

Mayer-Rokitansky-Küster-Hauser syndrome type II: a case report and literature review

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a genetic disease consisting of absent uterus and upper part of vagina, and is seen in women with a normal karyotype (46, XX). It is one of the rare diseases where the estimated prevalence is 1:5000. Most patients present with primary amenorrhea at a young age, with or without bone or kidney abnormalities. The associated psychological aspects of this disease often enforce the need for a prompt diagnosis and treatment. The preferred method for preoperative evaluation of these patients is magnetic resonance imaging (MRI).