Vaginal agenesis or distal vaginal atresia associated with anorectal malformations

doi:10.1016/j.jpedsurg.2011.09.040

Journal of Pediatric Surgery

Volume 47, Issue 3, March 2012, Pages 571-576

https://doi.org/10.1016/j.jpedsurg.2011.09.040 Get rights and content

Abstract

Background

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. The MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe 7 girls with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the literature.

Methods

Seven patients with vaginal agenesis or distal vaginal atresia and anorectal malformation were operated on at 3 pediatric surgical centers in Madrid, Helsinki, and Stockholm. Case records were reviewed, and the previous literature was searched.

Results

Six patients had a reconstruction of the anorectum and vagina during the first year of life. In one case, the vagina was replaced at the time of a redo posterior sagittal anorectoplasty at the age of 11 years. The 4 patients with vaginal agenesis had a sigmoid colovaginoplasty. The 3 patients with a distal vaginal atresia had a vaginal pull-through. Four of the patients needed laxatives or enemas for mild constipation at last follow-up. Short-term gynecologic problems were minor in all patients.

Conclusion

Vaginal reconstruction at the time of anorectoplasty results in good short-term outcome. For vaginal agenesis, a primary colovaginoplasty is suggested to be the preferred technique to replace the vagina.

Section snippets

Background

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by Müllerian aplasia and a normal 46,XX karyotype. Except for vaginal agenesis, the uterus is hypoplastic, usually with 2 horns, or absent, and the fallopian tubes are rudimentary. As an isolated malformation, the condition is described as MRKH type 1 (OMIM 277000). The underdevelopment of Müllerian structures is often associated with renal aplasia or ectopia. Occasionally, cervicothoracic somite anomalies are encountered. In cases

Methods

Seven patients with anorectal malformations and vaginal agenesis or distal vaginal atresia were treated at 3 large European pediatric surgical centers: Hospital Universitario La Paz, Madrid, Spain; Helsinki University Children's Hospital, Helsinki, Finland; and Karolinska University Hospital, Stockholm, Sweden. Patients with cloacas and associated vaginal abnormalities were not included in the study. The type of anorectal malformation, type of Müllerian duct anomaly, associated malformations,

Results

Case 1 to 7 are summarized in Table 1.

Discussion

Total vaginal agenesis is the most common finding in previously reports of anorectal malformations with absent vaginal opening. A smaller number presented with a distal vaginal atresia, as three of our cases. Vaginal agenesis is not the same entity as distal vaginal atresia, although the conditions are often discussed in the same context. By definition, MRKH syndrome is characterized by Müllerian aplasia with vaginal agenesis and rudimentary uterus and fallopian tubes. In the distal vaginal

