Sigmoid vaginoplasty in Mayer-Rokitansky-Kuster-Hauser syndrome

Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina, with normal female secondary sexual characteristics and a normal karyotype (46, XX). The frequency is 1/4500–5000 female births. The aim of this study was to report the management of MRKH syndrome with sigmoid vaginoplasty. This study included 4 patients recruited over a 4-year period from February 2016 to January 2019. MRKH syndrome was retained in the presence of normal secondary sexual characteristics with normal external genitalia associated with vaginal aplasia and uterine agenesis. The approach was a laparotomy and a perineal approach under general anesthesia. The procedure involved the removal of a sigmoidal colonic graft that was anastomosed with the vaginal dimple. The average age was 23 years. All patients had consulted for primary amenorrhea, infertility, and/or difficulties in sexual intercourse. The diagnosis of MRKH type 1 was retained in all patients. The average length of the vagina was 3.25 cm before surgery and 13.63 cm after surgery. The postoperative outcomes were uneventful in 3 patients. One patient developed anastomotic stenosis that was successfully treated with vaginal dilation for 2 weeks. The average postoperative follow-up was 30 months. In the context of a low-resource setting, sigmoid transposition represents a good procedure to treat vaginal aplasia and restore a satisfactory sexual activity to patients with MRKH type 1.


Introduction
Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and upper two thirds of the vagina, with normal female secondary sexual characteristics and a normal karyotype (46, XX) [1][2][3][4]. The frequency of this anomaly is 1/ 4500-5000 female births [1][2][3][4]. There are 2 types of MRKH syndromes: type 1 represents about 44% of cases and is described as the agenesis of isolated Mullerian derivatives (isolated uterovaginal agenesis). Type 2 is associated with malformations that mainly affect the upper urinary tract, the skeleton, and the otological and cardiac spheres [1][2][3]5]. The etiology of the MRKH syndrome has not yet been clearly elucidated [2,3,6]. This pathology results from the interruption of the embryonic development of Muller's canals [2,4,7]. It would be an intermediate mesoderm lesion from which the primordia of the genitourinary tract are formed by the end of the 4th week of embryonic life [2,4]. No precise genetic origin has yet been found, although some deletions in chromosomes 22, 4, and 17 appear to be involved [2,3]. It would occur sporadically; however, the existence of familial cases has revealed an autosomal dominant mode of inheritance with variable expression (limited to female sex) and low penetrance [2,6]. Primary amenorrhea remains the main clinical manifestation [2,5]. The diagnosis of this condition is usually clinical and radiological [2,3,8]. Abdominopelvic ultrasonography and magnetic resonance imaging (MRI) can complete the assessment by showing the absence of the uterus and looking for any associated abnormalities [2,3]. Laparoscopy can be used in cases of diagnostic doubt [2].
In our context, patients with this anomaly are seen after the failure of a first or even a second marriage. The complaints are thus dominated by the non-satisfaction of the spouse during sexual intercourse and the desire for fertility. Many surgical and instrumental techniques have been developed to treat the absence of a vagina and to restore a sexual and social life to women with MRKH syndrome [3,5,9]. Currently, surgery is reserved for failures of vaginal dilation procedures that are recommended in the first instance [1,10]. The aim of this study was to report our experience on sigmoid transposition vaginoplasty in the management of MRKH syndrome.

