Innovating the conservative management of isolated cervical aplasia
- 1 Department of Gynaecology, Coimbra Hospital and University Centre, Coimbra, Portugal
- 2 Department of Reproductive Medicine, Dexeus University Hospital, Barcelona, Catalunya, Spain
- 3 Faculty of Medicine, Autonomous University of Barcelona, Barcelona, Spain
- Correspondence to Dr Rafaela Pires; rafaelabilpires@gmail.com
Abstract
Isolated cervical aplasia (ESHRE/ESGE U0C4V0) is a rare condition with an incidence of approximately 1:100,000 births.
This congenital malformation of the female genital tract represents an impairment of the outflow tract and is an inevitable cause of infertility. Patients usually present with pelvic pain or haematometra and surgical treatment is needed. Conservative management is the first line of approach, allowing for future fertility. However, complications are not negligible. Choosing the best surgical technique remains controversial as few follow-up studies have been published.
We describe a case report of isolated cervical aplasia diagnosed in a 16-year-old patient, managed by a canalisation procedure using a Foley catheter. Following failure of this approach, a levonorgestrel intrauterine system was inserted, which remained efficient after 4 years.
This case adds to the few reports of success in the management of this challenging clinical entity and might guide clinicians to avoid non-conservative approaches in young patients.
Background
Cervical aplasia (ESHRE/ESGE U0C4V0)1 is a rare condition with a frequency rounding 1 in 80 000–1 00 000 births.2 It is usually diagnosed during adolescence, since obstruction of the outflow tract results in an anterograde accumulation of the blood flow. The symptoms are typically primary amenorrhea in combination with cyclic pelvic pain.3 A delay in the diagnosis can lead to an increased prevalence of endometriosis, with an accompanying impairment of the normal function of the tubes and ovaries, and a negative impact on future surgical approaches.4
Physical examination usually reveals normally developed external genitalia and a vagina with varying length, ranging from normal to partial or total vaginal aplasia. A pelvic mass, resulting from varying degrees of uterine enlargement due to the accumulation of blood in the endometrial cavity (haematometra), may also be found.4
Ultrasound and MR allow for a more accurate characterisation of the malformation,5 offering countless advantages for effective presurgical planning.
Traditionally, hysterectomy was recommended as the first-line approach since canalisation procedures had high rates of failure, with frequent complications, and low rate of fertility restauration.6 However, hysterectomy precludes the desire for preserving childbearing potential. Thus, conservative procedures have been developed. In fact, recent advances in the laparoscopic approaches have made way for the success of conservative techniques.7 Long-term management usually combines medical and surgical options,4 with the former allowing to stabilise the clinical condition while the ideal solution is defined.
Herein, we report the successful management of a 16-year-old patient diagnosed with cervical aplasia. Treatment consisted of the placement of a Foley catheter followed by an intrauterine device (IUD), leading to the resumption of menstrual cycles.
Case presentation
A 16-year-old girl was admitted to the emergency department referring cyclic pelvic pain with recent worsening (Numeric Pain Rating Scale 8/10)8 and unresponsive to analgesic treatment. A primary amenorrhea without coitarche was reported. Regarding previous medical history, the patient had type-1 diabetes and no previous surgical procedures. No mother history of diethylstilbestrol use during pregnancy was reported. On physical examination, Marshall and Tanner9 stage M4/P4 and a normally developed vagina were observed. Due to patient discomfort, the cervix could not be adequately examined. Transabdominal ultrasound revealed a large haematometra corroborating the hypothesis of a defect of the outflow tract. Vaginoscopy revealed a blind vagina and the haematometra was drained transvaginally with ultrasound guidance, under anaesthesia. MR confirmed the anatomical defect, leading to the diagnosis of an isolated cervical aplasia with normally developed uterus and vagina (ESHRE/ESGE U0C4V0).1 No other malformations, such as ovarian malposition, tubal anomalies or renal agenesis, were evident.
