A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report

Background

Obstructive uterovaginal anomalies are uncommon genital female malformations, which include transverse vaginal septum, imperforate hymen, and distal vaginal atresia [1,2]. The prevalence of vaginal agenesis is reported to range from 1/4000 to 1/10 000 females, with distal atresia accounting only for 5% of all cases [1,2].

Typically, the diagnosis is often delayed until the onset of obstruction symptoms during puberty. Consequently, the clinical presentation usually involves amenorrhea, pelvic pain, and presence of an abdominal mass [3]. Imaging of the pelvis, through abdominal and/or transrectal ultrasound along with pelvic magnetic resonance imaging (MRI), plays a crucial role in confirming the precise diagnosis, describing its anatomy, and guiding proper treatment [3].

The main objectives of definitive surgical correction are to alleviate symptoms and restore anatomical integrity, enabling sexual function and preserving future fertility [1,2,4]. However, surgical repair can pose challenges given the rarity of the diagnosis, anatomical variations, and the risk of postoperative complications such as vaginal stenosis and re-obstruction [3].

Furthermore, female genital malformations are frequently associated with urinary tract and skeletal system abnormalities (in 40% and 10% of cases, respectively) [4,5].

Caudal regression syndrome (CRS) is a rare congenital disease with an unknown etiology and a prevalence of 1–2 per 100 000 live births [6]. It is characterized by malformations of the vertebral column, spinal cord, and lower limbs, varying in severity, resulting from developmental failure early in gestation [6]. The patients may present with a variety of skeletal malformations, with clinical manifestation as shortened trunk, flexion-rotation-abduction contracture of the hip joints, flexion contracture of the knee joints, and clubfeet [7]. CRS can also manifest as a range of multisystemic malformations, including those affecting the genitourinary tract and its neural inputs, neural tube, and anorectal and cardiovascular systems [8]. Maternal ultra-sound allows prenatal diagnosis, and fetal MRI can be used to confirm the syndrome [9]. The management should be individualized for each case and must include a multidisciplinary team to address different abnormalities [10].

This report presents the case of a 13-year-old girl with caudal regression syndrome and previously undiagnosed distal vaginal atresia, who presented to the Emergency Department with debilitating monthly abdominal pain.

Case Report

A 13-year-old female, pre-menarcheal, white, adolescent presented to the emergency room with concern of cyclical monthly pelvic pain that started 3 months before. The pain progressively worsened every month, with only slight relief with oral analgesics. She had no nausea, vomiting, fever, or urinary symptoms. Her previous medical history included complex malformations in the lumbar and sacrococcygeal vertebral region, suggesting CRS (Figure 1), without any known extra-skeletal abnormalities. She was the fifth child in her family, with an unremarkable familial history.

Physical examination revealed normal development of secondary sexual characteristics. On abdominal examination, mild suprapubic tenderness was noted, without distention. The pelvic exam showed normal labia majora, minora, and urethra. However, the vaginal opening was absent and covered by a thick pink mucous membrane, without any bulge (Figure 2). A rectal exam revealed a large bulge anteriorly, measuring a total of 50 mm, along with a fibrous septum in the distal portion of the vagina, measuring approximately 20 mm.

A pelvic transabdominal ultrasound revealed a distended structure with an hourglass appearance and hyperechoic echoes inside, suggesting hematometrocolpus. In the right adnexal region, a cystic formation with similar echogenicity and a total dimension of 55×42 mm was observed. The left ovary was not identified.

Subsequently, a pelvic MRI was performed, which showed no abnormalities in the urinary system or anorectal region. The uterus was deviated towards the right side and distended due to hematometra. The vagina was distended up to 50×48 mm of anteroposterior and transversal diameters, respectively, due to a large hematocolpus (Figure 3). The distance from the level of the introitus to the inferior border of the obstructed proximal vagina measured 24 mm. The right fallopian tube appeared enlarged due to hematosalpinx. It was not possible to identify with certainty the left ovary and tube.

