ACOG Committee Opinion. Number 274, July 2002. Nonsurgical diagnosis and management of vaginal agenesis

Vaginal agenesis occurs once in every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which is also referred to as müllerian aplasia, müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome. The condition usually can be managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. Besides correct diagnosis, effective management also includes evaluation for associated congenital, renal, or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation.     

ACOG Committee Opinion No. 355: Vaginal agenesis: diagnosis, management, and routine care

Vaginal agenesis occurs in 1 of every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which also is referred to as müllerian aplasia, müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome. The condition usually can be successfully managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. Besides correct diagnosis, effective management also includes evaluation for associated congenital renal or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation. Women who have a history of müllerian agenesis and have created a functional vagina require routine gynecologic care and can be considered in a similar category to that of women without a cervix and thus annual cytologic screening for cancer may be considered unnecessary in this population.     

Management of Hematometra and Hematocolpos in Obstructive Mullerian Anomalies by Image-Guided Drainage with Interventional Radiology: A Multi-Institutional Case Series

Study ObjectiveTo describe cases of image-guided drainage of symptomatic hematometrocolpos from obstructive Müllerian anomalies as a temporizing measure to manage acute pain symptoms and delay definitive management of the obstructive Müllerian anomalies that require complex reconstructionMethodsInstitutional Review Board exemption from all included institutions was obtained. A retrospective case series from 3 academic children's hospitals of 8 females under the age of 21 with symptomatic hematometrocolpos due to obstructive Müllerian anomalies drained by image-guided percutaneous transabdominal vaginal or uterine drainage with interventional radiology was reviewed and described.ResultsEight pubertal patients with obstructive Müllerian anomalies (6 patients with distal vaginal agenesis, 1 patient with an obstructed uterine horn, and 1 patient with a high obstructed hemi-vagina) and symptomatic hematometrocolpos are reported. All patients with distal vaginal agenesis had greater than 3 cm lower vaginal agenesis, which would usually require complex vaginoplasty and use of postoperative stents. Given their immaturity and inability to use stents or dilators postoperatively or medical complexity, they subsequently underwent ultrasound-guided drainage of hematometrocolpos with interventional radiology to relieve pain symptoms, followed by menstrual suppression. The patients with obstructed uterine horns had complex medical and surgical histories requiring perioperative planning; they also underwent ultrasound-guided drainage of hematometra as a temporizing measure to manage acute symptoms.ConclusionPatients presenting with symptomatic hematometrocolpos due to obstructive Müllerian anomalies might not be psychologically mature enough to undergo definitive complex reconstruction, which requires vaginal stent or dilator use postoperatively to prevent stenosis and other complications. Image-guided percutaneous drainage of symptomatic hematometrocolpos serves as a temporizing measure by offering pain relief until patients are ready to undergo surgical management and/or to allow time for complex surgical planning.     

Treatment of congenital malformations

The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.     

Typical form of Mayer-Rokitansky-Küster-Hauser syndrome and ectopic kidney. A rare association

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a spectrum of Müllerian anomalies characterized by congenital vaginal aplasia and absent uterus or a rudimentary one in female subjects with normal endocrine status. The ovaries and fallopian tubes are present. The prime feature is a primary amenorrhea in women presenting normally developed secondary sexual characteristics and normal external genitalia. The etiology remains unknown. This syndrome is subdivided in two types. It may be isolated (type I) or associated with other malformations (type II). Type I is less frequent than type II. We report a case of MRKH syndrome in a 21-year-old woman who presented a primary amenorrhea studied with transabdominal and pelvic ultrasonography and pelvic magnetic resonance, which demonstrated a complete agenesis of uterus, a functional cyst in the right ovary, and a left pelvic ectopic kidney. We studied the MRKH syndrome with review of the literature.     

Magnetic resonance imaging visualization of a vaginal septum

Magnetic resonance imaging is considered the gold-standard imaging technique in cases of Müllerian and vaginal anomalies, however, vaginal delineation often proves difficult, owing to the fact that vaginal walls are normally collapsed and in close proximity. Instilling gel through the introitus allows for better depiction of the distal vagina.     

Magnetic resonance imaging in müllerian fusion defects.

