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| CASE REPORT |
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| Year : 2014 | Volume
: 3
| Issue : 3 | Page : 168-170 |
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Mayer-Rokitansky-Kuster-Hauser syndrome presenting as rectovaginal fistula
Mohamed Daffalla A Gismalla1, Awad Ali Mohamed Ahmed Alawad2
1 Department of Surgery, Faculty of Medicine, University of Gezira, Gezira, Sudan, Sudan
2 Department of Surgery, University of Medical Sciences and Technology, Khartoum, Sudan
| Date of Web Publication | 7-Oct-2014 |
Correspondence Address:
Awad Ali Mohamed Ahmed Alawad
Department of Surgery, Faculty of Medicine, University of Medical Sciences and Technology, Khartoum
Sudan
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2278-0521.142334
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a Müllerian abnormality, characterized by the absence of the vagina, associated with abnormal or absent uterus and the presence of apparently normal tubes and ovaries. Physical growth development and secondary sexual characters as well as the external genitalia are also normal. These patients usually present with primary amenorrhea. Here we report a case of 20-year-old woman with primary amenorrhea due to Müllerian agenesis presented with rectovaginal fistula following coital injury. To the best of our knowledge, this is the first case reported in the literature with this rare presentation. Keywords: Coital injury, müllerian agenesis, rectovaginal fistula
How to cite this article:
Gismalla MA, Alawad AA. Mayer-Rokitansky-Kuster-Hauser syndrome presenting as rectovaginal fistula. Saudi J Health Sci 2014;3:168-70 |
| Introduction | |  |
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by vaginal aplasia associated with other Müllerian duct abnormalities. [1] The severity of the anomaly varies, as does the number of involved organs. The prevalence is one in 5000 women. [2] In type I MRKH syndrome, there is an isolated absence of the proximal two-thirds of the vagina. In type II MRKH syndrome, there are associated malformations including vertebral, cardiac, urological (upper tract), and otological anomalies. [1] The extent of vaginal aplasia varies in both types, ranging from a virtually absent vagina to a short vagina measuring 2-5 cm in length (normal range, 8-12 cm). [3] Patients have normal development of secondary sexual characteristics, and MRKH syndrome is usually undetected until the patient is referred for investigation of primary amenorrhea. This syndrome is important because it is the second most common cause of primary amenorrhea, after gonadal pathology. [4] The psychological consequences are severe, even if the anatomical defects can be surgically treated. Surgery allows patients to achieve normal sexual function and even assisted reproduction.
| Case report | | |
A 20-year-old married, Sudanese female presented with leakage of flatus and feces per vaginam of two months duration. She first noticed vaginal bleeding immediately after having sexual intercourse with her husband, which was her third coital experience with him. The bleeding was mild and subsided spontaneously at home. About a week later, she started passing flatus and feces per vagina. She did not have dyspareunia, abnormal vaginal bleeding or discharge, abnormal rectal bleeding or discharge, constipation, and urinary incontinence in the past. She reported that when she was 15 years old, she asked for medical advice because of primary amenorrhea. The patient was offered laparoscopy but she declined the procedure.
On examination, the patient's secondary sexual characteristics were found to be normal. There was no abnormality detected on abdominal examination. Vaginal and rectal examination revealed a communication between the vagina and rectum. The vaginal defect was about 1 cm × 1 cm in the posterior vaginal wall noted about 2 cm above the introitus, extending up to rectum [Figure 1]. Vaginal examination showed normal vulva and urethral meatus, but a short (4 cm) blind-ended vagina [Figure 1]. The anal sphincter was intact and normal. | Figure 1: Showed blind ended vagina with 1 x 1 cm defect extending upto rectum admits tip of artery forceps
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On investigation, hemogram, renal function, electrolyte, and liver function were within normal limits. Pelvic ultrasound imaging demonstrated agenesis of the uterus and the presence of a tubular structure. There was difficulty visualizing the ovaries. Therefore, a pelvic magnetic resonance imaging (MRI) examination was conducted to integrate the US findings. The sagittal view demonstrated hypoplastic uterus and absence of upper vagina [Figure 2]. The coronal images confirmed the presence of normal ovaries and absence of vagina between the rectum and bladder [Figure 3]. The visualized portions of the kidneys were unremarkable. No other abnormalities were identified. Moreover, she underwent an intravenous urography that was negative for any anomalies. A chromosomal study performed on the patient was of a normal karyotype of 46 XX. | Figure 2: Saggital view MRI pelvis showing hypoplastic uterus and absence of the upper part of the vagina
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 | Figure 3: Coronal image showing the presence of normal ovaries (white arrows)
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These findings were compatible with type 1 MRKH syndrome. Diagnosis of low rectovaginal fistula was made. She had transvaginal two-layer repair after bowel prepartion was done. The procedure was successful and she became continent of flatus and feces. The findings and implications regarding potential fertility and childbearing were explained to the patient. An interdisciplinary management in a specialized center was planned.
| Discussion | | |
Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is characterized by Müllerian duct structures agenesis, vaginal atresia, rudimentary or absent uterus with normal ovaries and Fallopian tube More Detailss in females normal from a genetic (46 XX), phenotypic, and developmental features. [4] Our patient is phenotypically and genotypically female and this observation is in agreement with other reports.
