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 pubertal trajectory and the evaluation of gynecologic structures throughout puberty, as puberty allows for the development of Müllerian structures and can reveal anomalies affecting menstrual and reproductive function.

Key Points

• Gynecologic assessment is recommended throughout puberty in all patients with a history of an anorectal malformation, as co-occurring gynecologic anomalies are common.
• Pelvic ultrasound is recommended 6–12 months after thelarche to evaluate upper Müllerian anatomy.
• Surgical intervention may be needed at or after puberty for congenital or post-operative gynecologic anomalies, particularly those causing menstrual outflow obstruction.
• Although the diagnosis of menstrual outflow obstruction should be prompt, menstrual suppression permits delayed surgical intervention in most cases.
• Gynecologic surgical management in adolescence requires assessment of patient readiness and shared medical decision-making to optimize long-term outcomes.
• Comprehensive gynecologic and reproductive healthcare should continue throughout adolescence, ensuring adequate screening for menstrual functioning and sexual health.

Introduction

Puberty is a time of significant hormonal and physical maturation. In females, pubertal activation of the hypothalamic-pituitary-ovarian (HPO) axis leads to ovarian steroidogenesis, with downstream effects on bones, breasts, and uterine, vaginal, and vulvar tissues. Ovarian and uterine volume increase and the hormone-responsive endometrium thickens in preparation for menarche; the vaginal epithelium thickens and increases secretory mucous, improving tissue compliance and healing; and the vulva, particularly the labia minora, increases in length and width.

Patients with a history of an ARM are expected to undergo puberty at a timing and tempo consistent with age-matched peers, although those with co-occurring poor nutritional absorption or brain and spinal cord anomalies may experience altered pubertal timing. The average age of thelarche (breast tissue development) is 10–10.5 years, usually the first sign of puberty, occurring 2–3 years prior to menarche. Pubic hair development, or pubarche, can occur at any prepubertal age independent of puberty; evaluating a single secondary sex characteristic as a marker of pubertal maturation is therefore insufficient — puberty should be seen as a constellation of stepwise hormonal and physical changes.

Red flags for pubertal development warranting further evaluation and/or specialist referral include: no secondary sex characteristics by age 13; development of secondary sex characteristics but no menarche by age 15; no menarche within 3 years of development of secondary sex characteristics; and development of secondary sex characteristics with cyclic abdominal pain and no menarche at any age.

Evaluation of Patients with ARM at Puberty

Ideally, patients with an ARM have undergone an anatomical assessment prior to puberty. Although prepubertal assessments have limitations, given the small size and underdevelopment of Müllerian structures without pubertal hormones, they can help plan the tempo and extent of anatomic assessment required during puberty. During puberty, the primary goal of anatomic assessment is to ensure menstrual egress — both upper and lower Müllerian anatomy warrant evaluation for this purpose.

Uterine Evaluation

The American Society of Reproductive Medicine (ASRM) has developed standard nomenclature for gynecologic anomalies. The Müllerian anomalies most associated with an ARM are uterine didelphys with a longitudinal vaginal septum, distal vaginal atresia, and unicornuate uterus with or without a contralateral uterine remnant. Anomalies can be suspected prepubertally but are often not confirmed until after puberty, once Müllerian structures grow and the endometrium begins to function. They can be classified as non-obstructive or obstructive, either allowing or preventing menstrual egress. Menstrual egress without pain, or with pain easily relieved by over-the-counter analgesics and no evidence of hematometrocolpos on imaging, confirms a patent outflow tract. Menstrual obstruction usually presents with cyclic abdominal pain that increases in severity and duration with ongoing unresolved hematometrocolpos. Notably, menstruation alone does not rule out an obstructive anomaly, as it is possible to have a patent side and an obstructed side concomitantly.

All patients with a history of an ARM should have a transabdominal pelvic US within 6–12 months of thelarche to evaluate the size and contour of the uterine structures and the presence of an endometrium. Typical anatomy shows a single uterine body with a round fundal contour and a single, central endometrial lining extending from the fundus to the cervix. Uterine anomalies such as uterine didelphys will demonstrate a bilobed fundal contour and two distinct endometrial linings; it is important to confirm endometrial linings are symmetric in thickness, as asymmetry raises concern for hematometra and a unilateral obstructive anomaly.