MRI may replace laparoscopy in the workup of many women with uterine anomalies because of its ability to optimally distinguish the shape of the fundal contour (differentiating septate and bicornuate uteri) as well as to delineate uterine, cervical and vaginal components. Other anomalies, such as unicornuate uterus and uterus didelphis, concealed hemorrhage within noncommunicating horns, müllerian or cervical agenesis, and vaginal septa, are also well defined by MRI. For patients with uterine or vaginal septa, MRI can set the stage for a definitive diagnosis and more informed preoperative patient preparation. Moreover, since many of the other conditions are not amenable to surgery, MRI can mean the avoidance of otherwise purely diagnostic surgery.     

Partial Cervical Agenesis and Complete Vaginal Atresia

BackgroundThe objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center.CasesTwo patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized.Summary and ConclusionPartial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal.     

Müllerian anomalies

Müllerian anomalies are a relatively uncommon occurrence with implications for adolescents and adults as they may result in specific gynecologic, fertility, and obstetrical issues. The exact incidence of Müllerian anomalies is difficult to ascertain. However, clinicians should be suspicious for Müllerian anomalies in cases of primary amenorrhea, pelvic pain, repetitive pregnancy loss, and certain adverse obstetrical outcomes. While for many women a good reproductive outcome can be achieved, counseling, and in particular psychologic counseling, may be needed for some women, especially those with lesions that preclude childbearing and affect normal sexual function.     

Müllerian dysgenesis: a review of recent outcomes at Royal Hospital for Women

BACKGROUND: Müllerian dysgenesis occurs in approximately 1 in 5000 live-born females. There have been many methods described for creation of a functionally useful vagina in cases of Müllerian dysgenesis. Given the number of available methods and the infrequency of the condition, outcome data can be difficult to obtain. AIM: To perform a retrospective review of presentation, treatment and outcomes in cases of Müllerian dysgenesis seen at the adolescent gynaecology unit at the Royal Hospital for Women, Sydney. METHODS: Thirty women with Müllerian dysgenesis were identified between January 2000 and December 2004. Of these, 23 had Müllerian agenesis and seven had partial vaginal agenesis. As this audit and review conform with the standards established by the National Health and Medical Research Council for ethical quality review, ethics approval was not sought. RESULTS: Dilator therapy under the guidance of a trained clinical nurse educator was successful in creating a functionally useful vagina and was well tolerated in all cases of Müllerian agenesis. Patients suffering from segmental vaginal agenesis all had surgical creation of a neovagina with the aid of an amnion vaginoplasty. All patients who were referred following surgical drainage of their haematocolpos outside the unit became infected and needed to undergo further surgery prior to creation of a neovagina. Fibrotic vaginal bands developed only in these patients. CONCLUSION: The outcomes reinforce the TASPAG guidelines of management for Müllerian dysgenesis, which suggest that dilators are generally effective in creating a functionally useful vagina, and if surgery is required, the primary operation should be definitive and performed by well-trained experts.     

Vaginal agenesis, the hymen, and associated anomalies

Study ObjectivesReview anomalies in patients with vaginal agenesis. In particular, to clarify the impact of an absent hymen on the presence of other anomalies; on the success of creating a vagina with dilators; and on sexual function outcomes.DesignRetrospective medical record review; questionnaire on sexual function.SettingGynecology service at a children’s hospital and the practice of 1 gynecologist.ParticipantsAll patients with vaginal agenesis were identified from the databases, as well as the subgroup in which hymenal status was known.Outcome MeasuresData regarding hymen, renal, skeletal, cardiac, and other anomalies; for women who had a neovagina, the technique used to create a functional vagina.ResultsOf 69 females (age range 2–70 years), renal tract anomalies (43.3%), vertebral anomalies (29%), cardiac anomalies (14.5%), and syndromes including Klippel-Feil (7%) and MURCS association (7%) were identified. Where hymenal status was known (n = 47), 31 were normal, and 16 had an absent hymen. Where the hymen was absent, renal agenesis was increased (odds ratio = 13.5, P < .001). There was no association between other anomalies and an absent hymen, or between the various anomalies. For women without a hymen, the likelihood of failing dilation therapy was increased (odds ratio = 21.7; P < .01].ConclusionAn absent hymen makes renal agenesis more likely and increases the likelihood that dilator techniques will fail. This condition appears to be associated with reports of long-term problems with poor lubrication that are potentially related to the absence of the peri-hymenal Bartholin’s glands.     