The patient received fixed analgesia and started hormonal suppression of menses with continuous combined oral contraception. However, over the next 2 weeks, her pain worsened and did not respond to analgesia.

Due to the persistence of pain and uncertainty about the anatomy of the internal reproductive organs, 2 weeks after the first visit, the medical team decided to perform a diagnostic laparoscopy with drainage of the hematocolpus.

During the procedure, a slightly enlarged uterus accompanied by a distended vagina in the lower region was observed. The left adnexa was positioned higher and fixed to the left abdominal wall, without any connection to the uterus. The left round ligament extended directly into the left inguinal canal from the abdominal wall, without connecting to the uterus. On the right side, the adnexa was transformed into a complex conglomerate, fixed to the anterolateral right abdominal wall, and covered by the peritoneum. This included the distended right tube, ovary, and round ligament, which were connected to the uterus.

The uterosacral ligaments were bilaterally positioned normally (Figure 4). These findings indicated a diagnosis of distal vaginal atresia and complex malformation of the internal reproductive organs (U0 C0 V3 according to the European Society of Human Reproduction and Embryology/European Society of Gynecological Endoscopy classification) [11].

Laparoscopic drainage of the hematocolpus was performed through a 5-mm incision using diathermy in the expanded upper anterior vaginal wall. Careful dissection with endoscopic scissors was then carried out, and dark brownish thick fluid was drained using suction (Figure 4).

Since the patient was uncomfortable with the idea of postoperative dilation, according to shared decision-making, menstrual suppression with gonadotropin-releasing hormone (GnRH) agonists with ad-back therapy was prescribed for 3 months, followed by continuous combined oral contraceptive pills, to allow us to plan the definitive treatment at a later date.

Six months after the initial surgery, following discussion of the case with the gynecology, radiology, and plastic surgery teams, ultrasound-guided pull-through vaginoplasty was performed.

Under general anesthesia, a long 20G needle was inserted into the medial part of the thick pink mucous membrane to access the hematocolpus. Sharp (with scissors) and blunt (digital) dissection of the fibrous tissue were performed, following the path of the previously inserted needle. The distal part of the dilated vagina was incised, and dark organized blood was drained. The excision area was extended laterally into the vaginal sidewall.

During the procedure, after the dissection of fibrous tissue, diagnostic cystoscopy revealed a laceration of the urethra posteriorly, which was repaired using a 2/0 polyglactin 370 suture. Diagnostic hysteroscopy demonstrated a normal upper vagina and cervix, along with a wide and distensible uterine cavity. At the end of the procedure, the patency of the vagina was confirmed (Figure 5).

The patient was discharged 1 week after surgery with a comprehensive understanding of how to use vaginal dilators and a urinary catheter. Due to a urologic complication, the urinary catheter was kept in place for 2 weeks. Menstrual suppression with combined oral contraceptives was continued.

The patient had a follow-up appointment 1 month after discharge and was found to be asymptomatic (Figure 6). She continued using vaginal dilators as instructed and had regular follow-up visits. One year after the definitive surgery, she remains asymptomatic, experiences regular withdrawal bleeding, and shows no signs of obstruction.

Discussion

To the best of our knowledge, we present the first case of a patient with caudal regression syndrome and distal vaginal atresia, emphasizing the importance of early evaluation of the reproductive tract and its possible abnormalities in patients with vertebral malformations.

