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Aims: The study sought to document our experience with management of genital fistula and related symptoms in women with MRKH syndrome.Methods: This is a retrospective review of women with MRKH syndrome who were treated for genital fistula and related conditions from January 2012 to July 2018. Our Microsoft Access database and operation register were used to locate the folders from which data was extracted. Follow up information was obtained by telephone interview. Data was analysed with SPSS version 17.Results: The mean age at presentation of the six patients was 21.2 years (SD 4.5). Mean follow-up period was 27.3 months (SD 24.1). One patient presented with infertility; the remaining five presented with genital fistula (two iatrogenic, two gishiri cuts and one sexual trauma). Three fistulae were vesicovaginal and two rectovaginal. All fistulae were successfully repaired. All patients were offered sigmoid neo-vagina as one-stage or two-stage procedure for concerns about penetrative vaginal intercourse. To date, two patients are sexually active during follow-up, and have a pleasing and satisfactory penetrative neo-vaginal sexual experience.Conclusion: Women and girls with MRKH syndrome present with genital fistula from iatrogenic, harmful cultural practice and sexual trauma. Regardless of presenting complaints of women with MRKH syndrome, they also had concerns regarding penetrative vaginal intercourse. Depending on the mode of presentation, one- stage or two-stage surgical repair was possible and sigmoid neo-vaginal surgery provided a satisfactory penetrative neo-vaginal sexual outcome.Keywords: fistula, MRKH syndrome, neo vaginal surgery

The objective of this case study is to present our experience of a surgical approach for vaginal agenesis using an acellular porcine small intestinal submucosa (SIS) graft. The present report involved 2 patients diagnosed as having vaginal agenesis due to Meyer-von-Rokitansky-Küster-Hauser syndrome. The operation procedure involved the creation of a neovaginal tunnel and then a mold wrapped with the SIS graft was placed in the neovagina. The duration of surgery was less than 45 min with minimal blood loss and no operative and postoperative complications. Epithelialization of the neovagina was achieved within 2 months after surgery. The neovagina created with this procedure was the same as that of a normal adult vagina histologically and physiologically. In conclusion, the creation of a neovagina using a SIS graft resulted in a favorable outcome and this approach may be a potential alternative to the management of vaginal agenesis.

To describe analytically the anatomic variety and laparoscopic findings observed in patients with Rokitansky syndrome throughout an 11-year span.We analyzed the laparoscopic and chart records of 106 consecutive patients who underwent surgery for the creation of a neovagina, according to the modified laparoscopic Vecchietti procedure.A hypoplastic vagina was observed in 61 women. Müllerian remnants, laterally displaced in the pelvis, were identified in 92 cases; 42 (25.9%, 95% confidence interval [CI] 19.2-33.3) of 162 müllerian remnants were cavitated and contained endometrial mucosa. Ovaries were extrapelvic in 17 (16.0%, 95% CI 9.6-24.4) cases. Anomalies of the urinary tract were identified in 32 (30.2%, 95% CI 21.7-39.9) patients; unilateral renal agenesis was the most frequent finding (18 cases; 18%, 95%CI 10.4-25.5).Rokitansky syndrome has a wide variability of anatomic presentations, and, as the do other congenital anomalies of the female genital tract, it represents a continuum of embryonic malformations, which occur at different stages of development.