Patients and methods
This was a retrospective study that enrolled 4 patients over a 4-year period from February 2016 to January 2019. MRKH syndrome was retained in the presence of normal secondary sexual characteristics with normal external genitalia associated with vaginal aplasia and uterine agenesis. A gynecological examination was performed in all patients. Tanner's classification was used to estimate pubertal development. Abdominopelvic ultrasound and an uroscanner confirmed the absence of the uterus and looked for other abnormalities. A vaginal opacification was performed preoperatively to objectify the length of the vaginal dimple and 1 month after surgery to detect possible fistulas. A barium enema was made preoperatively to evaluate the length of the sigmoid. All patients underwent vaginal dilation with appropriate Hégar candles for a sufficient duration without effective results. The surgical technique chosen for all patients was a sigmoid transposition that was described by Baldwin in 1904 [9]. A standard preoperative assessment was performed. Colonic preparation based on a diet without residues, and enemas were instituted 48 h before surgery. Antibiotherapy with ceftriaxone and metronidazole was instituted intraoperatively and continued 7 days after the operation.
The approach was a laparotomy and perineal approach under general anesthesia in the supine position. All patients had a bladder catheter (Fig. 1).

Abdominal time
A Pfannenstiel incision was made. An exploration of the abdominal cavity was done in search of associated anomalies and also to complete the assessment of the genital anomaly. The sigmoid loop was identified (Fig. 2a), its length and vascularity verified. The vestigial remnants are separated from the bladder base by anterior dissection, and the dissection is performed posteriorly between the anterior surface of the rectum and the vestigial remnants. This maneuver allows you to find the vaginal dimple that is sufficiently exposed. This exposure is helped by the intravaginal introduction of a Hégar candle of the appropriate caliber. A segment of the sigmoid colon of about 15 cm was then selected, sectioned at its lower and upper ends, and cleaned with saline. This graft remained pedicled to the inferior sigmoid artery (Fig. 2b). The continuity of the sigmoid colon was restored (Fig. 2b).

Vaginal time
An assistant was placed between the patient's legs to hold the Hégar candle and push back the vaginal dimple which is incised at the top (Fig. 3a).
The graft was rotated abdominally in the antiperistaltic direction. The upper end is closed with a tight continuous suture, and the lower end is anastomosed with the edges of the vaginal dimple. To avoid prolapse, the colonic graft was leaned against the anterior surface of the rectum and fixed to the pre-vertebral ligament by its upper end (Fig. 3b).
The bladder catheter is left in place for 5 days. A light diet was allowed when bowel movements resumed. A control X-ray with Hégar candles in the neovagina was performed (Fig. 4). Sexual intercourse was permitted 6 months after the procedure. The variables studied were age, marital status, tanner stages, karyotype, pre-and

Results
The average age was 23 ± 2.16 years old. All patients had consulted for primary amenorrhoea, infertility, and/or difficulties in sexual intercourse. No medical or family history was noted. No associated anomalies were found.  Table 1.

