A case report of a misdiagnosed type I vaginal agenesis review

Abstract

Introduction and importance

Type I Vaginal agenesis presents with a range of clinical symptoms, including primary amenorrhea and periodic abdominal pain; in severe cases, it may also cause difficulty in urination, complicating the diagnosis.

Case presentation

This case report details the diagnostic journey of a 12-year-old girl who was repeatedly misdiagnosed due to “periodic abdominal pain and difficulty in urination” and ultimately diagnosed with Type I vaginal agenesis.

Clinical discussion

After several hospitals failed to determine the cause, our department diagnosed her with Type I vaginal agenesis and she underwent standard surgical treatment to restore physiological function.

Conclusion

This report underscores the critical importance of early and accurate diagnosis of this rare condition, and highlights the effectiveness of appropriate surgical intervention and thorough postoperative care, aiming to guide the clinical management of similar cases in the future.

Highlights

• •Reporting a rare case of type I vaginal atresia enriches the resource library of this condition.
• •We emphasize the importance of early accurate diagnosis and timely and appropriate surgical intervention in dealing with this disease.
• •The pathogenesis, diagnosis, and differential diagnosis of type I guidance blockage are detailed.
• •The surgical steps and key points of type I vaginal atresia are detailed to provide a reference for subsequent similar cases.

1. Introduction

Type I vaginal atresia is a rare congenital anomaly characterized by vaginal hypoplasia or aplasia, despite a normally developed endometrium [1]. It results from abnormal development of the urogenital sinus and the distal Müllerian duct, preventing the formation of a patent vagina and the normal discharge of menstrual blood [2,3]. This condition, while uncommon, has diverse clinical manifestations, including irregular or absent menstruation and potential complications such as urinary retention [4]. Diagnosis is typically established through clinical examination, imaging techniques such as ultrasound and MRI, and necessary histological evaluations to confirm the status of vaginal development [5]. The impact of vaginal atresia on patients' quality of life is profound, particularly affecting those in their pubertal and reproductive years [6].

This case report recounts the experiences of a 12-year-old girl who presented with periodic abdominal pain and urination difficulties, leading to the diagnosis of Type I vaginal agenesis after comprehensive evaluation. The diversity of its clinical presentations and the convoluted diagnostic pathway pose significant challenges in both diagnosis and treatment. Through standardized surgical intervention and restoration of physiological anatomy, this case highlights the importance of prompt and precise management to improve patient outcomes. By analyzing this case in detail, the aim is to enhance clinician awareness of Type I vaginal agenesis and to discuss effective treatment strategies, providing a reference for managing similar cases.

2. Methods

The work has been reported in line with the SCARE criteria [7].

3. Presentation of case

A 12-year-old female patient was admitted to the hospital with complaints of “periodic abdominal pain for six months, accompanied by acute difficulty in urination and lower abdominal pain for 1 day.” She reported experiencing periodic lower abdominal pain and urination difficulties beginning six months prior to admission, with symptoms occurring intermittently and resolving spontaneously. Despite conservative treatment at several hospitals, her condition worsened a day before admission, culminating in an inability to urinate independently, along with lower abdominal distension and pain. She was subsequently admitted for these symptoms. Physical examination: The abdomen was soft with no tenderness or rebound tenderness. The bladder area was notably distended, with dullness on percussion. There was no purulent or bloody discharge from the urethral opening. A palpable mass between the anterior vaginal wall and the urethral opening measured approximately 3 × 2 cm, was of medium consistency, had clear boundaries, and was non-tender (Fig. 1). Digital rectal examination: Insertion was unimpeded; the sphincter tone was tight; no masses were felt along the rectal wall; there was no tenderness, and the glove remained clean post-examination.

Fig. 1.

A mass could be palpated between the anterior wall of the vagina and the urethral orifice about 3 ∗ 2 cm in size, of moderate consistency, with clear boundaries, and no tenderness.

Ancillary examination: Magnetic resonance imaging (MRI), both plain and enhanced, revealed an inhomogeneous signal shadow in the cervical canal and vagina, suggestive of a blood accumulation, indicative of possible vaginal or hymenal atresia (Fig. 2). Gynecological ultrasound: Findings were consistent with a potential vaginal atresia. A cystic mass was noted in the cervical canal and vagina, possibly due to blood accumulation.

