Methods of Gynecologic Evaluation for Patients with Anorectal Malformations

Part of a five-part series on gynecologic care for patients with anorectal malformations (ARM), developed by the Gynecology Committee of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). This article reviews the clinical, radiologic, and surgical methods used to evaluate the gynecologic system, equipping providers with practical techniques for evaluation in both high- and low-resource settings.

Key Points

Given the prevalence of gynecologic anomalies in patients with an ARM, age-appropriate evaluation of gynecologic anatomy is an integral component of care.
The presence or absence of a vaginal opening can be confirmed with an external genital exam in a young child with an ARM and does not require sedation. Examination under anesthesia with vaginoscopy allows for additional assessment, including vaginal length, the presence and number of cervix(ces), and the presence or absence of a vaginal septum.
Upper Müllerian structures can be evaluated with imaging studies and/or during intra-abdominal surgeries, depending on the patient's age and ARM anatomy.
Opportunistic evaluation of anatomical differences, done in conjunction with collaborating surgical teams, is appreciated by families and allows for anticipatory guidance to proactively address gynecologic concerns, especially when predicting the risk of menstrual obstruction at menarche.
Gynecologic evaluation is a key part of care in patients with an ARM, allowing for opportunities to discuss sexual and reproductive health concerns across the patient's lifespan.

Why Evaluate at All Ages?

Anorectal malformations (ARM) are rare congenital anomalies occurring in 1 in 5000 children, encompassing a wide spectrum of anatomical presentations, from rectovestibular, rectovaginal, or rectoperineal fistula to a persistent cloaca. The high prevalence of gynecologic anomalies in patients with a persistent cloaca is well established, cited as high as 53–67%, and has also been noted in 17–35% of patients with an ARM without cloaca. Despite this high prevalence, gynecologic evaluation is rarely incorporated at the time of the initial surgical repair for ARM without cloaca, which may result in delayed diagnosis of gynecologic anomalies and adverse outcomes at pubarche and menarche.

Investigation of the gynecologic anatomy in patients with an ARM allows for accurate counseling, appropriate monitoring during puberty, and, when indicated, surgical discussions to plan the optimal timing and operative management for each individual patient. Structural anomalies — including variations in the shape and number of uterine bodies, hydrocolpos secondary to trapping of urine in the compliant potential vaginal space, or hematometrocolpos due to menstrual obstruction at puberty — carry risks of ascending infection, scarring and damage of the fallopian tubes, and endometriosis. Delayed identification can result in long-term quality-of-life implications such as pelvic and/or sexual pain and infertility. Early identification, anticipatory counseling, and close monitoring of the gynecologic system — particularly at puberty — is crucial, and appropriate evaluation should be performed starting from the time of ARM diagnosis and continued throughout the patient's lifespan.

Identifying the anatomy early in life allows providers and families to adequately prepare for and proactively address gynecologic concerns. While findings identified during these evaluations are not always acute medical problems, concerns related to future fertility, puberty, and sexual health are often at the forefront of parents' minds. Families should have the opportunity to discuss reproductive health concerns starting from infancy, and early, ongoing evaluation of the gynecologic system supports this counseling.

When Should Evaluation Be Completed?

Opportunistic Evaluation

Opportunistic evaluations are a simple, low-risk way to gather anatomic information, plan for future monitoring and possible surgical intervention, and give parents more information and anticipatory guidance. Opportunistic evaluation occurs when a patient is already undergoing anesthesia for another procedure, and gynecologic evaluation is performed during the same anesthetic event. These evaluations often occur prepubertally and can assist with anticipatory guidance for puberty; however, there can be limitations in anatomic evaluation prior to puberty, as Müllerian structures are underdeveloped prior to hormonal exposure.