The syndrome was first described by Mayer in 1829. [5] Initial description consisted of various vaginal anomalies such as duplications due to abnormal development of the Müllerian ducts. Later in 1838, Rokitansky described uterine and vaginal agenesis. Kuster recognized renal abnormalities, such as renal ectopy or agenesis as well as skeletal abnormalities in 1910. [6] Hauser distinguished MRKH from testicular feminization in 1961. [7]
The diagnosis of MRKHS can usually be made without the need for a laparoscopy. Ultrasound (US) is the first method of choice for the diagnosis. In the majority of patients, US findings lead to the correct diagnosis. MRI examination adds more information about uterovaginal anatomy and associated anomalies and may help in planning of the surgery. [8]
Treatment consists of the creation of a neovagina via surgical and nonsurgical methods. Noninvasive technologies are based on the formation of a neovagina by vaginal dilators (Frank's Technology). [9] The most used surgical techniques are: Sigmoid neovaginoplasty, which uses a segment of sigmoid colon as a neovagine, and the Vecchietti operation, which is based on creating a neovagine by using a traction-dilatation system, formed by retroperitoneal sutures connected to an acrylic-made olive placed in the vaginal rudiment and to a traction system placed on the abdominal wall. [10] Both techniques mentioned above can be performed through laparoscopy; thus, reducing associated morbidity and hospital stay compared to open surgery. Patient cooperation and psychological maturity are key factors for the success of the treatment, which should begin when the patient starts engaging in sexual intercourse and has reached emotional maturity.
Although there are many different causes of rectovaginal fistula (RVF), obstetric trauma is the most common. [8] RVF due to coital injury is rare. We conducted a search through Medline, Pubmed, focusing mainly on the incidence of rectovaginal fistula (RVF) in patients with MRKH syndrome (without specifying language) from 1966 through May 2013 using the combination search words (Mayer-Rokitansky-Kuster-Hauser syndrome or Müllerian agenesis or vaginal atresia or Rokitansky syndrome) and (rectovaginal fistula) each time. No study addressed RVF in patients with MRKH syndrome.
| References | | |
| 1. | Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: Recommendations for clinical diagnosis and staging. Hum Reprod 2006;21:792-7. 
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| 2. | Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina)-phenotypic manifestations and genetic approaches. J Negat Results Biomed 2006;5:1.
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| 3. | Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis 2007;2:13.
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| 4. | Pizzo A, Lagana AS, Sturlese E, Retto G, Retto A, De Dominici R, et al. Mayer-rokitansky-kuster-hauser syndrome: Embryology, genetics and clinical and surgical treatment. ISRN Obstet Gynecol 2013;2013:628717.
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| 5. | Mermerkaya M, Burgu B, Hamidi N, Yuksel S, Ozcakar ZB, Sertcelik A, et al. Mayer-Rokitansky-Kuster-Hauser syndrome accompanied by renal cell carcinoma: A case report. J Pediatr Hematol Oncol 2013;35:e309-10.
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| 6. | Marsh CA, Will MA, Smorgick N, Quint EH, Hussain H, Smith YR. Uterine remnants and pelvic pain in females with Mayer-Rokitansky-Kuster-Hauser syndrome. J Pediatr Adolesc Gynecol 2013;26:199-202.
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| 7. | Lim YJ, Sohn TS, Kang SH, Chang KY, Kim BK, Kim YJ, et al. A case of Mayer-Rokitansky-Kuster-Hauser syndrome presenting as Graves disease. J Pediatr Endocrinol Metab 2012;25:1169-71.
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| 8. | Kara T, Acu B, Beyhan M, Gokce E. MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Diagn Interv Radiol 2013;19:227-32.
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| 9. | Lanza H, Balestrelli J, Pastoni D, Molero JF. Vaginoplasty technique using vulvoperineal flaps. Aesthetic Plast Surg 2014;38:164-8.
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| 10. | Kdous M, Chaker A, Ferchiou M, Zhioua F. The laparoscopic Vecchietti technique for vaginal agenesis. Tunis Med 2013;91:371-5.
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[Figure 1], [Figure 2], [Figure 3]
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