Uterovaginal Anomalies in Pediatric Patients.

Congenital uterovaginal malformations (UVM) are deviations from normal anatomy resulting from embryological maldevelopment.[ 1 ] The overall published data suggest a prevalence of uterovaginal anomalies around 1%–6%.[ 2 ] Its diagnosis is important but often difficult at a young age. For proper management, the physician requires a thorough understanding of normal embryology and sexual differentiation.[ 3 ] Surgical management of obstructed UVM anomalies requires a detailed assessment through history-taking, physical examination findings, and often radiological imaging.[ 4 ]

Imperforate hymen was the most frequent anomaly of the female reproductive tract in our series. It was observed in seven patients [ Table 1 ]. They presented recurrent lower abdominal pain with primary amenorrhea. An acute urinary retention revealed the anomaly for one patient. An abdominopelvic Prerectal mass was palpated in four cases; on the clinical examination, the hymen was visualized as a bluish bulge at the perineum for all patients [ Figure 1 ], and transabdominal US was performed to confirm the diagnosis which revealed a hematocolpos. The seven cases underwent hymenectomy using the Caparo incision technique in three cases and the Z incision technique in four cases to release the menstrual flow. During the procedure, a significant amount of the fluid was drained. The outcome following repair of an imperforate hymen remains excellent without recurrence for all the seven cases. Management of genital tract malformation in our series Imperforate hymen in a 13-year-old girl Three patients had a high vaginal atresia that was not suspected because the introitus and lower vagina were normal upon inspection in two cases and with an imperforate hymen in one case. They exhibited primary amenorrhea and cyclic pelvic abdominal pain as their first symptoms. An abdominal and prerectal mass was palpated in all cases, and a bulge was felt [ Figure 2 ]. 2D US and/or MRI confirmed the presence of an obstructed upper vagina with hematocolpos [ Figure 3 ]. Anteposition of the anus was identified in one patient, and renal anomalies were observed in three patients, including hydronephrosis, pelvic horseshoe kidney, and vesicoureteral reflux. Medical management consisted on using oral contraceptive pills in all cases for menstrual suppression. Definitive surgical correction was the therapy of choice for the three cases to create a new vaginal canal by McIndoe vaginoplasty in two patients using buccal mucosa graft in one patient and skin graft in the second patient. The third patient was managed by pudendal bilateral flaps [ Figure 4 ]. During the 1 st year of follow-up, patients who underwent surgery for vaginal atresia were managed postoperatively by undergoing vaginal dilatations weekly, which resulted in a favorable outcome. Vaginal stenosis was observed in the patient treated with the McIndoe procedure using a skin graft, and it was managed through an anastomosis revision. The long-term outcomes were simple. The follow-up of the anomalies of the urinary tract was done by US every 6 months. Hydronephrosis and vesicoureteral reflux initially noted have regressed, and the anteposition of the anus was operated by posterosagittal incision at the same time as vaginoplasty [ Figure 5 ]. Vaginal atresia in a 13-year-old girl (a and b) Magnetic resonance imaging images showing dilated fluid-filled uterus and vagina, (c) Lateral view showing the length of the vaginal atresia Final result after pudendal bilateral flaps procedure for vaginal atresia (a) Intraoperative view of a posterosagittal approach for both anteposition of the anus and vaginoplasty: blue arrow: rectum, red arrow: upper third of duplicate vagina, (b) Final result Two cases had a didelphys uterus with left blind hemivagina, where the endometrial cavity was noncommunicating, and without renal agenesis or renal anomaly. They have a regular menses with cyclic abdominopelvic pain, the painful prerectal mass was palpated, and the diagnosis was established by US and MRI [ Figure 6 ]. One case of didelphys uterus with blind hemivagina was operated by a single transvaginal surgical procedure [ Figures 7 and 8 ], including removal of the obstructed vaginal septum and marsupialization of the blind hemivagina. The second case had an endometrial noncommunicating cavity, and she underwent a left hemihysterectomy by laparotomy with simple outcomes. Blind right hemivagina bulging in the left normal hemivagina Magnetic resonance imaging image showing a dilated fluid-filled hemivagina (red arrow), a normal left hemivagina (green arrow) behind the bladder (black arrow) Intraoperative view showing the stay sutures on the blind hemivagina and the localization by puncture of the site of the septum of the obstructed vagina to be removed A bicornuate uterus with a rudimentary left horn was identified in one case revealed by cyclic abdominopelvic pain and a prerectal mass. An MRI was done which revealed one uterine cervix with an endometrial noncommunicating cavity. The left hemihysterectomy was done by laparoscopy with simple outcomes. Two cases had a transverse vaginal septum located in the mid-vagina; they presented cyclic abdominal pain, vaginal discharge, and amenorrhea. The diagnosis was confirmed on MRI, and they were treated by excision of the septum without sutures. No stenosis and stricture formation were found, and the patients followed their vaginal dilation well.