When the pelvic US reveals typical findings, repeat imaging is not necessary, particularly when the prepubertal assessment also showed low concern for a Müllerian anomaly. When the pelvic US reveals a possible anomaly, or the pubertal assessment demonstrates moderate or high risk for menstrual obstruction, repeat imaging every 6–12 months until menarche is warranted to follow the evolution of Müllerian growth. If imaging identifies hematometrocolpos, or if the Müllerian anatomy remains uncertain after pelvic US, a pelvic MRI should be performed to further delineate the anatomy and/or diagnose the location of obstruction.

Cyclic abdominal pain during puberty is a red flag for menstrual outflow obstruction and should be evaluated with a pelvic US to exclude a hematometrocolpos. In low-resource settings where screening pelvic US for all ARM patients is not possible, close monitoring during puberty is an option, but clinicians should have a low threshold for obtaining gynecologic imaging with any cyclic or worsening pelvic pain, given the risks of an undiagnosed obstructive anomaly.

Vulvar and Vaginal Evaluation

The introitus and vagina also warrant anatomic evaluation during puberty, particularly in those with a history of vaginal or introital surgery. While this can be completed in the office setting, many adolescents find these exams invasive, so examination under sedation may be warranted — though sedated examination has limitations, as it prevents patient feedback regarding pain and functional impact. An awake examination provides an opportunity for patient education about individual anatomy and increases bodily autonomy.

Assessment of the external genitalia includes visual inspection of the vulva, including the clitoris and clitoral hood; many patients with a persistent cloaca may have a shortened distance between the urethra and clitoris, which can impact catheterization and clitoral stimulation. The perineal body should be inspected and its length noted. A digital rectovaginal exam reveals the thickness of the pelvic floor musculature, particularly the bulbospongiosus and transverse perineal muscles, which are important for both defecatory and vaginal function. The diameter of the introitus should be measured and can be calibrated with Hegar or equivalent dilators; typical post-pubertal introital diameter is greater than 24F Hegar, or roughly two fingerbreadths. Compliance of the introitus should also be noted, and when a stricture is present, its compliance, location, and thickness can guide planning for dilation or operative intervention.

The goal of a vaginal examination is primarily to assess patency of the menstrual outflow tract, with secondary goals of assessing length, diameter, and compliance for anticipatory guidance on menstrual hygiene product use and penetrative vaginal intercourse. Vaginal exams should note the type of vaginal tissue (native versus graft), total vaginal length (typical adult length is 8 cm), presence/absence of a septum, presence of any stricture, and the number and location of cervices. Any noted strictures should be calibrated with Hegar or equivalent dilators, and stricture location, diameter, and compliance recorded. Deviation of the cervix is not diagnostic for a Müllerian anomaly on its own, but should raise concern for a unicornuate uterus and the potential for absent or obstructed Müllerian structures on the contralateral side.

Assessment can be performed with a speculum exam in select patients, though vaginoscopy may be preferred to minimize hymenal trauma and discomfort, and to avoid missing anomalies that can be obscured on speculum examination. Where sedated examination is not feasible and patients cannot tolerate a speculum, a limited exam with a lubricated cotton swab passed through the introitus to the point of resistance can assess vaginal length and patency. Any vaginal length <6 cm, or the presence of a vaginal bulge, should raise concern for a stricture or obstruction requiring further evaluation under sedation.

Management of Patients with an ARM at Puberty

Typical Anatomy

In patients with an ARM and typical gynecologic anatomy, annual gynecologic assessment is warranted to evaluate menses, ensure understanding of the anatomy, provide recommended cancer screening and vaccinations, and provide age-appropriate anticipatory guidance regarding gynecologic and obstetric function.

Non-Obstructive Gynecologic Anomalies

Non-obstructive anomalies of the uterus and cervix do not require surgical repair, and patients have typical menstrual functioning. It is important that patients are counseled regarding differences in their anatomy, as some non-obstructive anomalies carry higher reported rates of miscarriage, preterm labor, preterm delivery, fetal malpresentation, and need for cesarean section.