Successful Pregnancy Following Surgery in the Obstructed Uterus in a Uterus Didelphys with Unilateral Distal Vaginal Agenesis and Ipsilateral Renal Agenesis: Case Report and Literature Review

SynopsisAfter surgical correction of unilateral distal vaginal agenesis, the obstructed didelphic uterus was able to harbor 2 subsequent pregnancies.BackgroundThere was a congenital anomaly syndrome of uterus didelphys, unilateral distal vaginal aplasia, and ipsilateral renal aplasia. Intuition suggests that later pregnancy would be in the unobstructed uterus.ObjectiveThe purpose is to report pregnancy occurring twice in a previously obstructed didelphic uterus after surgical correction.CaseA girl aged 13 years, 8 months presented with the syndrome of didelphic uterus, upper right hematocolpos, and right renal aplasia. Right vaginal marsupialization was done. Subsequently, she had 2 pregnancies in the right didelphic uterus.ConclusionPregnancy occurred in the obstructed uterus despite a large hematometra, extensive right pelvic peritoneal endometriosis, and hematocolpos. The surgeon should make every effort to preserve the obstructed uterus.     

Presenting and long-term clinical implications and fecundity in females with obstructing vaginal malformations

OBJECTIVE: To evaluate presenting and long-term clinical consequences in females with obstructing vaginal anomalies. DESIGN: A retrospective study. SETTING: A university hospital in southern Finland. PARTICIPANTS: Twenty-six females with obstructing vaginal malformations. The conditions were classified into transverse vaginal obstruction (transverse septum or imperforate hymen) and longitudinal vaginal obstruction (longitudinal vaginal septum). INTERVENTIOS: 13 out of 16 women with transverse vaginal obstruction underwent incision of the imperforate hymen and three underwent excision of a complete transverse vaginal septum. Ten patients with obstructing hemivagina had incision of the longitudinal vaginal septum. MAIN OUTCOME MEASURES: Presenting symptoms and delay in diagnosis, outcome of primary surgical treatment, possible late complaints associated with obstruction, fecundity, perinatal outcome, and presence of other anomalies were studied. The mean followup period in the transverse and longitudinal obstruction group respectively was 13 years (range 1-29) and 16 years (range 1-44). RESULTS: Transverse vaginal obstructions were diagnosed within less than a month from the primary symptoms, while the diagnosis of longitudinal obstruction was delayed for an average of 27 months. Two out of three females with transverse vaginal septum underwent re-operation for vaginal constriction and three out of 10 with longitudinal vaginal septum had re-excision of the septum. All females with longitudinal obstruction had uterine and renal malformations as opposed to those with transverse vaginal obstruction. In the transverse vaginal obstruction group, two out of the six females who had their renal status assessed had double ureters. Dysfunctional uterine bleeding (19% in the transverse and 40% in the longitudinal obstruction group), dyspareunia (30% and 0%) and dysmenorrhea (19% and 20%) were the most common complaints during the followup. No endometriosis was found in the group that underwent a subsequent laparotomy or laparoscopy (18/26). Female infertility was not found in those 14 females who were attempting to conceive. Twenty-five (89%) out of 28 pregnancies ended in delivery, the live birth rate being 82% in the longitudinal and 94% in the transverse obstruction group. CONCLUSION: Accurate diagnosis together with adequate treatment may reduce the need for re-operations in cases with obstructing vaginal malformations. No specific gynecologic long-term clinical symptoms were identified in obstructing vaginal anomalies.     

Complete and partial vaginal agenesis.

The proper diagnosis and treatment of a patient with vaginal agenesis demands a thorough knowledge of the relevant embryology, anatomy and physiology as well as sensitivity to the potentially emotionally devastating effects of the condition. Ten patients with vaginal agenesis were evaluated and treated at Wilford Hall USAF Medical Center over a three-year period. The patients fell into three groups, those with: (1) Müllerian atresia, complete or partial; (2) maldevelopment of the lower one-third of the vagina; and (3) testicular ferminization. Other congenital anomalies existed in many of these patients. Most of the patients were treated with the Frank method of vaginal development with good results. Some underwent surgical correction.     