Resume Objectif Mettre l'accent sur le piege que peut representer l'echographie pelvienne dans un contexte d'hypotrophie uterine majeure, associee a une amenorrhee primaire avec retard pubertaire. Patientes et methodes Trois patientes nous ont ete adressees initialement pour suspicion de syndrome de Mayer-Rokitansky-Kuster-Hauser, les explorations morphologiques initiales n'ayant pas permis d'individualiser l'uterus. Elles ont ete evaluees cliniquement, puis ont beneficie d'explorations hormonales, caryotypiques et d'une echographie pelvienne sus-pubienne. Dans un second temps ont ete realises une IRM pelvienne puis un traitement estrogenique d'epreuve. Resultats Les evaluations hormonales ont revele chez la patiente 1 une insuffisance ovarienne primitive prematuree, et chez les patientes 2 et 3 un hypogonadisme hypogonadotrope. Le caryotype etait 46,XX chez toutes les patientes. L'echographie sus-pubienne initiale n'a visualise l'uterus chez aucune patiente. L'IRM pelvienne a finalement montre un uterus impubere chez la patiente 1, hypotrophique chez la patiente 3 mais etait en faveur d'une agenesie uterine chez la patiente 2. Dans les trois cas, le traitement estrogenique a induit la croissance uterine et finalement confirme le diagnostic d'hypotrophie uterine majeure. Discussion et conclusion L'echographie pelvienne sus-pubienne peut induire en erreur pour le diagnostic etiologique d'une amenorrhee primaire. En fait, l'absence de visualisation de l'uterus doit etre consideree comme possible en presence d'un retard pubertaire, et ne doit pas entrainer le diagnostic premature de syndrome de Mayer-Rokitansky-Kuster-Hauser. En effet, les consequences therapeutiques, psychologiques et en terme de reproduction sont radicalement differentes.

Resume Objectif – Evaluer la faisabilite d’une technique chirurgicale mixte, coelioscopique et perineale pour creer un neovagin. Patientes et methodes – Nous rapportons quatre cas de patientes ayant beneficie de cette intervention dans le cadre d’un syndrome de Mayer-Rokitansky-Kuster–Hauser. Le protocole chirurgical a ete le meme pour les quatre patientes. Les resultats ont ete evalues sur la duree operatoire, les complications per- et postoperatoires, le taux d’hemoglobine a j1, les quantites d’antalgiques utilisees, la reprise du transit, la duree d’hospitalisation, et la longueur du neovagin. Resultats – La duree operatoire moyenne a ete de 311 min. La diminution moyenne du taux d’hemoglobine a j1 postoperatoire a ete de 2,3 g/dl. Les quantites moyennes d’antalgiques et d’anti-inflammatoires utilisees ont ete respectivement : 12,6 mg de morphine, 216,7 mg d’AINS et 16 g de paracetamol. La reprise du transit a ete effective en moyenne a j2,3. La duree moyenne d’hospitalisation a ete de 6,5 j. Aucune complication operatoire ni postoperatoire immediate n’a ete constatee. La longueur vaginale etait de 12 cm. Discussion et conclusion – Cette technique chirurgicale est realisable et reproductible pour des equipes ayant une bonne experience de la cœliochirurgie gynecologique et digestive. Elle permet d’obtenir un neovagin de longueur suffisante, ne necessitant aucune dilatation. La cœlioscopie diminue les consequences psychologiques et esthetiques d’une intervention, chez ces jeunes patientes deja eprouvees par leur malformation.

Resume Le syndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) (agenesie des structures mulleriennes chez la fille) est souvent associe a d’autres anomalies : renales ou osseuses, surdite, tumeurs ovariennes. Les anomalies ovariennes fonctionnelles sont meconnues. Observations. – Cinq nouveaux cas de MRKH sont rapportes. Ils etaient associes a une surdite dans deux cas, a des anomalies renales dans trois cas, a des anomalies vertebrales dans un cas, a un exces de poids et un dysfonctionnement ovarien dans quatre cas (syndrome des ovaires polykystiques, puberte precoce, hyperandrogenie). Dans les cinq cas, une anomalie de position des ovaires expliquait l’absence de fiabilite de l’echographie. Conclusion. – Le diagnostic de syndrome de MRKH implique la recherche d’autres anomalies. Un trouble fonctionnel ovarien ne doit pas faire meconnaitre un syndrome de MRKH.

To date, no literature has focused on the counseling of patients with Mayer-Rokitansky-Küster-Hauser syndrome as relates to their unique fertility challenges. This article is presented as a guide to practitioners in the counseling of patients with varying Mayer-Rokitansky-Küster-Hauser phenotypes regarding individual reproductive potential.