UVM are a complex group of anomalies, a rare but important concern for pediatric surgeons. Their diagnosis and management are so difficult and should be done properly at an early age by a multidisciplinary team including a pediatric surgeon, a gynecologist, an endocrinologist, and a psychiatrist. In young adolescents with complex anomalies, menstrual suppression allows time to consider optimal management, and psychological support is essential for the patient to accept a long treatment procedure. The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. There are no conflicts of interest.

To understand obstructive anomalies, it is important to review the embryology of the reproductive tract. The development of the female genital tract represents a complex process beginning at 3–4 weeks of gestation and continuing into the second trimester of pregnancy. Until 8 weeks of gestation, the human fetus is sexually undifferentiated and contains both male (Wolffian) and female (Müllerian) genital ducts.[ 5 ] Wolffian structures differentiate into the vas deferens, epididymis, and seminal vesicles. The Mullerian ducts fuse together and differentiate into the fallopian tubes, uterus, and upper one-third of the vagina. The lower two-thirds of the vagina arise from the urogenital sinus, and canalization of the vagina occurs by the 5 th month of gestation. The urogenital sinus also gives rise to the sinovaginal bulbs which proliferate to form the hymenal tissue which perforates before birth.[ 4 ] In fact, there is general agreement that the vagina is a composite formed partly by the most caudal portion of the Müllerian ducts (sinovaginal bulbs) and partly by the posterior wall of the urogenital sinus (vaginal plate): the point of contact between the two is the Müllerian tubercle. This dual origin theory best explains the various levels of vaginal obstruction that are seen clinically.[ 1 ] Defects in lateral and vertical fusion or canalization lead to a large variety of congenital anomalies of the reproductive tract. Although the Wolffian ducts atrophy in women, their close relationship to the Mullerian ducts and association with the development of the kidney and collecting systems explain why Mullerian anomalies are often associated with urinary tract abnormalities.[ 4 ] There are many proposed classification systems for Mullerian anomalies. Classifications can be quite confusing and are often excessively detailed. The most complete and widely accepted is from the American Fertility Society. Clinically, the reproductive tract abnormalities can be best understood, and their implications appreciated, if based on embryological principles. Using this classification, malformations are aplastic, hypoplastic, or of failed lateral or vertical fusion that can be communicating or not communicating.[ 6 ] Using this simple framework, an appropriate management plan can be facilitated. Achieving an accurate diagnosis for UVM is challenging, but it is crucial to provide appropriate treatment. Symptomatology differed markedly depending not only on the site of obstruction but also on the complexity of the anomaly. Symptoms included an abdominal mass, distension, cyclic abdominal pain, amenorrhea, and a pelvic and prerectal mass.[ 7 ] In the pediatric population, an US examination or MRI is particularly useful.[ 3 ] In the patient with known or suspected uterovaginal anomalies, US is particularly successful in delineating dilated fluid-filled structures.[ 8 ] In our series, the US was the only imaging done in 46% of cases to establish a diagnosis of the imperforate hymen in seven cases (hydrocolpos has a characteristic sonographic appearance consisting of a double cystic mass which represents the dilated uterus and vagina and the presence of echoes within the mass implies the presence of blood or debris). MRI is a very accurate imaging modality in uterine evaluation and contributes significantly to treatment planning.[ 2 ] Although the superb tissue contrast seen in the adult uterus is not as easy to achieve in the infant or child, the superiority of MRI in tissue differentiation is clear. In our series, it was done for 40% of cases. We propose, in accordance with many authors in the literature, to reserve MRI imaging for patients with an indeterminate US examination. The laparoscopy has been an important tool for the exploration and treatment of uterovaginal anomalies. It provides an excellent visualization and easy access to pelvic structures. We have used it to define the anomaly, for other authors to monitor endometriosis or a hysteroscopic procedure, replace an absent vagina, and resect abnormal Müllerian structures.[ 9 ] Nowadays, some authors consider laparoscopy to be the gold standard in the diagnosis of congenital uterine anomalies. Despite being highly specific, it is an invasive procedure with potential morbidity, making it hard to justify its use solely for diagnostic purposes in pediatric and adolescent population. More recently, the development and refinement of US and MRI have provided nonsurgical means for obtaining an accurate diagnosis in most cases. US has proven to be of considerable importance in defining the nature and complexity of obstructive defects of the reproductive tract in pediatric and adolescent patients.