Symptom-Based Evaluation

Symptoms that necessitate evaluation vary by age and associated congenital anomalies; however, abdominal pain, recurrent urinary tract infection, or a change in urinary function without a clear urologic cause should trigger evaluation, as these may be signs of hydro- or hematometrocolpos. There should be a low threshold for further diagnostic evaluation given the known risks of ascending infection and endometriosis. Puberty itself should also be considered a symptom requiring gynecologic evaluation, as it allows for the most accurate identification of Müllerian anomalies once gynecologic structures are fully developed after hormonal exposure.

External Genital Exam

In patients with an ARM, external evaluation of the genital anatomy may be limited, particularly in younger patients. In all patients, labial traction is applied by grasping the bilateral labia majora and gently pulling directly toward the examiner, outward and posteriorly. This can be performed to obtain visualization of the vulvar vestibule, including the urethral opening, vaginal opening (including the hymen if present), and the distal vagina. A distal vaginal exam completed this way is, however, inadequate to rule out Müllerian anomalies. Trauma-informed care (TIC) should be used for all genital exams, and chaperones are always recommended for any type of pelvic exam, to protect both patients and providers.

Prepubertal Considerations

Prepubertal patients are often examined using labial traction in a frog-leg position, supine with knees apart and feet touching, on an exam table or a parent/guardian's lap for comfort. On exam of the introitus, prepubertal hypoestrogenic external periurethral and hymenal mucosa typically has a darker pink/red appearance and may be sensitive or friable. In prepubertal patients, TIC includes explaining exam steps to parents and patients as developmentally appropriate, positioning based on comfort, providing reassurance that labial traction exams are not painful, and obtaining consent prior to documenting any HIPAA-compliant photographs.

Pubertal and Young Adult Considerations

Once exposed to hormones at puberty, estrogenized mucosa should appear a lighter pink, with better tissue compliance. Pubic hair is present and documented according to the Sexual Maturity Ratings (Tanner staging). The patient may be examined in a frog-leg position or in lithotomy. Findings should include the presence or absence of stenosis, especially with a history of introital surgery. In older children and adults, TIC includes allowing patients to refuse or defer exams, or to lead the exam themselves. As multidisciplinary ARM care may involve many providers, it may be helpful to let the patient decide who should be present during the exam; HIPAA-compliant photo documentation may be preferred to limit the number of providers in the room. There should always be a developmentally appropriate explanation of the steps and confirmation of patient assent prior to proceeding. Patient-guided exams can be offered using a handheld mirror to review the anatomy and address cosmetic questions. Patients may carry medical trauma from multiple childhood interventions and should be given space to acknowledge and process these experiences, with referrals as appropriate to psychology or psychiatry colleagues.

Vaginal Exam and Vaginoscopy

A speculum exam is not recommended for pediatric patients in sedated or non-sedated settings, as vaginoscopy is an atraumatic method of vaginal evaluation with superior visualization compared to speculum examination. While postpubertal anatomy can accommodate a speculum, vaginoscopy is often preferred, even in adolescents, to minimize discomfort. Older adolescents, particularly those who are sexually active, may be able to tolerate an in-office exam with a speculum for evaluation of the vagina and cervix.

Vaginoscopy is commonly performed in coordination with other procedures under anesthesia and allows for a complete vaginal evaluation and assessment of the lower gynecologic tract. Findings should include a description of the vaginal mucosa, vaginal septum if present, and cervix/cervices. While prepubertal hypoestrogenic external mucosa may appear hyperemic, prepubertal vaginal mucosa may appear pale, thin, and friable. Post-pubertal estrogenized mucosa should have rugation and appear pink.

Vaginoscopy is typically performed with a cystoscope or hysteroscope, depending on the patient's size, age, pubertal status, and resource availability. Pediatric cystoscopes range in size from 8 to 10.5 Fr (2–5 mm); their smaller size minimizes discomfort, decreases the risk of hymenal injury, and allows navigation through stenotic or tortuous vaginal canals. Hysteroscopes may be useful in post-pubertal patients with longer, more pliable vaginas, as the longer scope and larger output channels allow for higher-pressure distention fluid and better visualization, and operative scopes allow passage of instruments for biopsy or intervention. Sterile normal saline is typically used for vaginal distension. The scope is placed gently inside the hymenal opening and the bilateral labia majora are compressed together to create a water-tight occlusion, allowing for fluid distension of the vagina. Unlike hysteroscopy, calculation of fluid deficit is not necessary, as there should not be significant intravascular absorption of fluid within the vagina.