Introduction and hypothesis: To investigate sexual and anatomical outcome after Shears neovagina in patients with Mayer-von Rokitansky-Kuster-Hauser syndrome (MRKH). Methods: Forty-three consecutive patients with MRKH syndrome underwent surgery creating a neovagina according to Shears. Follow-up was 8years. Sexual function was assessed using the Female Sexual Function Index (FSFI) as patient reported outcome; anatomical results were assessed measuring anterior, posterior and apical prolapse using the ICS Pelvic Organ Prolapse Score (ICS-POP Score). Pelvic floor contraction was measured applying the Oxford grading system. Results: Thirty-seven of the patients were regularly sexually active and filled in the FSFI; mean total FSFI was 27.2 (range 24-28). No significant prolapse of the neovagina was noted, 11 patients had a grade I cystocele, rectocele or apical descent that was asymptomatic. Oxford grading of the pelvic floor contraction was 4 in median (range 2-5). Conclusion: The neovagina according to Shears is a valuable surgical option with good sexual and anatomical outcome 8 years after therapy

We report on the association of Mayer-von Rokitansky-Küster-Hauser syndrome (MRKHS) with a unique form of Holt-Oram syndrome (HOS) with an aorto-pulmonary window. A 24-year-old Turkish woman was referred to our hospital because of primary amenorrhoea. Both her vagina and uterus were absent, and the diagnosis of MRKHS was established. Laparoscopic creation of a neovagina by the modified Vecchietti technique was performed. A rare congenital malformation of the heart, namely an aorto-pulmonary window, had required cardiac surgery when the patient was a 6-month-old infant. This cardiac malformation plus associated upper limb anomalies led to the clinical diagnosis of HOS. To the best of our knowledge, this is only the second report in the scientific literature on the concurrence of MRKHS and HOS, and the first published case of HOS with an aorto-pulmonary window as the cardiac malformation.

Between July 1992 and May 1999 twenty-four patients were submitted to neovaginoplasty by the Abbe McIndoe Technique using an expander ` Ž mold. The age varied from 14 to 31 years average . 18.4 years . The time of hospitalization varied Ž . from 8 to 11 days average 9.2 days . Ž . Twenty patients 20 24 83.3% were diagnosed with Rokitansky Mayer Kuster Syndrome, Ž . three 3 24 12.5% had Testicular FeminizaŽ . tion Syndrome, and one patient 1 24 4.1% had a post-traumatic deformity. The vaginometry prior to surgery varied between 0 and 2.5 cm

Endometriosis in Rokitansky-Kuster-Hauser syndrome has been reported only once previously. We present here a case of endometrioma in a patient with Rokitansky-Kuster-Hauser syndrome. A 26-year-old patient with Rokitansky-Kuster-Hauser syndrome presented with abrupt pain in the left iliac quadrant. A mass was confirmed by sonography. Laparoscopic inspection revealed no uterus. The mass was removed laparoscopically. Endometriosis was confirmed histologically. If endometrioma in a patient with Rokitansky-Kuster-Hauser syndrome is associated with a small rudimentary unicornis uterus with a small endometrial cavity, endometriosis can be assumed to have developed by retrograde menstruation theory. Because the patient did not have a functioning endometrium, her endometrioma is assumed to have arisen from coelomic metaplasia.

We performed a scanning electron microscopic study of fimbrial biopsies from two patients with Rokitansky's syndrome and from three fertile patients in the same period of the menstrual cycle as controls. In the patient samples we observed irregular running and frequent conglutination of the mucosal folds. Ciliated cells appeared reduced in number compared with controls, and cilia were often agglutinated. Some areas contained nonciliated cells, dome-shaped or giant as observed in the menopause, with rare microvilli, suggesting disturbances of cellular growth and trophism of the tubes in patients with Rokitanskys syndrome.

We report the magnetic resonance appearance of a case of round ligament leiomyoma that presented as a rapid growing inguinal mass in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome.

Testicular feminization findings in a 24-year-old woman closely resembled those of Mayer-Rokitansky-Kuster-Hauser syndrome with persistent mullerian remnants and wolffian duct regression.

