Laparoscopic evaluation of congenital absence of the uterus. a case report

Anatomic gynecologic anomalies, including congenital absence of the uterus, occur with surprising frequency in referral practice of reproductive endocrinology and reproductive surgery. Female individuals with uterus agenesis have normal external genitalia and, therefore, the diagnosis is rarely made in infancy. We report a case of congenital absence of the uterus in a young woman 25 years old, presenting with primary amenorrhea. The patient had a normal karyotype and normal secondary sex characteristics. Sex hormones were within normal limits, indicating normal function of the hypothalamic-pituitary-ovarian axis. The diagnosis was set by bimanual gynecologic examination, which was followed by vaginal ultrasound examination. The patient underwent a laparoscopic investigation, which revealed the absence of the uterus and the presence of small rudimentary uterine horns, connected to normal fallopian tubes. Ovarian morphology was bilaterally normal. In conclusion we believe that every patient with genital tract abnormalities has to be dealt with individually, depending on the patient's anatomy, desires and age.     

Urologic and genital anomalies in patients with congenital absence of the vagina.

Forty-three patients with primary amenorrhea secondary to congenital absence of the vagina have been seen at this institution over the past 25 years. Associated urologic anomalies were present in 47% of patients in whom evaluation of the urinary tract was performed. Two patients recently presented with the rare combination of vaginal agenesis and solitary pelvic kidney, and one other such patient was found in a retrospective study of these records. A review of the literature concerning the associations of these conditions is presented with reference to frequency, embryology, pathophysiology, diagnostic methods, and various surgical procedures for correction of vaginal agenesis. The results of surgical correction using simple techniques in this institution have been comparable to those of other authors. The need for thorough preoperative evaluation of patients with genital malformations to include complete urologic studies is stressed.     

Non-Obstructive Müllerian Anomalies

BackgroundThe nonobstructive group of anatomic variants involving the reproductive tract includes vaginal agenesis as well as the congenital anomalies of the vagina and uterus, occurring without pain during the pubertal years.ObjectiveThe objective is to discuss the non-obstructive morphologic variations in anatomy of the uterus and vagina.DesignSystematic review using the GRADE system.ResultsThese congenital anomalies are not associated with abnormalities of the external genitalia and therefore may be missed on routine physical examination. When these anomalies do cause symptoms they may be as minor as difficulty with menstrual hygiene or more significant such as primary amenorrhea, dyspareunia, recurrent pregnancy loss, and reproductive complications.ConclusionsWomen with non-obstructive reproductive tract anomalies present at various ages due to the asymptomatic nature or late symptom onset of certain conditions. An MRI is the gold standard in evaluation of such conditions to aid in confirming the müllerian variant. Each condition requires careful counseling because obstetric and gynecologic risks and consequences may differ. Treatment is individualized in cases of uterovaginal agenesis with both nonsurgical and surgical options available for neovagina creation. In cases of uterine or vaginal septae, the treatment timing may vary depending on patient history. Finally, in cases of non-obstructive communicating uterine horns, the risk of ectopic pregnancy is high in the remnant horn. Should a pregnancy occur in this small underdeveloped horn, therefore, excision is recommended.     

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.     

阴道发育异常247例临床分析

目的:探讨阴道发育异常的临床特征和诊治情况。方法:回顾性分析2002年至2011年在我院就诊的247例阴道发育异常患者的临床资料。结果:247例阴道发育异常患者中先天性无阴道173例(70.04%),阴道闭锁65例(26.32%),阴道隔膜9例(3.64%)。临床表现主要为无月经来潮(96.4%)、腹痛(32.4%)和性生活困难(8.9%)。其中合并子宫畸形患者201例(81.4%),行肾脏B超184例中合并肾脏畸形患者19例(10.3%)。247例阴道发育异常患者中235例行手术治疗。结论:阴道发育异常以先天性无阴道所占比例最大,可伴有子宫发育畸形和泌尿系统畸形,伴发畸形的诊断有重要临床意义。阴道发育异常患者大多需手术治疗,具体术式根据病变类型决定。     

Total vaginal reconstruction with combined 'Split Labia Minora Flaps' and full-thickness skin grafts

PURPOSE: Vaginal reconstruction with split-thickness skin grafts is the most common method for total vaginal reconstruction. Although it has disadvantages like contraction of the graft, foreshortening, donor site morbidity and long-lasting periods of vaginal standing; its easy surgical technique makes it popular. A new method using split labia minora (LM) flaps and full-thickness skin graft is discussed in this study. METHOD: A 19-year-old female was presented with amenorrhea. A total absence of vagina was present and the patient underwent a total vaginal reconstruction for possible sexual intercourse. RESULTS: We observed no contraction and no foreshortening with a patent vaginal cavity up to 11 cm and 4.5 cm width. The need for continuous standing period was as short as 4 weeks and for intermittent standing up to 4 months. Sexual intercourse was encouraged after 4 weeks. During sexual intercourse no external lubrication was reported to be needed. There was no need for further reconstructive intervention. CONCLUSION: Vaginal reconstruction in congenital vaginal agenesis with split LM flaps and full-thickness skin grafts is a simple and effective method, which shortens the standing period and decreases the contraction in neovagina. Total vaginal reconstruction with split LM flaps could also be possible; to achieve this goal, expansion of LM flaps could be a further alternative.     

