Introduction, prevalence, and epidemiology
Similar to nonobstructive reproductive tract anomalies, approximately 7% of those born with female reproductive anatomy will have differences in the formation of the reproductive tract, resulting in varying degrees of vaginal, uterine, or cervical development. Unfortunately, no distinct numbers exist regarding the percentage presenting with an obstructive versus nonobstructive reproductive tract anomaly. These anomalies occur based on their derivation from the müllerian ducts or from the urogenital sinus. Most women will present at the time of puberty, during delivery, or during an infertility workup. Earlier diagnosis may occur because of incidental findings of these conditions during the course of a workup for a urologic or spinal condition or during the course of evaluation for a syndrome. Referral to a specialist familiar with diagnosing and managing these conditions is important for the best outcomes.
Pathophysiology of disease and embryology
Please see this section in Chapter 26 .
Relevant testing for obstructive reproductive tract anomalies
The most important testing for these anomalies relies on physical examination, followed by pelvic ultrasound and pelvic magnetic resonance imaging (MRI).
Definition and clinical presentation
Cervicovaginal atresia and cervical dysgenesis
Patients born with cervicovaginal atresia typically have a small or normal-sized uterine body with the complete or partial absence of the cervix and vagina, which occurs by vacuolization of the paramesonephric tissue and may occur because of defects in canalization or defects in vertical development ( Fig. 27.1 ).
Prevalence and epidemiology: 1/80,000 to 100,000
Testing relevant to condition: Pelvic ultrasound and pelvic MRI
Manifestations of disease: Normal pubertal development and primary amenorrhea in the setting of pelvic pain that progressively worsens.
Clinical presentation and examination: Patients are likely to present early after the onset of (cryptic) menarche because the uterus quickly becomes distended leading to pain. Upon initial presentation, a blind-ending vaginal dimple will be noted with no mass (hematocolpos) appreciated on digital rectal examination. In rare cases, a vagina may have developed without development of the cervix in between. No bulge will be seen or palpable at the level of the vagina (see Fig. 27.2 ).
Fig. 27.2
Depiction of cervicovaginal agenesis with hematometra.
(Figure developed with Biorender and permission granted by JE Dietrich.)
Imaging: An ultrasound should be obtained followed by an MRI to help confirm the diagnosis. It is important to confirm the absence of cervical stroma on imaging, as the current counseling on management is quite different in the presence or absence of a cervix ( Fig. 27.3 ).
Fig. 27.3
MRI demonstrating hematometra and sagittal view of cervical agenesis. Note that the obstruction in above the level of the pubis.
(Permission granted by JE. Dietrich.)
Differential diagnosis: Includes complete müllerian aplasia, complete androgen insensitivity, lower vaginal atresia, and transverse vaginal septum and is often misdiagnosed as imperforate hymen.
Management/treatment options: Historically, patients with cervicovaginal atresia have been counseled on the recommendation for removal of the uterine body. Menstrual suppression can be used until the patient is ready to have definitive surgery, so there is no urgency to remove this remnant right away. This is related to reports of high rates of complications with attempts to create a cervix and vagina, including death. More recently, techniques have been described with successful creation of a neocervix and neovagina. The best review of varieties of cervical types is from John Rock and colleagues. This paper echoed the many different types that clinicians may encounter but attempts at unification have not improved obstetric outcomes. Therefore removal of the uterine remnant is recommended if patients fail menstrual suppression. This can be done laparoscopically or through an open laparotomy approach. Patients who undergo removal of the uterine body may be candidates for uterine transplant in the future. At this time, uterine transplant has also been well described for women with uterine factor infertility, but outcomes are limited, and in some countries, this remains an experimental procedure. ,
Essentials of diagnosis and key treatment considerations:
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Clinical presentation of cyclic pelvic pain without menses.
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Examination reveals a blind-ending vaginal dimple in the setting of normal pubertal characteristics for cervicovaginal atresia.
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There may be variable vaginal and cervical development in cases of cervical dysgenesis.
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MRI of the pelvis confirms hematometra without hematocolpos or vaginal distension.
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See Chapter 26 on nonobstructive reproductive tract anomalies addressing treatment options for vaginal creation.
Obstructed hemivagina with ipsilateral renal anomaly
Patients born with obstructed hemivagina with ipsilateral renal anomaly (OHVIRA) have a müllerian anomaly resulting in uterine and cervical duplication and a partially formed longitudinal vaginal septum that has obstructed the outflow of one cervix ( Fig. 27.4 ). , ,
Prevalence and epidemiology: Not known, but estimated to be between 0.16% and 10%
Relevant testing: Pelvic ultrasound, pelvic MRI, and examination
Manifestations of disease: A patient with OHVIRA will present with the onset of menarche at a typical age but will note progressively worsening dysmenorrhea. They may also complain of urinary and/or bowel symptoms. Patients with a perforation in the obstructing septum will often present in a delayed fashion.
Clinical presentation and examination: Patients present with normal puberty, having regular periods, but usually dysmenorrhea gets progressively worse, as one side is obstructed as it fills with menses (depending on the thickness of the septum and whether located in the lower, middle, or upper third of the vagina). Occasionally, these patients may experience constipation or urinary hesitancy.
