Rare case of leiomyoma and endometriosis in Mayer–Rokitansky–Kuster–Hauser Syndrome

INTRODUCTION Mayer–Rokitansky–Kuster–Hauser syndrome or Mullerian agenesis, a congenital malformation of the genital tract, is a common cause of primary amenorrhea and primary infertility.[1] Mullerian agenesis (including the absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhea.[2] It affects 1 in 5000 females. The most common presentation of Mullerian agenesis is congenital absence of the vagina, uterus, or both, which is also referred to as Mullerian aplasia or vaginal agenesis or Mayer–Rokitansky–Kuster–Hauser syndrome. It may be associated with renal, skeletal, cardiac, and auditory anomalies. The diagnosis is often made either radiologically or laparoscopically in amenorrhea women with normal hormonal tests and female karyotype. CASE REPORT A 32-year-old patient with primary amenorrhea and primary infertility presented with abdominal mass and abdominal pain predominantly in the right iliac fossa (RIF). She had treatment for her primary amenorrhea when she was 16 years old, with no further investigation after then. She got married at the age of 30. There was no complaint of difficulty during sexual intercourse. Investigations were done for primary infertility after 1 year of marriage, and diagnostic laparoscopy was offered, but the patient refused. She presented to the emergency room at Medicover Hospital, Sangamner, with complaint of severe pain in the abdomen predominantly at RIF, with complaint of primary amenorrhea. There was no bowel or bladder-associated symptoms. She is phenotypically female, with normal intelligence and average height. No hirsutism or acne was noted. Examination of the head and neck did not reveal a webbed neck or any abnormal facies. The thyroid was not enlarged. There were no gross abnormalities of the extremities such as polydactyly, syndactyly, or the absence of digits. Chest and heart examinations were normal. There was no complaint of galactorrhea. Abdominal examination revealed a regular, firm mass of a size 14 weeks uterus felt with tenderness in RIF. There were no ascites or hepatosplenomegaly. The breasts and pubic hair were in Tanner stage 4 with normal female external genitalia. Vagina examination revealed blind vaginal pouch of length 2–3 cm and cervix was not appreciated. Primary suspicion of ovarian tumor with appendicitis was considered, and she underwent ultrasonography of the abdomen and pelvis. Ultrasound sonography revealed a left ovarian mass of size 10 cm originating from the left ovary. The kidneys were normal in size and position. Magnetic resonance imaging (MRI) of the abdomen and pelvis revealed a leiomyoma and a possible torsion of an ovarian cyst [Figures 1F2-3]. Gonadotropin levels were normal. Serum level of CA-125 was 180 U/mL. Provisional diagnosis of MRKH syndrome associated with pelvic mass (leiomyoma or ovarian tumor) was made, and exploratory laparotomy was done. Intraoperatively, torsion of the right chocolate cyst of size 3 cm × 4 cm was found with a huge fibroid-like structure originating from the rudimentary uterus. The left ovary and left fallopian tube were normal. Removal of the right ovary with a chocolate cyst and the fallopian tube was done. Removal of a huge mass with the rudimentary uterus and left fallopian tube was done. Multiple endometriotic deposits were seen on the peritoneal surface, and fulguration was done. Postoperative recovery was uneventful [Figures 4F5-6]. Histopathological examination was reported as leiomyoma arising from a rudimentary uterus with an absent cervix and an endometriotic cyst. The right ovary and right fallopian tube showed hemorrhagic necrosis, possibly secondary to torsion.

MRKH syndrome is a rare disorder described as aplasia or hypoplasia of uterus and upper two-thirds of vagina due to early arrest in the development of Mullerian duct. Women with this syndrome have normal 46 XX karyotype, secondary sex characters, ovarian functions, and underdeveloped vagina.[3] Renal, skeletal, hearing, and cardiac anomalies may be associated. The presence of leiomyoma and adenomyosis in MRKH syndrome is very rare, and only a few cases have been reported in the literature. Here, we are reporting a patient of MRKH syndrome with a large leiomyoma originating from the rudimentary uterus and endometriosis with a right endometriotic cyst and numerous endometriotic deposits on the peritoneum. Leiomyomas of the uterus are estrogen-dependent tumors. Although Mullerian ducts are primarily endodermal in origin, some smooth muscle cells may exist at their proximal ends, which may be the origin of leiomyomas. However, the exact etiopathogenesis of leiomyoma from the rudimentary uterus in MRKH syndrome is not known. Parikh stated that fibroids and adenomyosis rarely develop in the rudimentary nonfunctioning uterus.[4] Uterine rudiments contain smooth muscle, which facilitates the development of estrogen-dependent diseases, such as leiomyomas and adenomyosis.[5] The differential diagnosis of pelvic masses in MRKH patients includes ovarian tumors, gastrointestinal stromal intestinal tumors, and leiomyomas arising from uterine rudiments or the urinary bladder.[6] In the literature, the diagnoses of leiomyomas in MRKH patients were based on transabdominal ultrasound or MRI and were confirmed at the time of surgery in most cases. Uterine sarcomas cannot be definitively excluded based on clinical symptoms or growth pattern, but MRI can distinguish between usual leiomyomas and extremely rare leiomyosarcomas in most cases.[7]

Common gynecological disorders may occur in MRKH patients; therefore, these patients should be followed up similarly to other women. The case we presented reveals the development of leiomyomas and endometriosis in patients with MRKH syndrome, although rare, is always a possibility and should be kept in mind as a differential diagnosis while evaluating an abdominopelvic mass. MRI is an accurate modality both for delineating the mass, confirming its origin, and diagnosing MRKH syndrome. Such masses should be thoroughly investigated and treated in a timely fashion to improve the quality of life of the patient. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Acknowledgment We would like to acknowledge the submission of our manuscript titled “Rare Case of Leiomyoma and Endometriosis in Mayer–Rokitansky–Kuster–Hauser Syndrome” to Medicover Journal of Medicine. I confirm that the manuscript is original, has not been published previously, and is not under consideration by any other publication. We look forward to your feedback and are happy to provide any additional information or clarification needed.

Endometriosis; endometriotic cyst; hypoplastic uterus; leiomyoma; Mayer–Rokitansky–Kuster–Hauser syndrome