Treatment of Mayer Rokitansky Kuster Hauser's Syndrome in Senegal

The Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or Müllerian aplasia is a rare congenital condition characterized by the absence of a uterus and the upper two-thirds of the vagina in women with normally developed secondary sexual characteristics. This condition affects approximately 1 in 4,500 women [1]. The discovery of MRKH syndrome is almost always made in adolescence by a painless primary amenorrhea in a young girl with completely normal puberty development [2]. The objective of this study was to determine the effect of the Dupuytren technique and Frank's method on four patients aged 19 to 28 with MRKH syndrome in the period from 2016 to 2020 at the National Center Hospital of Pikine in Dakar-Senegal.

This was a serie of clinical cases enrolled over a period of 4 years (From 2016 to 2020). The study took place in the Gynecology Department of the National Hospital Center of Pikine. The patients were recruited during gynecological consultations. Each patient underwent a comprehensive exam with questioning about amenorrhea, sexual activity and infertility, a physical exam looking for secondary sex characteristics and measuring the length of the vagina. Regarding paraclinical examinations, a pelvic ultrasound or an MRI was requested. Other examinations such as laparoscopy and karyotype were performed depending on the context. The diagnosis was made in the absence of visualization of the uterus and the upper 2/3 of the vagina on MRI after ultrasound orientation.

The average age of our patients was 22.6 years with extremes of 19 and 28 years. The reason for consultation was the impossibility of sexual intercourse since marriage for 3 patients and primary infertility for the fourth (Table 1). The interrogation also revealed a primary amenorrhea which had not justified a consultation in Gynecology. One patient reported cyclic pelvic pain. No specific medical history was reported in our series. The clinical examination found good general condition in all cases. The secondary sexual characteristics were present and were normal (Figures 1 and 2). Pelvic examination revealed a one-eyed vagina with depths of 1cm, 2cm, 3cm and 7cm respectively. A pelvic ultrasound systematically performed in all of our patients confirmed the absence of a uterus.

 Figure 1: Vaginal agenesis before specific treatment (patient 3). 

Figure 2: MRI profile section showing absence of the uterus with visible presence of two ovaries (Patient 3). 

Table 1: Summary of cases of MRKH syndromes treated at the pikine national hospital center. 

Other additional examinations were requested depending on financial means. It was MRI (Figure 3) in 3 cases, diagnostic laparoscopy (Figure 3) in 3 cases and karyotype in 1 case. All these examinations confirmed the diagnosis of MRKH syndrome, with an absence of vagina and uterus, although the appendages were present. One case was associated with a urinary malformation of the pelvic kidney type. The karyotype was type 46XX for all three patients.  

Figure 3: Laparoscopic aspect showing the absence of uterus and presence of ovaries (Patient 3). 

Two patients had undergone enlargement surgery using the Dupuytren technique (Figure 4). Another patient chose non-surgical treatment with progressive vaginal dilation using Frank's method. The fourth was advised to continue intercourse, as she had already achieved a vaginal length of 7 cm with this procedure. Psycho-sexual follow-up was provided by the surgical team. These different treatments had made it possible to obtain, within 5 months, a vaginal length of 9 cm on average for the Dupuytren method (Figure 5) and 7 cm for the Frank method. Sexual satisfaction was noted by all patients. Infertility, however, remained a major concern in current follow-up. 

Figure 4: Macroscopic appearance of the vaginal fund during enlargement vaginoplasty properly presenting to specific Dupuytren technique (patient 3).
 

Figure 5: Vaginal dilation session in 2 considered months after enlargement vaginoplasty (patient 3).

Frequency 

The Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or Müllerian aplasia is a rare congenital condition with a frequency of 1 in 5,000 female newborns. Its onset is generally sporadic although a few familial cases have been described [3-5]. Its incidence in Africa and Senegal is not specified due to poor documentation. In our Hospital, during the 4 years of study, we identified 4 cases, or one case per year. Our results are similar to those of Schwaab and Bryand in 2019 [6], who over a period of 17 years, had identified 31 cases, or 1.8 cases per year.

Clinical aspects 

The reasons for consultation in our series were the impossibility of intercourse and primary infertility. Primary amenorrhea is the earliest clinical sign [1,7], but in our context where adolescent sexuality is rarely discussed or even taboo, patients do not come for a consultation until after marriage. The inexpensive abdominal ultrasound remains the diagnostic test of choice. The study by Schwaab and Bryand, in 2019 [6] showed the place of ultrasound in the management of Rokitansky Syndrome by comparing it to MRI; no ultrasound results were misdiagnosed. However, MRI remains the gold standard in diagnosis. It makes it possible to confirm the malformation and also to find the associated anomalies [8,9]. 

The diagnostic laparoscopy was performed in three of our patients, it confirmed the diagnosis as well as the associated lesions but also guided the Dupuytren enlargement vaginoplasty. Laparoscopy is a minimally invasive examination that should only be performed in cases where the ultrasound and MRI are inconclusive, or with the aim of involving additional procedures.

Therapeutic aspects 

In our series, two patients had received surgical management according to Dupuytren. This technique consists in performing spontaneous epithelialization on a mold, after having created a neocavity [10]. It is followed by sessions of progressive dilation until healing allows for sexual intercourse. The epithelialization took two months for our patients. It requires good support and personal motivation from the patient. 

The vaginal depth that we obtained with this technique is greater than that reported by Ben Hmid et al., [11] who used the techniques of Mac Indoe and Davydov [12,13] in 13 patients and who had obtained an average of 7 cm (from 4.5 cm to 10 cm). The difference in these results could be explained by the fact that in the series by Ben Hmid et al., some patients did not have regular sexual intercourse after the treatment. Mac Indoe’s technique is considered the Gold standard for vaginal aplasia, due to its simplicity and low risk of complications [14]. On the other hand, the techniques of Dupuytren and Davydov also have the same success and have the advantage of making the precise diagnosis and of detecting the associated lesions thanks to laparoscopy. 

In one patient, only Frank's method was used, it is a non-surgical method, using pyrex prostheses. This technique therefore involves the use of passive dilation of the vaginal cup. It allowed to have a vaginal depth of 7 cm after 3 months of treatment. However, it should be emphasized that this technique requires compliance and significant attendance on the part of the patient. In addition, the vaginal cup must be deep enough (2 to 4 cm) to allow dilation to begin [15]. Some authors, especially North Americans, as well as the American College of Obstetrics and Gynecology, recommend this non-surgical technique as a first-line treatment for the treatment of aplasia [16,17]. The procedure can last six weeks to several months, with varying success rates. Functionally, all of our patients reported sexual satisfaction after treatment. We also note the satisfaction of two spouses who actively participated in the support and care.

Our first experience, which we retain through these 4 cases of patients with MRKH syndrome, is the problem of announcing the diagnosis and its consequence on fertility, sexual disorders and the choice of therapy. The Dupuytren technique appears effective if the vaginal depth is less than 2 cm, and the Frank method should suffice when it is greater than 2 cm.

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

The authors declare that they have no competing interests.