Systematic evaluation should be carefully documented to aid future surgical planning and assess risk of uterine anomaly and future menstrual obstruction. The number and location (apical, midline, or laterally deviated) of the cervix or cervices should be noted. If a longitudinal vaginal septum is present, both sides should be explored and the septum's length noted. Total vaginal length (TVL) should be recorded, typically defined as the distance from the posterior fornix (the point just posterior to the cervix where cervix and vagina meet) to the vaginal introitus; in a persistent cloaca, it is defined as the distance from the posterior fornix to the common channel confluence point, not including the common channel itself. TVL is typically measured by placing the tip of the scope at the cephalad end of the vagina or septum, marking the position at the introitus, and then removing the scope to measure this length. Alternative methods include an open-ended catheter or ureteral stent with distance markings, or a small probe or dilator without a scope to avoid overestimation during vaginal distention.

While vaginoscopy is typically performed under anesthesia in young patients, especially combined with other procedures, office vaginoscopy is possible. In the office setting, a hand-held wireless hysteroscope may be most convenient and comfortable.

Intestinal neovaginas add complexity to vaginoscopy. While there are no established society guidelines for follow-up and screening in patients with an intestinal neovagina, this tissue requires lifelong surveillance. A flexible sigmoidoscopy is the most appropriate method for evaluation of an intestinal neovagina and should be performed by, or in collaboration with, providers experienced in interpreting mucosal findings and resecting or biopsying colorectal lesions. When a flexible sigmoidoscopy by an appropriately trained provider is not available, the vaginoscopic technique may be used, though assessment may be limited by the length of the neovagina, the inability to maintain adequate fluid distension, and the ability to obtain adequate biopsy specimens.

Hysteroscopy

Hysteroscopy can be considered in patients after puberty to evaluate the cervical canal and intrauterine cavity (or cavities); it should not be performed in prepubertal patients due to the small size of uterine structures prior to pubertal development. Postpubertal indications include those with a prior concern for a uterine anomaly, though this may vary by practice. Hysteroscopy is most helpful when Müllerian anatomy is unclear — the uterine cavity shape and the number and location of fallopian tube ostia, for example, can provide key information regarding anatomy.

Hysteroscopy is often performed by placing a speculum in the vagina, a traction instrument (e.g., a single-toothed tenaculum) on the cervix, then blindly placing sequential dilators through the cervix prior to passing the hysteroscope into the uterus. However, consideration of attempted intrauterine access without cervical instrumentation — via hydrodissection and gentle twisting of the hysteroscope within the cervical canal — is recommended. This allows for direct visualization throughout the intrauterine cavity without the need for cervical instrumentation, offering a lower risk of hymenal or vaginal injury and a decreased risk of cervical trauma or uterine perforation with cervical dilation; however, this is not feasible in every patient. Hysteroscopy should only be performed by a gynecologist or other experienced hysteroscopic surgeon due to the risks of uterine perforation, injury to the uterine vessels, and the potential for cervical false passages.

Intra-Abdominal Evaluation

Surgical inspection of internal gynecologic anatomy can be performed opportunistically at the time of any other intra-abdominal procedure. A systematic pelvic survey includes the number, location, and size of the uterus/uteri, fallopian tubes, and ovaries. Placing the patient in Trendelenburg positioning allows for optimal visualization of the pelvis during laparoscopy; for open abdominal procedures, lateral tilt of the operating table to the contralateral side can improve visualization of the adnexa. Care should be taken to minimize instrumentation of the adnexa, particularly the fallopian tubes, which can result in scarring.