Gonadotropin-releasing hormone agonists were administered to prevent symptom recurrence. Diagnostic laparoscopy corroborated the anatomical defect and aided surgical planning optimisation. The abdominopelvic cavity was inspected, revealing mild bilateral haematosalpinx, and sparse superficial peritoneal endometriosis was fulgurated.
Treatment
A minimally invasive surgery was proposed aiming to preserve the patient’s reproductive potential. Both patient and family were counselled regarding the surgical management options and associated risks. A canalisation procedure with a Foley catheter was attempted. The patient was placed in a low lithotomy position to allow both abdominal and vaginal approaches. Four ports were positioned: the primary central umbilical port with 10 mm and three accessory 5 mm ports located in the hypogastric and iliac regions. The vesicouterine and rectouterine spaces were dissected, allowing for appropriate uterine mobilisation and vaginal dome identification guided by vaginoscopy transillumination. A fundic hysterotomy was performed with monopolar energy, and a vestigial haematometra was drained using a laparoscopic suction tube. A hysteroscope was introduced through the uterine fundus transilluminating the vagina. Next, vaginoscopy was performed and a colpectomy was carried out with hysteroscopic scissors under transillumination guidance. Tunnelisation into the inferior uterine segment was achieved with hysteroscopic scissors. A 16 fr latex Foley catheter was placed through the dissected channel, pulled from the vagina through the colpectomy, adjusted, filled with saline solution (3.5 mL) and fixed to the vagina with a non-absorbable single suture (silk, #0) to prevent slipping (video 1). The total procedure lasted 120 min and the blood loss was approximately 50 mL. Antibiotic prophylaxis with cefuroxime (500 mg two times per day) was prescribed for 2 weeks after surgery and a cyclic oestroprogestative was introduced. No immediate complications were identified (figure 1). Four weeks after the procedure, the catheter was spontaneously expelled and a new surgical procedure for repositioning the catheter was performed under anaesthesia. A vaginoscopy was performed and the catheter was inserted through the previous colpectomy incision under transabdominal ultrasound guidance and fixed to the vaginal wall with three separate non-absorbable sutures (silk, #0). Withdrawal bleeding occurred in the following months and the catheter was removed electively 3 months later.
Abdominal ultrasound view of intrauterine Foley catheter left in place.
In the sixth month of follow-up, no withdrawal bleeding was reported, and ultrasound imaging revealed a moderate haematometra (figure 2). A repetition of the surgical procedure was attempted, but it was considered ineffective.
Three-dimensional ultrasound of the uterus with cervical aplasia, revealing a moderate haematometra.
The management was re-evaluated and discussed, and an alternative and innovative conservative approach was considered and performed under anaesthesia. The procedure lasted 50 min with negligible blood loss, and was performed according to the following description:
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The haematometra was drained using an ovarian puncture needle (single lumen, 17G×300 mm) under ultrasound guidance
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A guidewire (from central venous catheter’s kit) was threaded through the needle
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The needle and ultrasound probe were removed from vagina
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Using a hysteroscope (5 mm diameter) and hysteroscopic scissors, and following the guidewire, a uterovaginal tunnelisation was created (by double guidance: direct visualisation and abdominal ultrasound)
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The hysteroscope was placed inside endometrial cavity (video 2) at 2 cm from the uterine fundus
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The hysteroscope was disassembled, keeping just the outer sheath inside uterine cavity
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The 13.5 mg levonorgestrel IUD was removed from its original plastic applicator
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The IUD was run through the outer sheath, with the help of a hysteroscopic grasper and inserted in situ.
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The grasper and the outer sheath were removed from endometrial cavity, and the threads cut 2 cm from vaginal vault
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The final position of the IUD in the uterine cavity was confirmed by vaginal ultrasound (figure 3).
Abdominal ultrasound view immediately after intrauterine system insertion (left) and hysteroscopic uterine cavity view with intrauterine system wires (right).