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An approach to giant neonatal hydrocolpos with normally sited anus – Diagnosis and management including a novel one stage operation
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Giant non cloacal neonatal hydrocolpos is a rare entity where early recognition of the underlying cause and drainage of the distended vagina is paramount. Conventionally, immediate management has been by abdominal tube vaginostomy or, in urogenital sinus by vaginal clean intermittent catheterisation (CIC). Though effective in providing temporary relief, the abdominal tube vaginostomy is replete with complications, making it imperative to search for alternatives. Here we describe our method of emergent and definitive management of these children, where definitive repair, depending on the aetiology, has been made possible in a single stage.
Seven girls who presented primarily or with history of giant non cloacal neonatal hydrocolpos at two tertiary care centres from January 2013 to March 2021 were studied retrospectively. None had imperforate anus or a bulging hymenal membrane. Four had high vaginal atresia (VA) and three had Urogenital sinus (UGS), one with high confluence.
Four girls (2 VA, 2 UGS) presented to us as neonates and were managed by emergency drainage procedures other than tube vaginostomy: CIC in one (low UGS) and a novel abdominoperineal U flap vaginoplasty in three (2 VA, 1 high confluence UGS) which was also the definitive procedure. This procedure involved fashioning an inferiorly based inverted U flap from the posterior wall of distended vagina which is tubularised and flipped down by an abdomino-perineal procedure. The girl with a low UGS later underwent a perineal procedure.
Three presented elsewhere as neonates (2 VA, 1 UGS) and had abdominal tube vaginostomy as the emergency drainage procedure. This was complicated by tube dislodgement and pyocolpos till successful reconstruction was performed by us. Successful reconstructions included the abdominoperineal U flap vaginoplasty in one (VA) and a perineal procedure in another (low UGS). One girl with high VA had an inflamed vagina after tube vaginostomy, precluding the U flap vaginoplasty, and underwent abdominal vaginal mobilisation and pull through complicated by partial vaginal necrosis with septic complications.
Reconstruction resulted in a patent and a good calibre neo-vagina in all at a mean follow up of 48 months.
Immediate management of giant non cloacal neonatal hydrocolpos may either be vaginal CIC or a surgical procedure. The abdomino-perineal U flap vaginoplasty is a one stage neonatal procedure that provides effective drainage and forms a definitive neo-vagina. An abdominal tube vaginostomy can be avoided except where neonatal surgical expertise is unavailable.
Prevalence of urinary, prolapse, and bowel symptoms in Mayer-Rokitansky-Küster-Hauser syndrome
2021, American Journal of Obstetrics and Gynecology
Citation Excerpt :
In addition, high rates of lower urinary tract symptoms (LUTS) and reports of de novo prolapse following certain surgical VL procedures have been described.2–4 Only a few case series have described bowel symptoms among individuals with MRKH syndrome.5,6 Although small case series and anecdotal reports suggest that individuals with MRKH syndrome experience various pelvic floor symptoms, the prevalence of these symptoms and how they relate to VL treatment history have not yet been comprehensively assessed in a large cohort.
Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome, occurs in 1 in 4500 to 5000 individuals assigned female sex at birth. Pelvic floor symptoms among individuals with Mayer-Rokitansky-Küster-Hauser syndrome have not been well studied, and it is unknown how vaginal lengthening treatments affect these symptoms.
This study aimed to assess urinary, prolapse, and bowel symptoms in individuals with Mayer-Rokitansky-Küster-Hauser syndrome and to determine whether symptoms vary by vaginal lengthening treatment.
We conducted a cross-sectional study in 2019 using an online survey distributed by the Beautiful You MRKH Foundation via social media to individuals with Mayer-Rokitansky-Küster-Hauser syndrome. Demographics, age at and timing of diagnosis, information about vaginal lengthening treatment, urinary symptoms (Michigan Incontinence Symptom Index), prolapse symptoms (Pelvic Organ Prolapse Distress Inventory short-form version), and bowel symptoms (Bristol Stool Form Scale) were obtained. The inclusion criteria included self-reported diagnosis of müllerian agenesis and female sex. Respondents with a history of renal transplant or dialysis, completion of <85% of the survey, and non-English survey responses were excluded. Descriptive analyses were used to describe the sample population. Logistic regression, Kruskal-Wallis, and Fisher exact tests were used to compare the prevalence of pelvic floor symptoms and vaginal lengthening treatments. Associations between age and genitourinary symptoms were investigated with Spearman correlations.
Of 808 respondents, 615 met the inclusion criteria, representing 40 countries. 81% of respondents identified as white. The median age of the participants was 29 years (interquartile range, 24–36), with a median age at diagnosis of 16 years (interquartile range, 15–17). Among the 614 respondents, 331 (54%) had vaginal lengthening treatment, 130 of whom (39%) had undergone surgical vaginal lengthening. Of individuals with Mayer-Rokitansky-Küster-Hauser syndrome, 428 of 614 (70%) reported having had one or more urinary symptoms, and 339 of 428 (79%) reported being bothered by these symptoms. Urinary symptoms included urinary incontinence (210 of 614 [34%]), urinary frequency (245 of 614 [40%]), urinary urgency (248 of 614 [40%]), pain with urination (97 of 614 [16%]), and recurrent urinary tract infections (177 of 614 [29%]). Prolapse symptoms included lower abdominal pressure (248 of 612 [41%]), pelvic heaviness or dullness (177 of 610 [29%]), and vaginal bulge (68 of 609 [11%]). In addition, constipation was reported by 153 of 611 respondents (25%), and anal incontinence was reported by 153 of 608 (25%) respondents. Beside recent urinary incontinence (P=.003) and anal incontinence (P<.001), the prevalence of pelvic floor symptoms (P>.05) did not differ significantly between those with and without vaginal lengthening. Among those with surgical vaginal lengthening, symptomatic vaginal bulge was highest in individuals who underwent a bowel vaginoplasty procedure.
Urinary, prolapse, and bowel symptoms are common among individuals with Mayer-Rokitansky-Küster-Hauser syndrome and should be evaluated in this population. Overall, compared with no vaginal lengthening treatment, having vaginal lengthening treatment is not associated with substantial differences in the prevalence of pelvic floor symptoms, with the exception of recent urinary incontinence and anal incontinence. Our data suggested that bowel vaginoplasty may be associated with greater symptoms of vaginal bulge. More robust studies are needed to determine the impact of various vaginal lengthening treatments on pelvic floor symptoms.