Some may present with a microperforation of the obstructed longitudinal vaginal septum, in which case they may not experience pelvic pain, but rather vaginal discharge, prolonged periods, spotting, or watery discharge. On physical examination a normal introitus and vaginal opening are noted. One may be able to appreciate a vaginal bulge from one side if the level of obstruction is distal within the vagina. One will not appreciate a one-sided bulge if the obstruction is in the middle or upper vagina. A bulge will be palpable on one side and a single cervix palpated on the unobstructed side. For the patient unable to undergo a vaginal examination, a rectal examination may be performed to assess the level of obstruction instead. In addition, a vaginoscopy under anesthesia may be performed to determine the location just before surgical repair. This can be very useful in the situation where a microperforation is suspected, given the vaginoscopy can help magnify any small perforated areas ( Fig. 27.5 ). ,
Fig. 27.5
Vaginoscopy demonstrating a microperforation in the obstructed vaginal septum.
(Permission granted by JE Dietrich.)
Imaging: An ultrasound should be obtained followed by an MRI to help confirm the diagnosis, the thickness of the vaginal septum, and the level of obstruction on the affected side ( Fig. 27.6 ). In addition, MRI can help determine if there is an ipsilateral ectopic ureter draining to the obstructed hemivagina. Ultrasound gel or surgical lubricating jelly can be placed into the patent vagina to better delineate the obstructed septum.
Fig. 27.6
MRI demonstrating coronal view of uterine didelphys with obstructed left hemivagina.
(Permission granted by JE. Dietrich.)
Differential diagnosis: May be misdiagnosed as imperforate hymen or transverse vaginal septum. Uterine anatomy may be misdiagnosed with bicornuate or septate uterus.
Management/treatment options: In rare circumstances, these patients may have been diagnosed at an early age during a workup for a solitary kidney. Affected patients can see a pediatric and adolescent gynecologist earlier for anticipatory guidance on puberty and menarche. Interventions are typically not performed until menarche to optimize systemic estrogen levels, which promote vaginal healing and prevent stenosis. More commonly, patients are diagnosed secondary to progressively worsening abdominal pain with menses. Treatment involves excision of the obstructed longitudinal vaginal septum on the affected side, the same side on which the kidney is dysgenetic, malpositioned, or absent. Once the septum is excised, vaginoplasty, much like longitudinal vaginal septum excision, is performed by anastomosing the right and left sides of the vagina in the area where the two hemivaginas branch off separately. , , , , ,
Essentials of diagnosis and key treatment considerations:
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Progressively worsening pelvic pain with menses.
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History of prolonged spotting after menses without pelvic pain symptoms, which brings about concern for an obstructed longitudinal vaginal septum with microperforation.
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History of vaginal discharge without pelvic pain symptoms, which brings about concern for an obstructed longitudinal vaginal septum with microperforation.
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History of solitary kidney, dysgenetic kidney, or renal anomaly.
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On vaginal examination a single cervix may be visualized or palpated with bulging of the left or right hemivagina, depending on the side obstructed. The side obstructed will be ipsilateral to the renal anomaly.
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MRI of the pelvis confirms uterine didelphys with hematometrocolpos caused by an obstructed hemivagina on the left or right.
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In the situation of microperforation, MRI will demonstrate a uterine didelphys, but may not show hematometrocolpos. In this circumstance an examination under anesthesia with vaginoscopy may help pinpoint the site of microperforation.
Lower (distal) vaginal atresia/agenesis
Patients born with lower vaginal atresia fail to develop the lower portion of the vagina. Typically, patients will have cyclic pain that may eventually become more constant. They may also experience urinary retention and difficulty with defecation. On examination a typical vaginal introitus is not seen. Rectal examination reveals a palpable mass in the vagina consistent with hematocolpos. An ultrasound can confirm the presence of the hematocolpos, but an MRI is recommended to better understand the distance from the leading edge of the vagina to the perineum ( Figs. 27.7 and 27.8 ). ,
Prevalence/epidemiology: Not known
Relevant testing: Pelvic ultrasound, pelvic MRI, and examination
Manifestations of disease: Normal pubertal development, cyclic pelvic pain over time with progressive worsening depending on the distance the atretic vagina is from the perineum.
Clinical presentation and examination: A vaginal dimple is seen with a less prominent vaginal bulge in cases where the obstruction is high or proximal and a more prominent bulge when the level of obstruction is low or distal. The tissue will appear pale pink and will not have a blue hue. For patients unable to tolerate a vaginal examination, a rectal examination may be performed to assess the level of obstruction instead.
Imaging: Pelvic ultrasound and pelvic MRI will demonstrate a hematometrocolpos that ends blindly with a curvature in the pelvis a variable distance from the perineum ( Fig. 27.8 ).
Differential diagnosis: Includes complete müllerian aplasia, complete androgen insensitivity, transverse vaginal septum, and cervicovaginal atresia and is often misdiagnosed as imperforate hymen
Management/treatment options: Historically patients with lower vaginal atresia will undergo a vaginal pull-through procedure (see Fig. 27.9 ). When the distance from the perineum is 3 cm or less, a simple pull-through may be accomplished, whereby the surgeon pulls the vagina to the correct, more distal location and normal outlet position. When the distance of the atretic portion of the vagina is greater than 3 cm from the hidden hematocolpos to the perineum, two possible solutions exist. The first is to suppress the patient with hormones until the patient has reached maturity to undergo self-vaginal dilation. This allows for the patient to dilate the vaginal dimple to then meet the upper, obstructed vagina. Then the two vaginal portions can be anastomosed proximally to distally. Alternatively, another tissue graft may be used to bridge this distance.
In either circumstance, when this distance spans >3 cm, there is a risk for subsequent vaginal stenosis, requiring dilation, modification, or reoperation. , , ,