Fig. 2.

MRI: A mass-like inhomogeneous signal shadow in the cervical canal and vagina, which tends to be blood accumulation, considering vaginal atresia or hymenal atresia.

Treatment course: Upon admission, the patient was treated with catheterization and anti-infection therapy. Given that the abdominal pain and difficulty in urination were attributed to blood accumulation in the vagina from vaginal atresia, surgical intervention was undertaken. The procedure, performed under general anesthesia on December 7, 2023, included incision of vaginal atresia, vaginoscopy, removal of accumulated blood, and subsequent vaginoplasty.

Surgical steps:

• (1)Aseptic disinfection was performed, followed by the placement of an F14 catheter and instillation of mL water to facilitate drainage of light yellow urine. The labia majora were sutured to the skin at the thigh's root to fully expose the vagina. At approximately 1 cm below the urethral orifice, at the junction where hymen remnants were identified in the anterior vaginal fornix, a puncture was made vertically with a 0 mL syringe. After penetrating about 1.5 cm, dark red menstrual blood was withdrawn, clearly marked with a marking pen. An initial horizontal incision was made along the hymenal remnants at the 3 o'clock and 9 o'clock positions, freeing the space under the corpus spongiosum of the urethra. Approximately 1.5 cm deeper, the vaginal cavity was accessed, revealing a large amount of dark red menstrual blood (Fig. 3).
• (2)A vaginoscope was employed for direct visualization; approximately 300 mL of dark red blood stasis was observed in the vaginal cavity. Using negative pressure suction, the menstrual blood was removed, and the vaginal wall was examined for its development, revealing no tumors, diverticula, etc. The vaginal cavity was dilated further to visualize and assess the dilated cervical orifice, which measured about 1 cm and showed a small amount of red menstrual blood overflowing before withdrawing the vaginoscope.
• (3)A circular incision was made in the lower wall of the vagina along the marked area, and a hand was inserted into the rectum to guide the freeing of the lower wall of the vaginal atresia. Connective tissue associated with the vaginal atresia was fully resected.
• (4)Sterile gloves were changed, and the vaginal mucosa at the anterior fornix was sutured intermittently to reconstruct the distal vagina. The surgeon inserted the middle finger and index finger into the vaginal cavity to ensure there was no resistance.
• (5)A sterile gauze strip was placed in the vaginal cavity to prevent adhesion and promote healing of the artificially created vagina (Fig. 4). Postoperative treatment included ongoing anti-infection measures and vaginal dilatation. Follow-up visits at 3, 6, and 12 months post-operation showed no recurrence, and the patient's menstrual cycle returned to normal. The patient's family expressed that their visit experience was marked by significant challenges, involving multiple consultations without diagnosis. Eventually, an accurat diagnosis and effective treatment were obtained, restoring their daughter's health and social identity. They emphasized the importance of continuous advancements in medical care to ensure timely and precise treatment for future patients with similar conditions.

Fig. 3.

Before surgery.

Fig. 4.

After surgery.

4. Discussion

This case illustrates a rare condition of a 12-year-old girl experiencing periodic abdominal pain, difficulty in urination, and an inability to menstruate, attributable to Type I vaginal atresia. This report underscores the diverse clinical manifestations of vaginal atresia in adolescent females and its potential complications. Despite multiple hospital visits where only symptomatic treatment was provided without investigating the underlying causes, the diagnosis was significantly delayed, severely impacting the patient's quality of life. This case highlights the necessity of being vigilant about the possibility of congenital anomalies in children presenting with abdominal pain, particularly when accompanied by delayed menstruation. The detailed account of the surgical procedures not only sheds light on managing such cases but also offers valuable insights into successfully restoring the patency and functionality of the patient's vagina, thereby providing a reference for similar clinical scenarios.