The pathophysiology underlying the association between CRS and genitourinary anomalies is not yet fully understood. It is believed to result from defects in the embryonic development of caudal elements, occurring before the fourth week of gestation, due to injury in the mesodermal axis, leading to arrested development of the caudal mesoblastic yolk [8]. Therefore, when diagnosing vertebral or sacral malformations, it becomes essential to screen for potential anorectal and genitourinary abnormalities [10]. A pertinent case documented in the literature involved a patient with congenital scoliosis, where the diagnosis of uterine cervix agenesis only surfaced at age 46 years [12]. Due to her age and associated pathology, destructive treatment was performed, which might have been avoided with earlier detection [12]. In our case, a simple gynecological evaluation during childhood would have led to the identification of obstructive uterovaginal malformation. An early diagnosis could have facilitated planning appropriate management before the development of incapacitating pain and complications such as hematosalpinx, potentially eliminating the need for hematocolpus drainage prior to definitive treatment.

Establishing the diagnosis of distal obstructive uterovaginal malformation is not difficult. However, all 3 entities (imperfo-rate hymen, transverse septa, and distal vaginal atresia) have similar clinical presentations (pelvic pain starting during the pubertal period, amenorrhea, and hematocolpus) and can appear the same on pelvic examination [1,2]. Therefore, imaging is crucial to achieve an accurate diagnosis and ensure successful treatment [1–3]. While pelvic ultrasonography is the primary exam for patients presenting with cyclic pain and amenorrhea [1], MRI is recommended if distal vaginal atresia or transverse vaginal septum are suspected [5,13]. This imaging technique allows for better evaluation of the height and extent of vaginal aplasia, guiding the choice of the most appropriate surgical technique, and can exclude extragenital abnormalities [5,13], However, in our case, MRI could not provide a complete evaluation of the internal reproductive organ’s anatomy, including the left adnexa. Thus, in complex cases, the laparoscopic examination provides additional valuable information for a better evaluation of the anatomy [5].

According to the American College of Obstetrics and Gynecologists, the recommended definitive treatment is the pull-through vaginoplasty, preferably performed when the vagina is distended due to hematocolpus, as this allows for an increase in the size of the proximal vaginal tissue to be mobilized during the intervention, and in thinning the fibrotic tissue [1,14]. However, since this procedure is associated with a high risk of postoperative vaginal stenosis, the use of a vaginal mold or dilator is recommended [1,15]. To allow the planning of definitive surgery and emotionally prepare young patients for postoperative dilation, menstrual suppression with continuous oral contraceptives, progestin-only injection, or gonadotropin-releasing hormone agonists can be employed [5,16].

In cases where the pain from the hematocolpus is unmanageable, drainage to relieve the pain becomes necessary [17]. In our case, despite menstrual suppression and analgesic treatment, the pain worsened over time, leading to the decision to perform hematocolpus drainage. In previous case reports, percutaneous drainage of hematocolpus through the fibrotic tissue has been described, but the risk of pyometra, which compromises the results of future corrective surgery, makes this option less than ideal [1,17]. Therefore, laparoscopic drainage was chosen as a better alternative, as it allows for relieve of the patient’s symptoms, with minimal risk of infection. This procedure was first described by Dennie et al in 3 patients with a transverse vaginal septum, yielding good results and enabling definitive corrective surgery to be performed later without compromising the tissue [17]. To the best of our knowledge, it was the first time it was performed in a patient with distal vaginal atresia.

The choice of surgical technique depends on the thickness of the fibrotic tissue. In our case, since it was less than 3 cm, pull-through vaginoplasty was possible. As advised in previously described cases of vaginal agenesis [18], ultrasound guidance was used, allowing us to restore functional anatomy and reproductive potential with a minor urethral lesion, which was promptly diagnosed and corrected, leading to healing without long-term complications.

Conclusions

In summary, our case emphasizes the importance of assessing reproductive tract anomalies in patients with vertebral malformations. Early detection of obstructive uterovaginal anomaly is pivotal for strategizing optimal management and preventing complications such as retrograde menstruations, which can lead to hematosalpinx and heightened risk of endometriosis.

During the acute phase, and when a patient is not emotionally prepared for the definitive treatment (requiring postoperative dilation), laparoscopic drainage can alleviate symptoms and clarify anatomy without compromising the success of subsequent definitive surgery.