Left ovarian torsion in type 2 Mayer-Rokitansky-Küster-Hauser syndrome: a rare case report

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly of Müllerian duct development, occurring in approximately 1 in 4,500-5,000 female births, and is the second most common cause of primary amenorrhea after gonadal dysgenesis. Ovarian torsion complicating MRKH syndrome is exceptionally rare, with only a small number of cases described in the literature to date. We report the case of a 20-year-old unmarried woman with primary amenorrhea who presented with acute lower abdominal pain of three days' duration, nausea, vomiting, and a palpable abdominal mass. She was initially managed as suspected adnexal torsion or a degenerating uterine fibroid or pregnancy related complication. Ultrasonography and magnetic resonance imaging (MRI) demonstrated absence of the uterus and cervix, vaginal agenesis, right renal agenesis, and a large left ovarian cyst with a twisted vascular pedicle showing the “whirlpool sign”, consistent with Type 2 MRKH syndrome complicated by left ovarian torsion; a preoperative chest radiograph was unremarkable. Emergency exploratory laparotomy confirmed an 8×7 cm left ovarian cyst with two complete turns of torsion of the pedicle, a fibrous band, and a small rudimentary uterine remnant. Detorsion, cystectomy, ovarian reconstruction with ovarian drilling were performed while preserving of viable ovarian tissue. Histopathology confirmed a benign (serous) simple ovarian cyst, and recovery was uneventful. Ovarian torsion is a rare but important complication of MRKH syndrome that can be easily overlooked because of the syndrome's atypical pelvic anatomy. A high index of suspicion, supported by ultrasonography and MRI, together with prompt fertility- and function-preserving surgery, remains key to a favourable outcome. This case adds to the limited published literature on this association.