Vaginal atresia can be classified into distinct types based on its anatomical position and severity. Type I, also referred to as high vaginal atresia, involves the occlusion of the upper portion of the vagina, resulting in separation from the uterine cavity. Consequently, the upper part of the vagina lacks an opening, leading to impaired menstrual blood discharge [[2], [3], [4]]. This type is typically diagnosed during the neonatal period or early infancy. In contrast, Type II, known as mid-vaginal atresia, affects the middle segment of the vagina, where the canal remains connected to the uterine cavity but is obstructed distally. As a result, the lower part of the vagina lacks an opening, causing similar retention of menstrual blood. Both types lead to hematocolpos and associated symptoms. Diagnosis generally relies on physical examination, ultrasonography, and additional imaging studies. Treatment strategies depend on the specific type and degree of atresia, as well as the patient's age and clinical presentation. For Type I vaginal atresia, surgical intervention is often required to restore vaginal patency [1,5].

Differential diagnosis includes: (1) Imperforate hymen, characterized by a bulging hymenal membrane with a bluish-purple hue during gynecological examination. The normal hymen is a thin mucosal layer located approximately 3–5 cm inside the vaginal introitus. High-frequency transvulval ultrasound may be employed for further evaluation if necessary. A “beak-shaped” appearance suggests vaginal atresia, whereas a muscular septum with peripheral thickening and central thinning indicates a closed septum [5]. (2) Non-perforated vaginal septum, which is frequently associated with Müllerian duct anomalies such as uterus didelphys and double cervix. The septum originates from the cervical diameters, deviates obliquely from the midline toward the distal end of the vagina, and fuses with the lateral vaginal wall, forming a blind-ended cavity on one side. (3) Larger vaginal wall cysts, which must be differentiated from menstrual blood retention. These cysts are typically oval in shape, exhibit good acoustic transparency on transrectal ultrasound, and are often located unilaterally within the vaginal wall.

Vaginal atresia is generally regarded as a rare congenital malformation with a low incidence and is often overlooked due to its asymptomatic nature [8]. Reports in the literature indicate that vaginal atresia can manifest various symptoms, including amenorrhea, abdominal pain, and difficulty in urination [9]. In this case, the patient's symptoms aligned with those documented in existing research, and the diagnosis was confirmed through imaging studies such as MRI and ultrasound. These imaging tests revealed the presence of vaginal atresia and cystic masses, which provided a crucial foundation for the subsequent surgical treatment [5].

The patient was treated with vaginotomy, evacuation of hematocolpos, and vaginoplasty. These procedures are standard surgical interventions for atresia and its complications [2,4,10]. The goal of the surgery was to reconstruct the vaginal cavity and restore normal physiological function by excising the atretic tissue and evacuating the accumulated blood. Literature emphasizes the importance of early intervention for patients with vaginal atresia, noting that timely surgical treatment significantly enhances the quality of life and mitigates potential psychological impacts [11]. The patient exhibited favorable postoperative recovery, and the treatment's effectiveness was evident following anti-infection measures and successful vaginal dilatation.

Comparison with the literature shows that this case provides valuable clinical experience for the diagnosis and treatment of vaginal atresia, particularly concerning the management of adolescent patients. Future clinical practice should increase awareness of vaginal atresia, ensuring that necessary examinations and interventions are promptly conducted upon the presentation of related symptoms. In addition, the importance of long-term follow-up and psychological support must be highlighted to guarantee comprehensive patient recovery.

5. Conclusion

In summary, the rarity of type I vaginal atresia means that extensive clinical research on its pathogenesis and diagnostic criteria is lacking. Additionally, the selection and evaluation of treatment modalities for this condition require further clinical study. This case has enriched our understanding of type I vaginal atresia and offered valuable insights for clinical treatment. It is hoped that the dissemination of this case report will deepen the clinical understanding of the diagnostic and treatment methodologies for type I vaginal atresia, thereby providing a reference for the clinical management of similar cases in the future.

Author contribution

Zhihuang Wu: Research concept or design; data collection; data analysis or interpretation; writing the paper.

Chunsheng Liu: Contributor.

Jianbin Luo: Contributor.

Informed consent

Written informed consent was obtained from the patient's guardian for publication of this case report and accompanying images. A copy of the written consent is available for review on request.

Ethical approval

All the data of this study was taken from the medical records of the patient. This report does not contain any personal information that could lead to the identification of the patient. Therefore, it is exempted from ethical approval. Institutional name: The Second Hospital of Longyan, Fujian, China

Guarantor

Zhihuang Wu.

Research registration number

Not applicable.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Conflict of interest statement

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.