Magnetic Resonance Imaging and Clinical Features in Mayer-Rokitansky-Kuster-Hauser Syndrome

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare syndrome that results from the disruption of the embryonic Mullerian duct development, accompanied with genital and renal malformations. Patients are characterized by partial or complete uterine aplasia with aplasia or hypoplasia of upper 2/3 of the vagina. The aim of this case report is to discuss effectiveness of magnetic resonance imaging and possible treatment options in a 24-year-old patient who was admitted to our clinic complaining primary amenorrhea and diagnosed with MRKH type II syndrome. Accurate diagnosis and evaluation of accompanying other system anomalies are quite important in MRKH syndrome in terms of treatment methods and assisted reproductive techniques.

The Role of Imaging in Mayer-Rokitansky-Küster-Hauser Syndrome: A Report of Two Cases and Literature Review

“…Ultrasound scan may demonstrate the absence of the uterine tissue between the urinary bladder and rectum. The lack of utero-ovarian ligaments or incomplete ovarian descent in patients with MRKH syndrome may result in high pelvic location of the ovaries making sonographic detection difficult [5][6][7]. In one of our cases, the right ovary was observed above the normal location.…”

“…The aetiology of this syndrome is unknown but genetic predisposition with an autosomal dominant mode of inheritance has been identified [1,2]. Karl Mayer (1829) and Von Rokitansky (1838) described the syndrome as uterovaginal agenesis due to abnormal development of uterine ducts [3,5,6]. Hermann Küster (1910) identified the urological associations and G. A. Hauser (1961) distinguished MRKH females from testicular feminisation [3,5].…”