Precise documentation and intra-operative photos of Müllerian anatomy can greatly enhance future patient counseling about reproductive outcomes, especially if a gynecologist is not available for the intraoperative assessment.

The prepubertal uterus is typically small, with the cervix and uterine body of similar proportions — a normal prepubertal uterus can even appear as a thin band of tissue, similar in diameter to the fallopian tube, prior to the growth stimulated by puberty. A mature uterus is 6–10 cm in length (including the cervix) and grows in all three dimensions, becoming proportionally larger and wider than the cervix. Prepubertal ovaries are typically elongated, soft, and range from cream to yellow in color, and should not have ovarian masses or cysts. Mature ovaries are typically white/cream-colored, round, with small simple cysts (follicles) or visible sites of ovulation.

Antegrade saline pertubation — performed either laparoscopically or during open laparotomy — is a specialized method for assessing Müllerian system patency, considered in select cases with an uncertain connection between the uterus, cervix, and/or vagina. It should only be performed by a gynecologist or equivalent specialist experienced in surgical manipulation of the fallopian tube. Pediatric feeding tubes are used to cannulate the distal ends of the fallopian tubes; the fimbriae are gently compressed digitally, and sterile saline is instilled antegrade through the fallopian tube, uterus, cervix, and vagina bilaterally. A urethral catheter is typically placed to avoid ambiguity about whether fluid egress from between the labia is urine or instilled saline; dilute methylene blue can also clarify the location of fluid egress. If saline passes easily through the system and exits the vagina, this implies a low likelihood of future obstruction of menstrual products.

In the post-pubertal patient, chromopertubation via the cervix can be performed instead: an intrauterine catheter is passed vaginally through the cervix into the uterus, and dilute methylene blue or indigo carmine is gently instilled retrograde. The abdomen is inspected visually, laparoscopically or during open laparotomy, and the presence of dye passing through bilateral fallopian tubes indicates a lack of obstruction.

Gynecologic Imaging

Pelvic imaging is best used for gynecologic evaluation in conjunction with direct visualization, especially in the pre-pubertal patient. Imaging studies have the advantage of allowing repeated low-risk assessments over time and visualization of the endometrium in post-menarchal patients; however, they may be limited by the patient's age, size, pubertal status, or ability to tolerate the exam, increasing the risk of misdiagnosis.

Patient age and pubertal status have a stronger effect on imaging accuracy than in other organ systems. From birth to the first 3–6 months of life, maternal estrogen exposure and hormone production from mini-puberty stimulate the uterus and endometrium, improving visualization. Between this time and the onset of puberty, gynecologic structures are often too small to visualize. Obtaining gynecologic imaging at the time of ARM diagnosis is therefore ideal, to take advantage of this short window. Thelarche signifies the body's exposure to estrogen and is considered a marker for pubertal onset; because imaging surveillance is planned due to a risk of menstrual obstruction, the occurrence of thelarche — rather than patient age — can be used to initiate surveillance. The endometrium is best assessed after the onset of puberty, and imaging post-menarche is most accurate for endometrial cavity assessment.

Pelvic Ultrasound

Transabdominal ultrasound (US) is typically used for evaluating gynecologic anatomy in pediatric and adolescent patients with an ARM. While a transvaginal approach may be appropriate for some consenting adolescents, it is typically not recommended due to discomfort and potential medical trauma from insertion of the transvaginal probe, and may be particularly challenging with a surgical history that increases the risk of vaginal stenosis. Transabdominal US should be performed with a distended bladder for optimal visualization. CT imaging is not recommended for evaluation of gynecologic structures, as it provides suboptimal visualization of the uterus and adnexa while exposing the patient to unnecessary radiation.