Neuroendocrine tumor in the vaginal reconstruction of a patient with Mayer-Rokitansky-Küster-Hauser syndrome and anorectal malformation
2021, Journal of Pediatric Surgery Case Reports
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome occurring in association with an anorectal malformation (ARM) is rare but well described (Wester et al., 2012) [1]. In some patients with MRKH and ARM, a rectovestibular fistula may be left in situ as a neovagina [2,3]. Previously, adenocarcinomas arising in vaginal reconstructions have been reported, however neuroendocrine tumors (NET) have not been previously described in this setting [4,5]. We describe the case of a patient with MRKH associated with ARM that developed a neuroendocrine tumor of the neovagina constructed in infancy from a rectovestibular fistula. She was immunosuppressed following a living related kidney transplant at age 11. At age 20, vaginal bleeding was noted. A 1.5 cm neuroendocrine tumor was found on the anterior vaginal wall and she underwent a complete full-thickness transvaginal resection. The management considerations for neuroendocrine tumors of the neovagina are discussed.
Vaginal reconstruction using ileum segment and posterior sagittal anorectoplasty in a patient with Mayer–Rokitansky–Küster–Hauser syndrome with anorectal malformations: A case report
2021, International Journal of Surgery Case Reports
Vaginal agenesis with anorectal malformations is a complex pediatric condition that adversely affects various physiological processes in the body. It may cause disturbances in defecation and urination, abnormalities in the urinary and gastrointestinal tract, dysfunction of the genital and reproductive organs, and sexual function disorders. The complexity in the surgical management of vaginal agenesis includes the selection of a functional reconstruction technique for anal and vaginal formation, timing of the reconstruction, and management of complications in the associated organ system.
Herein, we describe a patient with Mayer–Rokitansky–Küster–Hauser syndrome accompanied by a rectovesical fistula. Other abnormalities, such as microcephaly, polydactyly, long urethral abnormalities resembling the male urethra, and complications in the kidney and urinary tract, were observed in the patient. The associated complications included recurrent urinary tract infections, urinary overflow incontinence, vesicoureteric reflux, hydroureter, and left renal hydronephrosis. The patient underwent posterior sagittal anorectoplasty surgery and vaginal reconstruction. The long-term vaginal physiological development of patients with this condition remains unknown.
Mayer-Rokitansky-Küster-Hauser Syndrome with a Solitary Duplex Kidney and Anal Stenosis: Report of a Rare Case
2021, Journal of Pediatric and Adolescent Gynecology
To date, only 23 cases of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with duplex kidney have been reported. We present the first reported case of MRKH syndrome with solitary duplex kidney and anal stenosis.
A 17-year-old Chinese girl presented with primary amenorrhea and fully developed secondary sex characteristics. Ultrasonography of the abdomen and pelvis revealed the absence of the right kidney, a left duplex kidney, and a primordial uterus. Surgery for anal stenosis was performed when she was 1 year of age. The patient had a normal 46, XX karyotype.
Clinical urologic and urodynamic outcomes in patients with anorectal malformation and absent vagina after vaginal replacement
2020, Journal of Pediatric Surgery
Anorectal malformations (ARMs) represent a complex spectrum of anorectal and genitourinary anomalies and a paucity of evidence is available on long-term urologic outcomes in all ARM subtypes. It was our subjective bias from being a referral center for ARM patients that the subtype of rectovestibular fistula and absent vagina had higher risk of renal and bladder abnormalities than typical rectovestibular fistula patients. Therefore, to confirm or refute our clinical suspicions, the purpose of this study was to review this specific cohort of ARM patients and describe both the clinical urological and urodynamic outcomes.
A retrospective cohort study was performed for 120 patients who were treated for ARM and vaginal replacement at our institution between 1991 and 2017. Fifteen patients with rectovestibular fistula and absent vagina were included in our review. Demographic and clinical data were abstracted from their medical records, including urodynamic findings, need for clean intermittent catheterization (CIC), urinary continence, and renal function.
Vaginal replacement surgery was undertaken concomitantly with ARM repair in 10 of the 15 patients (67%). One patient was lost to follow up, and mean follow up postoperatively was 39 months. In all but one patient, rectum or colon was used as the substrate for vaginal replacement. Of the 15 patients, 13 had continence data available. A total of 10 patients (77%) were able to achieve social continence. Overall six patients used CIC to manage their bladder and 40% of continent patients used CIC. Urinary continence outcomes in patients who had partial vaginal replacement compared to those with total vaginal replacement did not reveal a clinically significant difference. Continence was achieved in 3/4 patients (75%) with a history of tethered cord compared to 7/9 patients (78%) without a history of tethered cord release. Urodynamics were performed postoperatively in 7 of the 157 patients (47%). Uninhibited detrusor contractions (UDCs) were present in 3 out of 7 patients, and a cystometric capacity greater than expected was noted in 4 patients. Additionally, 2 patients had end filling detrusor pressure greater than 40 cm H2O. GFR data were available for 13 of the 15 patients and (85%) were classified as chronic kidney disease (CKD) stage I or not having any significant loss of renal function.
In this cohort of rectovestibular fistula and absent vagina, 77% reported achieving urinary continence. However CIC was employed in 40% of the patients which is higher than prior published noncloaca female ARM patient population. Urodynamic abnormalities were noted when performed and led to change in bladder management. Renal function measured with GFR was normal in 85%. Patients with rectovestibular fistula and absent vagina benefit from urologic screening given higher rates of lower urinary tract dysfunction that can require CIC to protect the upper urinary tract and achieve urinary continence.
Case series.
Level IV.

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Original articleVaginal agenesis or distal vaginal atresia associated with anorectal malformations

Abstract

Background

Methods

Results

Conclusion

Section snippets

Background

Methods

Results

Discussion

J Pediatr

Semin Pediatr Surg

J Pediatr Surg

J Pediatr Surg

J Pediatr Surg

J Urol

J Pediatr Surg

J Pediatr Surg

J Pediatr Surg

J Pediatr Surg

J Pediatr Surg

J Pediatr Surg

Eur J Obstet Gynecol Reprod Biol

J Urol

J Urol

Original article
Vaginal agenesis or distal vaginal atresia associated with anorectal malformations