Vaginal septae: Non-obstructing vaginal septae can be resected at or after puberty to allow for comfortable menstrual hygiene product use or vaginal intercourse. A wedge resection of thin septae can be completed with electrocautery, but thicker septae require resection followed by mucosal re-approximation for hemostasis and to prevent granulation tissue. These procedures require sedation but not a hospital stay or post-operative vaginal stents/dilators. Pelvic rest is recommended for 2–4 weeks following the procedure, with return to school and work typically the next day.

Vaginal stenosis: Management depends on the location and degree of stenosis and the compliance of the stenotic tissue. The most common locations of stenosis in patients with an ARM are the introitus and the native vaginal-neovaginal anastomosis site. Pliable narrowing can often be treated with serial dilation in the operating room and/or patient-directed dilation at home; steroid injections into the stenotic tissue can aid dilation. For stenosis that does not respond to dilation, surgical intervention should be considered — depending on the length and location of the stricture, a simple scar release (Heineke-Mikulicz approach) may suffice, or a vaginoplasty with graft may be necessary. Post-operative dilation is required after stricturoplasty, so patient compliance should be assessed before undertaking operative repair.

Obstructive Gynecologic Anomalies

Obstructive anomalies require definitive surgical management; however, menstrual suppression with hormonal medication provides an opportunity to delay surgical intervention. Operative intervention should be completed if pain is not controlled with menstrual suppression, or when the patient expresses readiness for repair along with understanding of the required post-operative care. Assessment of patient readiness and thorough understanding of the procedure and post-operative care are crucial, and collaboration with psychology and pelvic floor physical therapy is recommended.

When patients present acutely with hematometrocolpos and pain, symptoms can be managed with pain control and menstrual suppression until resorption occurs, which can take days to weeks. Uncontrolled pain, difficulty voiding, or any signs of pyocolpos may require urgent decompression, completed transabdominally with US or CT guidance, or laparoscopically, potentially with interventional radiology collaboration. Administration of tissue-type plasminogen activator or heparin via a drain may help when the accumulated clot is difficult to aspirate. Drainage via the vagina is avoided due to the risk of ascending infection.

Definitive surgical management of obstructive anomalies of the uterus and cervix, such as uterine remnants and cervico-vaginal atresia, requires operative excision. Rare attempts at anastomosing uterine tissue with absent or dysgenic cervices to vaginal or neovaginal tissue have been reported, but high rates of infection, sepsis, and even death have limited this practice. The standard of care for dysgenic or absent cervical tissue is hysterectomy, which can be performed laparoscopically or robotically; an open abdominal incision may be necessary in patients with significant surgical history or known pelvic adhesions.

Management of obstructive vaginal anomalies depends on the thickness of the obstructed tissue and its distance from the introitus. When the obstructed tissue is >3 cm thick and/or more than 3 cm from the introitus, tissue grafts may be necessary to reduce rates of post-operative stricture. Patients with obstructive vaginal anomalies should be referred to a specialized center comfortable with neovaginal counseling and surgical techniques. Pre-operative counseling regarding graft preferences is important, as each graft has benefits and drawbacks, and post-operative care typically requires stents and long-term vaginal dilation to prevent re-obstruction. Pre-operative vaginal dilation may thin the vaginal septum or atretic portion, reduce the distance to the obstruction, and aid surgical reconstruction, potentially reducing the need for grafting.

Although the tissue type used for neovagina creation varies, most patients with a history of ARM who required a neovagina have historically received a bowel neovaginoplasty. Alternative techniques are becoming more common, particularly when neovagina creation or repair occurs post-pubertally. Neovaginoplasty can normalize the anatomy and create a tract for vaginal sexual activity in patients without Müllerian structures, or augment native vaginal tissue with insufficient length for a tension-free perineal anastomosis. In all patients with a neovagina and Müllerian structures, screening at or near menarche is necessary to ensure a patent menstrual outflow tract, given the risk of neovaginal stricture; if patency is confirmed, the exam should also assess neovaginal compliance, length, and diameter for menstrual hygiene product use and vaginal sexual activity.