Outcome and follow-up
The patient is now in her fourth year of follow-up and on the second levonorgestrel IUD (figure 4). Regular menses resumed without gynaecological reports. Annual transvaginal ultrasound evaluations have revealed a virtual endometrial cavity with an in situ IUD.
Mid-sagittal plane (left) and multiplanar reconstruction (right) of the uterus with an in situ intrauterine system.
Discussion
Cervical abnormalities represent 3% of all uterine malformations10 and constitute a blockage to the physiological menses and an impairment of the reproductive potential.
Embryologically, the uterus, cervix and upper part of the vagina derive from symmetrically paired Mullerian (paramesonephric) ducts. Their complete development depends on three steps: organogenesis, fusion and septal reabsorption.11 The pathogenesis of isolated cervical aplasia is not fully understood, but some authors suggest that a mechanism of local atrophy can occur at the level of the primitive cervix.3 This hypothesis matches the observation of a normal vaginal development in the absence of a cervix, while elongation defects of the Mullerian ducts could explain cervicovaginal aplasia.
Primary amenorrhea with cyclic lower abdominal pain is the typical presentation. The first-line imaging modality is ultrasound (abdominal, transvaginal or transrectal) due to its accessibility and accuracy in the detection of haematometra. However, MR is usually required to clarify the anatomy, allowing for a better definition of the level of obstruction, with good surgical correlation (>80%).12 Other anatomical defects, such as ovarian or kidney malformations, should also be ruled out.5
Cervical aplasia symptoms can be subtle, leading to delayed diagnosis. The lag between the retention of menstrual blood and treatment has been pointed out as one of the predisposing factors for endometriosis, which can cause irreversible reproductive damage.13 Song et al, in a large review, concluded that more than half of the patients with cervical atresia had pelvic endometriosis.14 In keeping with the current literature, our patient revealed minimal superficial peritoneal lesions (American Society for Reproductive Medicine scoring system—stage I).15
Cervical aplasia occurs with concurrent vaginal agenesis in 50% of patients, and in one-third of the cases show a uterine anomaly.16 In 2010, Rock et al suggested a classification that differentiated cervical dysgenesis from agenesis—defined as the complete absence of uterine cervix.17 Three further categories were described for cervical dysgenesis: fragmentation, fibrous cord and obstruction. In their review, all cases of cervical agenesis underwent hysterectomy. The authors considered this anatomic defect to be the most difficult to correct and highlighted the need to explore anatomical configuration before surgery. In our case, MR followed by diagnostic laparoscopy was of paramount importance, providing an accurate diagnosis and guiding the most appropriate surgical approach.
Although a conservative management meets the desire for uterine preservation (aiming to maintain the patient’s reproductive potential), the risk of procedure failure, reintervention or surgical complication is not negligible. The latter can range from local to systemic infection or even death.18 Also, the patient must be informed that maintaining the uterus does not guarantee a future pregnancy. For these reasons, some authors recommended hysterectomy as the first-line surgical approach.12
However, conservative approaches have been gathering more space and relevance.10 19–22 These include cervical canalisation and uterovaginal anastomosis. In 1900, Ludwig et al were the first to manage a case of cervical aplasia conservatively, according to Jacob and Griffin.23 In 1973, a method of creating a communicating fistula using a propylene catheter to maintain cervical patency was described.24 Cervical reconstruction has also been reported, using either synthetic grafts,25 or native tissue, such as the clinical trial by Alborzi et al,26 which used peritoneal grafts for the successful treatment of four patients with cervical aplasia. More recently, several reports have highlighted the importance and safety of laparoscopy in the conservative treatment approaches to these patients.7 Robotic reconstructive surgery was also performed successfully,27 but further comparative studies are required.