[ 5 ] The surgery should be performed on the young child or adolescent, to achieve acceptable and hopefully ideal results. Using an oral contraceptive or Luteinizing Hormone-Releasing Hormone (LHRH) analog to stop menstruation provides the necessary time for planning the surgery and alleviates the symptoms from obstructive conditions.[ 3 ] The obstructive UVM were classified into two categories: anomalies associated with primary amenorrhea and anomalies in the presence of menstrual cycles. Obstructive anomalies are associated with a high risk of endometriosis through retrograde menstruation, thus early diagnosis and treatment are essential.[ 4 ] Imperforate hymen is the most frequent anomaly of the female reproductive tract, occurring in 1/2000 girls, and it represents a persistent portion of the urogenital membrane. The imperforate hymen is usually seen in girls in their early teens. Depending on the circumstance, an imperforate hymen may be detected in adolescent girls as recurrent bouts of lower abdominal crampy pain but does not menstruate. On the clinical examination, the hymen may be visualized as a bluish bulge at the perineum with an evident prerectal and pelvic mass. Transabdominal or translabial US may be used to confirm the diagnosis. A simple cruciate incision of the hymen will release the menstrual flow and allow further normal menstruation.[ 5 ] In our series, we prefer a Z-shaped incision, but some authors prefer a U-shaped incision at the base of the hymenal membrane as it maintains a normal hymenal remnant. Reproductive outcomes following repair of an imperforate hymen remain excellent.[ 4 ] Vaginal atresia is estimated to occur in 1 in 4,000–5,000 live female births.[ 10 ] It is a rare congenital defect resulting in uterovaginal outflow tract obstruction. Fifteen percent of young patients with vaginal agenesis have segmental vaginal atresia which is usually referred to as complete or partial vaginal atresia (lower vaginal atresia).[ 5 ] The Mayer–Rokitansky–Küster–Hauser syndrome is defined as a complete vaginal atresia associated frequently with uterine agenesis. The fallopian tubes are normal, and the ovaries demonstrate normal endocrine function. Absence of the vagina or complete atresia could be detected during examination of a newborn; however, it is usually diagnosed at puberty when young adolescents present with primary amenorrhea, as it is the second most common cause of primary amenorrhea.[ 4 ] In infancy, partial vaginal agenesis can present as hydrocolpos or hydrometrocolpos; however, more commonly, it occurs after menarche as a result of trapped menstrual secretions and, similar to imperforate hymen, the adolescent girls are often in severe cyclic pain located in the pelvis or in the vagina after only a few months of obstructed flow. Surgical management of vaginal atresia of 3 cm or less is a vaginal pull-through procedure. The introitus is entered, and we dissected in the area between the bladder and rectum until the obstruction is reached. The vaginal mucosa can be brought down to the introitus and sutured after the hematocolpos was drained. Stenosis and stricture formation have been found to occur more often in patients in which there is a distance of 3 cm or more from the obstruction to the introitus. Furthermore, a pull-through procedure in patients with large atresia can result in a very short vagina. In such cases, menstrual suppression is recommended until the patient can perform vaginal dilation, thus allowing for easier approximation of the vaginal edges and assuring the ability of the patient to perform postoperative dilation. There are various methods for surgically constructing neovaginas, and the difference is the tissues used to line the neovagina. The various techniques described are Abbe–McIndoe, McIndoe, and Bannister procedure constructing neovagina from bowel segments, gracilis myocutaneous flap, pudendal-thigh flaps, labia minora flaps, fasciocutaneous flaps, flaps raised following tissue expansion of the labial pocket, peritoneum and bladder mucosa, and autologous buccal mucosa graft.[ 10 ] The reconstruction with flaps involves complex techniques. In the musculocutaneous flaps, the gracilis and rectus are the most commonly used muscles. These flaps require larger dissection to create an adequate space between the rectum and the bladder. The failure rate of the gracilis flap is high because of tenuous vascularity of the flaps. In pudendal flaps, the problem is of dehiscence, infection, and drainage.[ 9 ] The laparoscopic Vecchietti is a simple and effective procedure to treat complete vaginal agenesis using a minimally invasive approach, but the procedure is technically demanding.