A Case of Distal Vaginal Agenesis Presenting with Recurrent Urinary Tract Infection and Pyuria in a Prepubertal Girl

Background

Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl.

Primary amenorrhea caused by crushing trauma of the pelvis

An 18-year-old woman sought treatment for primary amenorrhea. Crushing trauma of the pelvis in her childhood had caused separation between the uterine corpus and the cervix. Through a combined abdominal and vaginal approach the continuity of the uterine outflow tract was restored. Years later, after in vitro fertilization, the patient was delivered of a healthy term baby in an elective cesarean procedure.     

Rectovestibular fistula as neovagina in congenital cervico-vaginal agenesis associated with imperforate anus

An 18-year-old female presented with primary amenorrhea and progressive cyclic abdominal pain, which prompted emergency exploratory laparotomy. Intraoperative findings revealed absent cervix and vagina, partial bicornuate uterus, hematometra, left tubal endometriosis, ruptured left endometrioma and left renal agenesis. Left salpingectomy, left oophorocystectomy, hysterotomy, evacuation of menstrual blood and transverse loop colostomy were performed. Depo-medroxyprogesterone acetate was administered to suppress menses. On re-exploration, utero-rectovestibular fistula anastomosis was described with the distal rectovestibular fistula functioning as a neovagina. Cyclic menses occurred thereafter. Endorectal pull-through with anoplasty was performed after the fistulous tract healed. To the best of our knowledge, this is the first reported case of cervico-vaginal agenesis associated with imperforate anus and rectovestibular fistula. Early diagnosis and surgery are necessary to avoid complications such as endometriosis. The aim was to preserve fertility with conservative management.     

Müllerian agenesis: etiology, diagnosis, and management

Mullerian agenesis, a congenital malformation of the genital tract is the second most common cause of primary amenorrhea. Its etiology is poorly understood but it may be associated with renal, skeletal, and other abnormalities. The diagnosis is often made either radiologically or laparoscopically in patients in whom hormonal and karyotypic investigations for primary amenorrhea are normal. Two-dimensional ultrasound is not a reliable method of diagnosis, as exemplified by the two cases presented in this review; however, three-dimensional ultrasound may be a more sensitive diagnostic tool. The management is varied, but we conclude that the treatment of choice should be a nonsurgical approach aimed at creating a neovagina. Because of the implications for reproduction, these patients require psychological support, which should be offered as part of therapy. TARGET AUDIENCE: Gynecologists and Family Physicians LEARNING OBJECTIVES: After completion of this article, the reader will be able to describe the pathophysiology and clinical presentation of mülerian agenesis and to list the other abnormalities associated with this condition and to outline potential treatment options for a patient with müllerian agenesis.     

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.     

Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report

BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is the second most frequent cause of primary amenorrhea, with a reported incidence of 0.002%. Patients have a normal karyo-type and usually normal ovaries. Associated ovarian abnormalities are rarely reported. CASE: A 17-year-old woman with primary amenorrhea was evaluated by diagnostic laparoscopy, which showed complete müllerian agenesis. On the left side, the uterine tube and round ligament were hypoplastic, and the ovary was absent. The karyotype was 46, XX. Intravenous urography revealed a right kidney below the normal site with malrotation abnormality. CONCLUSION: Müllerian duct agenesis coexisting with unilateral ovarian agenesis and a contralateral renal abnormality has not been widely described before. Unilaterality might play a role in the etiologic factor of Mayer-Rokitansky-Küster-Hauser syndrome.     

MRI features and differential diagnoses of congenital vaginal atresia

Objective: To investigate the MRI manifestations of congenital vaginal atresia, analyze its imaging features, and improve the understanding of the disease.

Methods: MRI findings and clinical data of 12 patients with congenital vaginal atresia confirmed by hysteroscopy and laparoscopic surgery were retrospectively analyzed. Vaginal atresia was classified according to vaginal dysplasia in AFS female genital malformation classification system.

Results: In this study, 12 cases of congenital vaginal atresia were diagnosed by combined preoperative MRI with operative diagnosis. Among them, 10 patients all had type-I congenital vaginal atresia, and their uterus and cervix were normal (1 patient had ectopic renal malformation combined with left ovarian endometriosis cyst and 1 patient with uterine empyema). The other two cases were diagnosed congenital vaginal atresia type II (1 case merged with residual uterus, 1 case with cervical dysplasia). MRI mainly manifested as dilatation and hemorrhage in the uterine cavity, cervical canal and vaginal upper segment. T1WI showed high signal, T2WI showed slightly lower and slightly higher signal. The dilated vagina was above the perineal level.