The standardisation of these surgical techniques is yet to be achieved and, despite the classification of 2010,17 surgical options are not clearly defined for specific anatomical findings. The low incidence of this disease results in sparse follow-up studies.7 12 17 Some authors have suggested that the total absence of cervix or its fragmentation, as part of cervical dysgenesis spectrum, are not common candidates for canalisation.28 Factors proposed as predictors of surgical success include the distance from cervix to vagina defect, the size of the created channel, the time the catheter resides in place and the presence of cervical glands.29 According to Deffarges et al, uterovaginal anastomosis should be preferred to canalisation techniques owing to the 40%–60% risk of cervical restenosis associated with the latter.12 However, in the same study, the authors reported five cases of successful pregnancies following canalisation procedures. Another study from a reference centre also suggested uterovaginal anastomosis as the first-line procedure following successful treatment of 12 consecutive cases with concurrent vaginal aplasia.30
In our case, the decision for a canalisation procedure was discussed extensively and based on several premises, among which were the existence of a normal-length vagina, which would interfere with the exposure and practicability of the potential uterovaginal anastomosis, as well as the preference of the surgical team towards this procedure. The concurrent abdominal and vaginal approach was motivated by the impossibility of safely performing a colpectomy and assuring the shortest path between vagina and uterus, without abdominal and intrauterine guidance. Taking into account that no uterine structure was protruding in the vaginal dome, a direct transvaginal entrance into the uterine cavity could not be achieved without potentially injuring adjacent organs or missing the lowest part of the uterus. We used a cyclic oestroprogestative to maintain menses, based on previous reports, which established that cyclic combined pills administrated postoperatively for 2–3 months promoted epithelialisation of the surgically formed uterovaginal canal.10 Additionally, it allows for menstrual cycle control, should suppression become medically indicated.
The number of reinterventions needed to maintain the patency of a successful reconstruction varies among patients and, so far, no limit to the number of attempts has been established. In this case report, a novel approach was attempted. The practicability of such an approach had already been demonstrated in cervical stenosis.31 The rationale behind the introduction of a low-dose levonorgestrel IUD was to maintain menses. The cyclic blood flow and the foreign body effect caused by the wires of the IUD were considered crucial for the re-epithelisation of the uterovaginal communication and for maintaining its patency. The IUD was positioned regularly in the uterine cavity to avoid complications associated with device malpositioning.32 This new procedure was simple to execute and remains successful after a 4-year follow-up.
In conclusion, isolated cervical aplasia (ESHRE/ESGE U0C4V0) constitutes a complex clinical challenge in gynaecology. The few clinical reports reflect both the rarity of this condition and the lack of experience in its surgical conservative management. Thus, sharing novel approaches is essential to effectively manage these patients without neglecting the importance of preserving their reproductive potential and improving quality of life.
Learning points
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Cervical aplasia is a rare female tract congenital malformation responsible for chronic pain and inevitable infertility, which requires a challenging and unique management.
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Conservative surgical treatment, including canalisation procedures, is an infrequent approach that aims at ceasing symptoms with the benefit of possibly restoring fertility, as opposed to other definitive and last-line approaches, such as hysterectomy.
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The use of a low-dose levonorgestrel intrauterine device, in this case, allowed to benefit from the foreign body effect while resuming menses.
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The innovative procedure adopted by the medical team has proven successful in the 4-year follow-up and will continue to be closely monitored. This procedure was applied following three previously failed attempts of conservative approaches, for the purpose of maintaining the reproductive potential.
Ethics statements
Patient consent for publication
Acknowledgments
The authors wish to thank Dr Maria Geraldina Castro for contributing with the published ultrasound images, and to the clinical team involved in the management of this case for their support.
Footnotes
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Contributors RP was the lead author of this case report, involved in the patient management, especially in initial care and diagnosis. ARN was a key contributor for the manuscript and clinical revision of the gynaecological aspects of the case. FG, as the referral doctor of the patient, and FA, as head of the department, have been actively involved in the decision-making process and present in every step of the patient treatment. All authors revised and approved the final version published.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
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Competing interests None declared.
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Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
References
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