[ 11 ] Bowel vaginoplasty utilizing sigmoid colon offers some advantages over skin grafts because of distensibility and self-lubricating property with no tendency for neovagina stenosis but has the drawbacks of a laparotomy with visible scars, possibility of bowel obstruction, and problem of mucous secretion.[ 12 ] Autologous buccal mucosa has also been attempted as graft material encouraging results obtained for neovaginoplasty in few studies.[ 13 ] The technique proposed by McIndoe improves quality of life and provides a sexual satisfaction and a functional vagina with minimal complications.[ 10 ] Out of the many different approaches available for vaginal reconstruction, the technique proposed by McIndoe has remained till now the most popular and safest technique for the treatment of vaginal agenesis.[ 10 ] Transverse vaginal septum occurs as the result of the failure of absorption of tissue between the vaginal plate and the caudal end of the fused Mullerian ducts. Patients with a complete transverse vaginal septum present in a similar manner to patients presenting with an imperforate hymen.[ 4 ] The locations of transverse vaginal septa include the upper third of the vagina (46%), middle third of the vagina (40%), and lower third of the vagina (14%).[ 14 ] Surgical management is the definitive therapy associated or not with subsequent vaginal strictures requiring dilation. Thin septae can be resected followed by an end-to-end anastomosis of the proximal and distal vagina, and usually followed by vaginal dilatation[ 5 ] Thicker septae, however, present a surgical challenge as resection may leave a defect between the proximal and distal vagina possibly requiring skin or intestinal graft to bridge the gap.[ 4 ] In general, a single transvaginal surgical procedure, including removal of the obstructed vaginal septum and marsupialization of the blind hemivagina, solves the symptoms of this pathology. Didelphys uterus is a disorder resulting of a complete or near-complete failure of the Müllerian ducts to fuse. Each duct develops into an independent hemiuterus and cervix, although partial cervical fusion is generally seen. In the general population, the true incidence is unknown but has been reported to be between 0.1% and 3.8%.[ 15 ] Without obstruction, didelphys uterus is asymptomatic. However, 6% of cases with duplicated cervix and uterus are characterized by unilateral obstruction of one hemivagina by vaginal septum. Didelphys uterus with obstructed hemivagina is usually associated with ipsilateral renal agenesis. More recently, an acronym OHVIRA (obstructed hemivagina and ipsilateral renal anomaly) has been proposed to describe this condition.[ 5 ] In general, examination reveals an anterolateral bulge in the vagina that makes it impossible to reach the cervix. In these cases, persistent postmenstrual hemorrhage is characteristic before the patient presents with pyocolpos in the obstructed vaginal canal. There is sometimes limited inter-uterine (at the level of the isthmus) or inter-vaginal (at the vaginal apex) communication.[ 4 ] In the majority of cases, regular menses from the communicating hemiuterus result in misdiagnosis and increase the risk of unindicated procedures at the time of presentation. Occasionally, the condition can be diagnosed following acute urinary retention.[ 14 ] Hysteroscopic metroplasty has been performed with simultaneous abdominal US to evacuate and correct a complete septate uterus with unilateral hematometra.[ 16 ] Bicornuate uterus is the result of the incomplete fusion of the two Müllerian ducts at the level of the uterine fundus and is characterized by two divergent uterine horns that fuse at the level of the lower uterine isthmus. A muscular uterine septum is also present and classification depends on its extent (complete bicornuate unicollis uterus/complete bicornuate bicollis uterus/partial bicornuate uterus). Bicornuate uterus is considered an incidental finding in child- and adolescenthood. Evaluation of bicornuate uterus should begin with US during the luteal phase of the menstrual cycle. MRI is very effective in characterizing uterine anomalies; it is extremely important to correctly differentiate a septate uterus from a bicornuate one, for which surgical intervention is not indicated. Nonuterine causes of infertility must be ruled out before metroplasty is considered a last resort.[ 5 ]

We carried out a retrospective study of adolescents with UVM who were treated between 2008 and 2022 in our pediatric surgery department. Fourteen patients were evaluated with a mean age of 13.5 years (ranging from 10 to 15 years). The UVM were diagnosed with ultrasound (US), magnetic resonance imaging (MRI), and laparoscopy. All cases were categorized using an embryological-clinical classification system of Müllerian malformation (the American Society for Reproductive Medicine classification), that provides a precise diagnosis and appropriate clinical management. Surgical treatment was performed according to the anomaly type, and the patient’s symptoms.