Laparoscopic promontofixation for the treatment of recurrent sigmoid neovaginal prolapse: case report and systematic review of the literature

Prolapse of a sigmoid neovagina, created in patients with congenital vaginal aplasia, is rare. In correcting this condition, preservation of coital function and restoration of the vaginal axis should be of primary interest. A 34-year-old woman with vaginal agenesis underwent vaginoplasty using sigmoid colon. Almost 6 years after the initial operation, she started complaining of a bearing-down sensation and an increase in vaginal discharge. She underwent 2 open surgeries and one vaginal surgery to treat the prolapse with no success. She came to our service and at vaginal examination the neovagina protruded approximately 5 cm beyond the hymen. The prolapse was treated successfully using a laparoscopic approach to suspend the neovagina to the sacral promontory (laparoscopic promontofixation). Prolapse of an artificially created vagina is a rare occurrence, without a standard treatment. Laparoscopy may be an alternative approach to restore the neovagina without compromising its function.     

Adolescent Urethral Coitus: 2 Cases and Review of the Literature

BackgroundUrethral coitus is a very rare finding in adolescent women. There are 26 reported cases in the literature, but only two were in adolescents. Urethral coitus has been most commonly described in women with müllerian anomalies and less commonly in other unusual clinical circumstances.CasesWe report 2 cases of adolescent women with known müllerian anomalies who were unknowingly engaging in urethral coitus; 1 adolescent with known vaginal agenesis and VACTERL association and one 16-year-old with an oblique vaginal septum and non-communicating functioning uterine horn. Both young women had significant urethral dilation at the time of examination under anesthesia.ConclusionsUrethral intercourse is rare but may have significant consequences. Ongoing follow-up, careful history, and physical examination in adolescent women with müllerian anomalies are important in order to avoid possible complications, particularly when they are contemplating sexual activity. A history of urinary incontinence, dyspareunia, and urinary tract infections in young women with müllerian anomalies should raise suspicion of urethral coitus. If possible, the müllerian anomaly should be corrected to allow vaginal intercourse and discontinuation of urethral coitus.     

Congenital anomalies of the female reproductive tract--diagnosis and management

The aim of this review was to discuss the putative etiology of Müllerian duct anomalies and to present the current diagnostic strategy and therapy Congenital defects of the female reproductive tract result from failure in the proper embryological development and fusion of the Müllerian ducts. Their causative factors are not fully understood yet. Clinical symptoms, if any appear usually during adolescence or early adulthood, and in some cases might affect the reproductive outcome. Imaging techniques such as hysterosalpingography ultrasonography and magnetic resonance are mainstay for the diagnosis. The classification system of these anomalies facilitates the decision about therapy and prognosis, however individual approach in every case is strongly recommended.     

先天性无阴道综合征临床研究进展

先天性无阴道综合征(Mayer-Rokitansky-Küster-Hauser syndrome,MRKH综合征)表现为苗勒管发育不全(子宫和阴道上2/3发育不全),染色体核型46,XX,有正常女性第二性征,因青春期原发性闭经被临床诊断。MRKH综合征病因仍不明确,临床分类尚未统一,应与雄激素不敏感综合征、阴道闭锁等疾病鉴别。治疗方法主要为阴道成形术,以腹膜阴道成形术(罗湖术式)、乙状结肠阴道成形术等为主流手术。     

The embryologic development of the human vagina.

Our present understanding of the sequence and mechanisms of human genital organogenesis is reviewed. Current theories about the derivation of the vaginal epithelium are examined and tested against two anomalous circumstances, congenital androgen insensitivity and agenesis of the lower vagina, which are presented as examples demonstrating the respective participation of the urogenital sinus or of the Müllerian ducts alone in the developmental process. The abnormalities recently described in the vagina and cervix of girls exposed in utero to diethylstilbestrol (DES) correspond remarkably with those encountered in lower vaginal agenesis, particularly with regard to the presence of vaginal adenosis, the deficiency of glycogen in the squamous cells (squamous metaplasia), and the abnormal response of the squamous epithelium to Schiller's iodine test. It is concluded that the development of the human vagina is best explained by the theory which holds that the Müllerian ducts in fetal life extend caudally to the level of the future hymen. After fusion of these ducts, squamous cells arising in the epithelium of the urogenital sinus invade from below, advance, and replace completely the Müllerian mucosa up to the level of the external os of the cervical canal.