Background We report a case of monochorionic, monoamniotic female twins with discordant congenital reproductive tract anomalies. Case We present the case of a 17-year-old monochorionic-monoamniotic female twin with Mayer-von Rokitansky-Kuster-Hauser Syndrome (MRKH) and her twin sister, who had with normal female reproductive system. Monozygosity is investigated by the complete history, physical, and imaging data, antenatal and birth reports of both the patient and her monozygotic twin sister. Examination of these documents proves monozygosity of the sisters, and imaging studies demonstrate MRKH in one twin and normal female genitalia in the other. Summary and Conclusion This case is presented as proof of MRKH discordance in monozygotic twins.

We sought to present a simple new traction device that was used with success in 4 cases of laparoscopic creation of a neovagina using a modified Vecchietti technique. Four patients were treated with laparoscopic creation of a neovagina. All women had Rokitansky-Kuster-Hauser syndrome and no more than a 1-cm vestibule dimple. A 3-cm diameter and 10-cm long plastic tube (mold) was used for traction. We developed 2 independent wood traction devices. They were based on tuning pegs of a guitar. The 1-cm demarcation in the external face of the mold allowed easy observation of the effects of traction. The patients were hospitalized from 7 to 10 days and the postoperative courses were uneventful. One patient was lost after 3 months of follow-up. After a year, the other 3 patients were having intercourse and were satisfied with the results. The laparoscopic technique has several advantages: it does not need grafts, it does not need a dissection of the space between the bladder and the rectum, it uses the mucous membrane of the vestibular area, the time of hospitalization is relatively short, and it possesses good long-term results.

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Kuster-Hauser syndrome without androgen excess excluded this gene as a major cause of this syndrome, regardless of the subtype.

Le syndrome de Rokitansky-Kustner-Hauser, aussi appele aplasie utero-vaginale, etait decrit au debut du 19eme siecle par Mayer (1829). Il touche 1.2% des filles et associe une absence complete de vagin avec des troubles plus ou moins severes du developpement de l'uterus. Le plus souvent, il consiste en une corne uterine rudimentaire, un caryotype normal XX, et un caractere sexuel secondaire feminin.

Objective The objective was to apply Vecchietti's principles to laparoscopy for the creation of a neovagina in patients diagnosed with Rokitansky syndrome. Study design The setting was a university tertiary hospital. The design was a descriptive study to describe the outcome in 18 patients diagnosed with Rokitansky syndrome after laparoscopic creation of a neovagina applying Vecchietti's principles and implementing some useful modifications. Results In 17 patients the result was considered successful when a new neovagina measuring at least 10 cm long was obtained. Less satisfactory in the 18th patient was when a shortened neovagina was found at the 2-year follow-up as the patient did not follow the postoperative recommendations. Conclusion Laparoscopic creation of a neovagina is a safe, minimally invasive treatment with good functional and sexual results.

Diagnosis of Mayer-von Rokitansky-Kuster-Hauser syndrome can be made on the basis of the patient's history, physical examination, ultrasound examination, and hormonal assays. When intercourse is desired, laparoscopic creation of a neovagina or alternatively Frank's dilatation method or his modifications may be recommended. Two cases of laparoscopic creation of a neovagina according to the principles of Vecchietti are reported.

Study Objective: To describe the temporary use of Williams vulvovaginoplasty in selected patients with Rokitansky syndrome. Design: Case report. Setting: The Pediatric and Adolescent Gynecology Service in Memphis, Tennessee. Interventions: A Williams vulvovaginoplasty was created and later reversed. Main Outcome Measures: Patient self-report. Conclusion: Williams vulvovaginoplasty may be used as a temporizing measure in selected patients with Rokitansky syndrome.

Vaginoplasty using pelvic peritoneum (Rothman's method) was used in 24 patients with congenital absence of the vagina. The results are presented. Rothman (1972) described vaginoplasty using pelvic peritoneum. We have operated on 24 patients with the anomaly. In this report, the better technique for this operation and the results of treatment are evaluated using data from these 24 cases.

In patients with congenital absence of the vagina, a neovagina may be created by either operative or nonoperative techniques. A 25-year-old patient with a neovagina created by self-dilatation developed complete prolapse of the neovagina with an enterocele. A transabdominal sacral colpopexy successfully suspended the vaginal vault and allowed the patient to resume sexual function.

