Mayer-Rokitansky-Küster-Hauser Syndrome with Rare Findings of Crossed Fused Renal ectopia and Ovarian Serous Cystadenoma

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome occurs in one of 4,000 to 5,000 female births and is characterized by normal development of secondary sexual, congenital aplasia of uterus and upper part (2/3) of vagina, and normal fallopian tubes and ovaries. Therefore, individuals with MRKH syndrome are at normal risk of developing ovarian neoplasms. We report a case of 19 years old unmarried female who was admitted to the hospital with pain in lower abdomen for 7 months. She was having primary amenorrhea. Gynecological examination revealed a blind vaginal pouch. Rectal examination revealed a large left-sided 8 cm cystic mass which was mobile with a smooth surface. Uterus was not palpable. Phenotypic sex was female. Breast development, axillar and pubic hair development were normal. Abdominopelvic ultrasonography showed left-sided crossed fused renal ectopia and a heterogeneous hypoechoic cystic mass with dense internal echoes on left-side. Uterus was not visualized. Intravenous pyelography also confirmed the finding of left-sided crossed fused renal ectopia. At laparotomy, a 10 × 8 cm cystic hemorrhagic ovarian mass with a single twist of pedicle was found, with a normal right ovary and bilateral tubes. A small hypoplastic unicornuate uterus was present. Cervix was absent. Left-sided Salpingo-oophorectomy was done and tissue was sent for histopathology, which revealed ovarian serous cyst adenoma. All patients with vaginal agenesis must be regarded primarily as a MRKH syndrome and they must be investigated to establish whether there were any associated congenital anomalies.