Discussion
Once the diagnosis of MRKH syndrome is discovered, it will be necessary to institute appropriate management, which takes into account both the associated abnormalities and the psychosocial component [1,9]. In fact, this pathology compromises sexual intercourse and fertility and results in intense psychological suffering in these patients who feel diminished in their femininity [1,9]. The definitive treatment of this condition depends on the age of the patient and is only considered when the patient is emotionally and sexually mature [1,8,9,11]. In this respect, the management of the syndrome must be multidisciplinary involving the surgeon, the gynecologist, the urologist, the plastic surgeon, and the psychologist. Numerous instrumental and surgical therapies have been described treating vaginal aplasia [1,3,9]. The main  objective is to restore a sexually active life by restoring a conventional vaginal size, which is usually defined by a length ≥ 6-7 cm and a sufficient diameter between 3-3.5 cm (admitting two fingers) [9][10][11][12][13].
Vaginal dilation is the method recommended on the frontline by expert committees [1,9]. This method has proven its effectiveness with a success rate ranging from 90 to 96% [1,10,13]. All patients may be candidates for vaginal dilation, even with short vaginal dimples less than 2 cm [10]. Two methods are conventionally used, dilation according to Frank or Ingram [3,9,14]. Frank was a Czech gynecologist who used waist-increasing candles to obtain a functional vagina; Ingram later improved the process by using dilator candles placed on a bicycle saddle allowing patients to adopt a more accepted and less invasive sitting position [3,9,13,14]. The success of these two methods is underpinned by a frequency of 1 to 3 dilatations of 10 to 30 min per day during 4 to 6 months [3,10]. Several factors can be sources of failure to vaginal dilatations. These include psychosocial causes (motivation, lack of family support), cognitive (misunderstanding of procedures, young age), logistics (care structure too far away, lack of suitable equipment), and anatomical (associated malformations, absence of vaginal dimples, complications) [10]. In our study, Frank's method was practiced without success. Indeed, most of our patients living in rural areas, far from urban health centers, cannot move easily for regular intra-hospital dilations. Social and cultural considerations (shame, intimacy, promiscuity, religion) also likely prevented them from performing appropriate dilations at home, following the caregivers' instructions. These vaginal dilations must be performed before considering any surgical procedure [1,3,10]. Regular sexual intercourse may be just as effective as vaginal dilatation in some cases [9,10,12,13].
Thus, in case of failure of non-surgical methods, or following the refusal of a patient, surgery should be used. A plethora of surgical techniques exist, either conventionally or laparoscopically. Dupuytren (1817) and Amussat (1835) seem to be the first authors to have proposed a correction of vaginal hypoplasia by surgical methods [9]. None of the techniques has proven to be superior to the others, and there is no consensus on an ideal intervention [3,8,9]. These different techniques can be classified into 4 groups according to their principle [9]. The first group includes all the techniques that consist of the creation of a neovagina between the bladder and the rectum (Wharton, McIndoe, Davydov) [3,9]. Vaginal plasties using intestinal segments (jejunum, ileum, colon, cecum, rectum) constitute the second group [3,9]. In third place come vulvovaginoplasties (technique of Williams modified by Creatsas) [9]. The last group includes the surgical traction of the vaginal dimple which can be considered as accelerated vaginal dilation (Vechietti, balloon) [9]. Recently, hypoplastic vaginas have been reconstructed from vulvar   biopsies of autologous tissue taken from patients, cultured in vitro, and surgically reimplanted after the necessary cellular maturation [15]. The oral mucosa has also been used to perform vaginoplasty [16].
Vaginal reconstruction using intestinal grafts was reported by Sneguireff as early as 1892 [9]. This method has emerged in recent years due to the many advantages it confers [8,9]. The ileum was first used as an alternative, then abandoned in favor of the sigmoid colon, which gave fewer complications [9,17]. Later, authors described the use of the caecum and jejunum [8,9]. Usually performed by laparotomy, sigmoid transplantation vaginoplasty is also possible by laparoscopy. The main advantage of this technique is that it produces a vaginal cavity that is not very prone to narrowing, requires less dilation, and is naturally lubricated, resulting in less dyspareunia [8,9,11,18]. Bleeding, malodorous discharge, prolapse, colitis, or even malignant degeneration into adenocarcinoma have been reported as possible incidents following colonic vaginoplasty [3,9]. We have not seen any of these complications in our patients although the main limitation of our study is the small size of our sample, explained by the rarity of the malformation. But more hindsight is needed to assess the real long-term impact, so our patients should have a longer postoperative follow-up period. In 2014, the meta-analysis by Bouman et al. [19] of 21 studies involving 894 patients confirmed that intestinal vaginoplasty was associated with few complications and highly sexual satisfaction among beneficiaries. This study did not find any of the major complications such as cancer or colitis [19]. Vaginoplasty by colonic transposition is a low-cost technique with a simple postoperative follow-up, easily achievable in developing countries [11,14] such as Niger, where the technical facilities do not allow more complex interventions.

Conclusion
Mayer-Rokitansky-Kuster-Hauser syndrome is a rare condition that causes primary amenorrhea and infertility while making vaginal intercourse difficult or impossible. This is a hindrance to a proper social life and a psychological frustration for the woman. In the context of a low-resource setting, sigmoid transposition represents a good procedure to treat vaginal aplasia and restore a satisfactory sexual activity to patients with MRKH type 1.