Various operations have been proposed to compensate for congenital absence of the vagina. Sigmoid colpoplasty is one of the most efficient methods to avoid subsequent stenosis of the vaginal neocavity.Celioscopic surgery was performed by the perineal route.There are many reasons to choose celioscopy in this type of surgery performed for functional and esthetics purposes.Sigmoid colpoplasty is a new, reliable, and reproducible technique for teams experienced in celioscopic surgery.

a haemorrhagic corpus luteum. A correct surgical diagnosis is made in only 28% of cases, therefore it has been suggested that any haemorrhagic tissue should be excised for histology, especially if serum b-HCG is elevated with no evidence of intrauterine or tubal pregnancy. In the case of a ruptured ovarian ectopic pregnancy, oopherectomy is the treatment of choice as increased vascularity of ovarian tissue can lead to massive haemorrhage. References Hallatt J.G. (1982) Primary ovarian pregnancy: a report of twenty-five cases. American Journal of Obstetrics and Gynecology, 143, 55 – 60. Melilli G.A., Avantario C., Farnell C., Papeo R. and Savona A. (2001) Ovarian pregnancy: a case report. Clinical and Experimental Obstetrics and Gynecology, 28, 63 – 64. Raziel A., Golan A., Panksky M., Ron-El R., Bukovsky I. and Caspi E. (1990) Ovarian pregnancy, a report of twenty cases in one institution. American Journal of Obstetrics and Gynecology, 163, 1182 – 1185.

Magnetic resonance imaging and laparoscopy demonstrated the presence of a myoma in a woman with Rokitansky syndrome.

The successful use of Vecchietti's technique for creating a neovagina in a case of Rokitansky syndrome with an associated transplanted kidney is reported. The technique is performed by means of a laparoscopic approach, adapted to the special anatomical situation, in order to avoid renal injuries. The accomplishment of a normally functioning neovagina, with no intra-operative or post-operative complications, proves that this technique can also be applied satisfactorily to this type of patient.

Agenesis of vagina has traditionally been treated by surgical construction of a neovagina with insertion of a transplant (1). However, in the youngsters with this anatomical defect regular intercourse may gradually create a vagina with an adequate depth. Four cases of teenagers with vaginal agenesis will be reported where creation of a functional vagina was obtained purely by coital dilatation without use of any artificial instruments.

Histocompatibility leukocyte antigens of 32 patients with Rokitansky-Küster-Hauser syndrome were compared with a control healthy population of 100. For analysis chi 2 with Yates' correction and Bonferroni criterion for multiple comparisons were used. Seven antigens were significant in the chi 2 test, but only three were confirmed in the Bonferroni criterion (Aw19, DRw52, and DQw1) (p0.001). The study showed certain associations between Rokitansky-Küster-Hauser syndrome and the major histocompatibility complex.

A neovagina was created by a laparoscopic modification of Vecchietti's operation in two women with Mayer-Rokitansky-Küster-Hauser syndrome. A plastic olive was applied to the vaginal dimple and pulled upward by two threads passed through the potential neovaginal space at laparoscopy, without the need for laparotomy or dissection of the vesicorectal space. In both cases we obtained very good results in anatomic and sexual functional terms.

A case of Rokitansky-Kuster-Hauser syndrome with vaginal intra-epithelial neoplasia 3 is reported. Vaginal cytologic screening is recommended in women with this syndrome; furthermore, patients treated by total vaginectomy and vaginal reconstruction still require vaginal cytologic surveillance.

Estrogen absorption from the neovagina was studied by administering 2.0 mg of micronized 17 beta-estradiol (E2) neovaginally to 6 patients. The neovagina in each patient was constructed by using the peritoneum from the pouch of Douglas. A mean peak of circulating E2 concentrations more than 15-times the basal level was achieved 90 min after the application. Until 12.5 h after the application, the E2 levels were significantly (P less than 10(-6)) elevated. FSH levels were significantly (P = 0.003) changed in comparison to the basal serum concentration. There was no significant (P = 0.08) change in LH levels. The resorption of estradiol from the neovagina is similar to that seen in women with normal vaginas.

We report the results of a study performed in a sample of women with the Mayer-Rokitansky-Küster (MRK) anomaly and in their first-degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].