Conclusion: MRI features of congenital vaginal atresia have certain characteristics. MRI cannot only accurately assess the type of vaginal dysplasia and its associated complications, but also make objective evaluation and diagnosis, so it can be used as the best effective preoperative image evaluation.     

The bicycle seat stool in the treatment of vaginal agenesis and stenosis: A preliminary report

A new pressure technique for treatment of vaginal agenesis and stenosis, with the use of the bicycle seat stool, specifically designed Lucite dilators, and the patient model, is described. Experience with this method in 24 patients over a 5-year period produced coital function in 10 of 12 patients with vaginal agenesis and 10 of 14 patients with various types of stenosis. Favorable experience with this technique, as compared to a previous 5-year period, in which the majority of vaginal agenesis was managed by the Abbe-McIndoe operation, has led to a reversal of primary therapy of vaginal agenesis and stenosis from a surgical to a nonsurgical approach.     

A comparison of MRI and laparoscopy in detecting pelvic structures in cases of vaginal agenesis

OBJECTIVE: To determine whether laparoscopy improves detection of uterine structures over MRI in cases of vaginal agenesis.DESIGN: Prospective case series.SETTING: Ambulatory pediatric gynecology clinic in a tertiary care children's hospital.PARTICIPANTS: Subjects with vaginal agenesis who had an MRI to detect uterine structures.MAIN OUTCOME MEASURES: A chart review identified subjects with vaginal agenesis who had an MRI to assess müllerian structures. The MRI findings were correlated with physical exam, presenting symptoms, and operative findings. We assessed degree of agreement between laparoscopy and MRI in patients both with and without pelvic pain to determine sensitivity and specificity of MRI in predicting uterine structures confirmed on laparoscopy.RESULTS: Twenty-two subjects with vaginal agenesis were identified and 14 had both an MRI and laparoscopic evaluation. MRI successfully predicted uterine anomalies in six cases (43%) and lack of uterine structures in one case (8%). MRI diagnosis did not correlate with laparoscopic findings in the remaining seven cases (50%). Among subjects presenting with no complaints of pelvic pain (n = 6), three had negative MR imaging but positive laparoscopy. Using laparoscopy as a gold standard, MRI had a sensitivity of 53% for accurately detecting uterine anomalies confirmed on laparoscopy.CONCLUSION: Laparoscopy improves detection of uterine structures over MRI alone in women with vaginal agenesis.     

Primary vaginal tuberculosis after vaginal carcinoma.

A case of primary vaginal tuberculosis is reported. A 62-year-old woman presented with a slightly eroded, granular vaginal lesion 10 months after radiation therapy for Stage II vaginal squamous cell carcinoma. She had previously undergone a total abdominal hysterectomy and left salpingo-oophorectomy at age 37 for abnormal uterine bleeding. This presentation of genital tract tuberculosis is unusual because of the location of the primary lesion, the age at presentation, the occurrence after radiation therapy, and the possible means of infection. We emphasize the need to maintain a high index of suspicion and to biopsy any suspicious vaginal lesions.     

Uterus didelphys with cervical agenesis associated with adenomyosis,a leiomyoma and ovarian endometriosis. A case report

BACKGROUND: Elevated level of serum CA-125 was detected in a 48-year-old woman who was diagnosed with a lateral fusion defect in association with congenital agenesis of the uterine cervix. This unusual case combined two developmental anomalies of the müllerian duct. CASE REPORT: A 48-year-old woman consulted our outpatient department due to persistent abdominal pain for six months. Bimanual pelvic examination showed absence of the cervix, an anteverted uterus and a 6-cm, left adnexal mass. Ultrasound and computed tomography revealed a uterus didelphys with a 3-cm cystic mass over the right ovary. Serum level of CA-125 was 641.4 U/mL. The patient underwent exploratory laparotomy, and total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed. Pathology confirmed adenomyosis and a leiomyoma of the uterus with functional endometrium in conjunction with endometriosis of the right ovary. CONCLUSION: Multiple müllerian anomalies associated with adenomyosis and endometriosis should be considered in patients presenting with primary amenorrhea. Thorough evaluation, careful planning, fertility preservation and postoperative outcomes should be reviewed.     

Transvaginal repair of the posthysterectomy vesicovaginal fistula using a peritoneal flap: the gold standard

OBJECTIVE: To evaluate the transvaginal approach to management of vesicouterine fistulas. STUDY DESIGN: Over a 10-year period, 7 cases of simple posthysterectomy vesicovaginal fistulas were identified. The surgical technique involved resection of the fistulous tract completely, performance of layered closure and placement of a peritoneal flap between the bladder and vaginal suture lines. RESULTS: One fistula closed spontaneously, and the remaining 6 were repaired transvaginally. Primary repair was successful in all cases, with no complications. CONCLUSION: The transvaginal repair described is the preferred method of repair, associated with an extremely high success rate, low morbidity and cost savings. Its approach should be considered the gold standard.     

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.