Ultrasound findings should describe the presence and shape of any uterine structures, endometrial thickness in all uterine bodies (in post-pubertal patients), and the size and location of ovaries. Fallopian tubes and vaginas, including the presence of a vaginal septum, are typically not visible on US except in the setting of pathologic findings such as hydrosalpinx or hydrocolpos. In patients with two Müllerian structures, asymmetric endometrial complexes may indicate menstrual obstruction of the dilated side. It is not uncommon to have a non-visualized ovary on transabdominal US in a prepubertal child, given the small size of the ovaries, presence of bowel gas, and an incompletely full bladder; it is important to understand this limitation, as it can otherwise prompt parental anxiety. Ultrasound should be first-line imaging for gynecologic evaluation, for both screening and symptomatic assessment.

Pelvic MRI

Pelvic MRI allows for more detailed evaluation of pelvic structures than US, especially vaginal structures and intrauterine anatomy. MRI should be considered when menstrual obstruction is suspected on US, when needed for surgical planning, or if US cannot confirm the uterine anatomy in a post-menarchal patient and clarification is desired. Some institutions use dedicated "Müllerian anomaly protocols" focused on structural assessment of the uterus/uteri, cervix/cervices, and vagina, including T2-weighted uterus-oriented sequences to assess coronal and axial images, since Müllerian structures are not aligned on the same axis as the rest of the body. Consulting with a radiologist to develop an institutional protocol can improve diagnostic accuracy in patients with complex pelvic anatomy.

Additional pre-MRI protocols can help evaluate the vagina, including radio-opaque markers (such as a fat-soluble vitamin E capsule at the introitus) or instillation of lubricant or US gel into the vagina. An introital marker aids in measuring the distance between the distal aspect of the menstrual obstruction and the introitus — an important measurement for operative planning that can otherwise be difficult to identify on MRI due to the labial folds. Vaginal distension with lubricant or gel provides opacification of the potential vaginal space, helping clarify whether vaginal septa are present and the length of patent vagina.

Fluoroscopy

For patients with a persistent cloaca, more extensive imaging is important to understand anatomic structures prior to reconstruction. Traditionally, 2-D fluoroscopy with water-soluble contrast through the mucous fistula, with images at anterior/posterior, lateral, and oblique angles, is used; catheters placed into the bladder or vagina can add contrast to highlight these structures. While 2-D fluoroscopy is fast and safe, anatomic detail can be obscured by overlapping structures. Three-dimensional reconstruction with rotational fluoroscopy can be useful for clarifying the anatomic relationship of structures and providing more accurate measurements. This is typically performed during the same anesthesia event as an examination under anesthesia with cysto-vaginoscopy, with catheters placed in the bladder and vagina, pelvic structures opacified with water-soluble contrast, and confirmed with 2-D fluoroscopy. An external radiopaque sticker is placed at the level of the perineal opening, and rotational fluoroscopy is performed using a 180-degree rotating C-arm over 8 seconds. While MRIs can provide 3-D detail, they cannot evaluate real-time filling of structures and optimal distension/opacification.

Hysterosalpingogram

In adults, patency of the Müllerian system can be evaluated with hysterosalpingogram (HSG) — retrograde instillation of contrast followed by fluoroscopic X-ray imaging. HSG can evaluate tubal patency (important in infertility evaluation) and the contour of the endometrial cavity (or cavities). It can also confirm unobstructed menses, though this indication is less common as US alone is usually adequate.

Other Considerations

In patients with complex medical or surgical needs, like those with an ARM, additional imaging and examination may lead to coordination difficulties or financial hardship. Exam under anesthesia and pelvic endoscopic evaluation with vaginoscopy can be performed at the time of other imaging or surgical procedures already under anesthesia, minimizing the number of anesthetic events. It is also important to consider the economic impact of these studies; while thorough imaging is ideal, providers must recognize the potential burden of cost, logistics, and unnecessary worry over incidental findings, as well as the quality of the exam if not performed at a specialty center. The decision on the type and timing of diagnostic tools should be a shared decision between the patient/family and the medical team.

It is important to obtain information longitudinally throughout the patient's lifespan through both examination and imaging. An accurate understanding of the patient's anatomy involves prepubertal and pubertal assessment, as well as evaluation of the upper and lower gynecologic tracts at developmentally appropriate timepoints.