There are no definitive guidelines for routine monitoring of neovaginal tissue, though concern has been raised about potential malignant transformation, particularly in neovaginas created with bowel or epidermal tissue. Any patient with bowel vaginoplasty should have visual inspection with possible biopsy in the event of copious vaginal discharge, irregular or post-coital bleeding, or vaginal pain. Benign discharge accumulating in the neovagina can be treated with vaginal saline irrigations as needed.

Menstrual Suppression Options

NameDoseFrequencyAssociated risks / side effectsNorethindrone acetate (Aygestin)5–15 mgDailyBreakthrough bleeding, headache, nausea, acne, weight gainCombined oral contraceptivesMultiple monophasic formulations; 30–35 mcg ethinyl estradiol preferredDaily continuous use (discard placebo pills, or choose a continuous-use formulation)Breakthrough bleeding, nausea, headache, venous thromboembolismDepot medroxyprogesterone acetate150 mg IM or 104 mg SQEvery 10–14 weeksIrregular bleeding, headaches, weight gain, decreased bone mineral density if used >2 yearsDepot leuprolide acetate*Variable regimens (IM or subdermal implant)Formulation-dependent: every 1, 3, 6, or 12 monthsDecreased bone mineral density, hot flashes or night sweats, headache

* Several GnRH agonist and antagonist alternatives are available in oral, injectable, and subdermal implant formulations and can be considered for menstrual suppression.

Timing of Post-Pubertal Management

Patients with an ARM may require additional operative procedures after puberty due to a gynecologic anomaly or complications following previous reconstructive surgery. Over 50% of patients with a persistent cloaca undergoing vaginoplasty in childhood are reported to need additional operative repairs for vaginal intercourse. Post-pubertal surgical management should consider patient readiness to perform pre- and post-operative care, which may include vaginal stents or dilators; in adolescents, dilations should be performed independently, without caregiver assistance. Given the interplay between gynecologic structures and body image, strong consideration for waiting on management until patients can meaningfully participate in decision-making should be emphasized, and patient autonomy prioritized, especially when vaginal grafts and dilation may be necessary.

Comprehensive Gynecologic Care

Annual gynecologic evaluation should be initiated at or near menarche for all patients with a history of an ARM, consistent with ACOG guidance for initiation of reproductive health visits between ages 13–15 for all adolescents. In centers without specialized gynecologic care, this evaluation can be completed by the annual care team, with referral to a specialist if needed.

Menstruation should be assessed for regularity, quantity of blood loss (duration of bleeding and number of products per day), and any dysmenorrhea symptoms. Although menses can be irregular for the first 1–3 years after menarche due to immaturity of the HPO axis, ongoing irregularity, prolonged menses, or secondary amenorrhea warrant further evaluation. Some dysmenorrhea is expected from physiologic prostaglandin release during menses; however, dysmenorrhea limiting participation in school or activities, with minimal improvement from over-the-counter analgesics, or extending before and after bleeding deserves further evaluation with, at minimum, a pelvic US. Prostaglandin release during menstruation can also alter bowel and bladder function, and patients with an ARM may need to alter bowel management or catheterization regimens during menses; keeping a menstrual symptom diary can assist with decision-making.

An annual assessment of gynecologic functioning in adolescents does not require external or internal gynecologic examination unless symptoms of vaginal discharge or vulvovaginal pain are reported. HPV vaccination is recommended for all patients. Cervical cancer screening is not recommended until ≥21 years old in most populations, including patients with an ARM; HPV vaccination, particularly prior to coitarche, has been shown to significantly reduce cervical cancer rates. Counseling regarding safe sexual activity, healthy relationships, and contraception should be emphasized to all patients.

In pediatric settings where a gynecologist is not readily accessible, any provider can complete a basic assessment of gynecologic functioning. Referral to a specialist is recommended for: heavy menstrual bleeding (>80 mL per period, or >1–2 pads per hour), prolonged periods lasting more than 10 days, progressive dysmenorrhea or dysmenorrhea limiting participation in school or activities, and persistent irregular periods, especially >4 months of amenorrhea.

Comprehensive gynecologic health care includes close attention to assessment of the Müllerian anatomy, thorough screening for menstrual outflow obstruction, and prioritization of the patient's needs, readiness, and autonomy. Access to routine gynecologic care is a mainstay of ARM care for the adolescent and helps optimize long-term gynecologic and sexual health outcomes.