Rokitansky Syndrome or Cervicovaginal Atresia?

STUDY OBJECTIVE: To investigate the possibility of conservative management of rudimentary uterine horns associated with vaginal agenesis. DESIGN: Observational study on cohort of consecutive cases treated with the same criteria from 2008 to 2021. SETTING: Two academic institutions and teaching hospitals in Milan, Italy. PATIENTS: Eight patients with vaginal agenesis associated with rudimentary cavitated uterine horns treated by the same team and postoperatively followed. INTERVENTIONS: All the subjects underwent the same standardized surgical procedure: laparoscopy, intraoperative ultrasound, and horn-vestibular direct anastomosis. Postoperatively vaginoscopy was performed every 6 months. MEASUREMENTS AND MAIN RESULTS: The postoperative course was generally uneventful and the mean hospital stay was 4.3 ± 2.5 (SD) days. All the patients began to menstruate a few months after the operation. Menstrual flows were light but regular. All patients had a neovaginal length > 4 cm at 1 year postoperatively, reaching approximately 6 cm at 2 years. During the follow-up period, 5 patients were sexually active without dyspareunia. In all cases, surgery restored the continuity of the neovagina and uterine horn through the creation of a "vaginal-horn fistula tract." CONCLUSION: In patients with vaginal agenesis associated with the presence of a uterine cavitary horn, it is possible to recover not only sexual activity but also menstrual function. The horn-vestibular anastomosis may be considered a valid, safe, and effective therapeutic option but requires accurate preoperative and intraoperative evaluation of rudimentary uterine structures.

The Peritoneal Neovagina after Davydov's Laparoscopic Procedure in Mayer-Rokitansky-Küster-Hauser Syndrome: Morphology and Ultrastructure Investigation of the New Epithelium.

STUDY OBJECTIVE: To investigate the clinical appearance and morphologic and ultrastructural aspects of the mucosa of the peritoneal neovagina after laparoscopic Davydov neovaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome. DESIGN: The study group was a prospective, observational, experimental cohort of cases treated in the same institution between 2015 and 2019. Patients were followed up at 3, 6, and 12 months after surgery and then every 12 months. SETTING: Single-center academic institution and teaching hospital in Milan, Italy. PATIENTS: Fifty-one consecutive subjects with clinical and imaging diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome surgically treated by the same team and postoperatively followed. INTERVENTIONS: All the subjects underwent the same standardized surgical procedure and thereafter were followed up at 3, 6, and 12 months after surgery and then every 12 months; a minimum follow-up of 12 months was achieved in all cases. Vaginoscopy and Schiller test were performed at each follow-up visit, and a biopsy specimen of the neovagina was obtained in a limited number of patients (6 out of 51) for light microscopy (LM) and scanning electron microscopy (SEM) analysis of the tissue. MEASUREMENTS AND MAIN RESULTS: In vaginoscopy, the neovaginal mucosa appeared homogeneous, smooth, and pink all along the neovaginal tract; the Schiller test detected iodine positivity at different degrees of extension upward from the hymenal ring, starting at 3 months postoperatively with almost complete positivity between 6 to 12 months in all cases. LM demonstrated adequate thickness and differentiation of the new mucosa along with the presence of glycogen storage; SEM revealed an ultrastructural surface appearance very close to normality. The main difference compared with a normal vagina was the reduced presence of vaginal mucosal folds. CONCLUSION: Under different techniques (vaginoscopy, Schiller test, LM, and SEM), a minimum of 6 months after surgery, the peritoneal neovagina epithelium showed aspects comparable to the natal mucosa of the vagina.

Clinical pilot study to evaluate the neovaginal PACIENA prosthesis® for vaginoplasty without skin grafts in women with vaginal agenesis.

BACKGROUND: To evaluate the feasibility and clinical outcomes of vaginoplasties using a neovaginal polylactic acid prosthesis made with 3-dimensional (3D) printing technology as an intraneovaginal mould. METHODS: This was an interventionist, prospective, and multicentre clinical pilot investigation of a sanitary product (PACIENA prosthesis®) aiming to recruit and operate on 8 patients over 6 months with a follow-up period of 6 months. Only six patients with Rokitansky syndrome and one patient with Morris syndrome (7 patients in total) were operated on in two university hospitals: "La Fe", Valencia (H1) and "Arrixaca", Murcia (H2). INTERVENTIONS: Extensive surgical dissection of a defined space between the urethra and bladder in the front and of the rectum in the back as well as insertion of the PACIENA prosthesis® covered with Interceed® were performed. After 12 days, the prosthesis was changed to the silicone-covered version for daily application. RESULTS: In the 6 patients with Rokitansky syndrome (86%), the primary endpoint (satisfactory vaginal outcome in terms of appearance, function, and sensation without relevant additional morbidity) was achieved, although only 2 patients (28%) were sexually active at the end of 6 months of follow-up. The patient with Morris syndrome withdrew from the study after 1 month. Patients without bacterial colonization showed positive Schiller tests at 1 month, and subsequent biopsies showed adequate keratinization and epidermization. Epithelization and iodopositivity were delayed in the patients who developed inflammatory granulomas. CONCLUSIONS: Good anatomical and functional results can be achieved with the PACIENA prosthesis® for vaginoplasties without skin grafts. However, adequate patient selection and education, good surgical techniques and haemostasis, postoperative support, and prevention of bacterial colonization are important. TRIAL REGISTRATION: This clinical study was approved by the Ethical Clinical Investigation Committee of San Juan University Hospital on September 27, 2016, to be conducted in the participating centres; it was authorized by the Spanish Agency of Medicines and Health Products (AEMPS) on April 24, 2017 (exp. no. 585/16/EC), to be carried out in that hospitals.

Simultaneous correction of breast hypertrophy and vaginal agenesis: Aesthetic surgery to the aid of reconstructive surgery.

Mayer-Rokitansky-Küster-Hauser syndrome is characterized by aplasia of the uterus and the upper ⅔ of the vagina, with normal female genotype (46,XX) and the development of secondary sexual characters. One of the most popular surgical treatment is the McIndoe procedure, which major drawbacks are the scar of split thickness skin graft (STSG)harvesting, and risk of vaginal stenosis for graft retraction. We report the case of a patient, operated modifying the McIndoe technique, by harvesting a full thickness skin grafts (FTSG) from patient's breasts, undergone simultaneous reduction mammoplasty. The FTSG provided a complete lining of the reconstructed neovagina. At 6 months, we observed complete mucinous metaplasia of the vaginal walls and 1 year after surgery no sign of stenosis, without the use of the mold. The advantages of this technique are reduced donor site morbidity, when compared with traditional McIndoe technique, and reduced risk of neovagina retraction ensured by FTSG, compared with STSG. If future patients' series confirm the good results achieved, we could consider it as a first-line option in patients undergoing neovagina reconstruction, seeking breasts or body contouring surgery.

Histological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome.

OBJECTIVE: To analyze the features of the epithelia coating neovaginas after vaginoplasty in women affected by Mayer-Rokitansky-Küster-Hauser syndrome STUDY DESIGN: We conducted a retrospective analysis of prospectively collected data. Women affected by Rokitansky syndrome who underwent neovaginal biopsy after vaginoplasty (McIndoe surgery, intestinal vaginoplasty, Vecchietti surgery, and Davydov surgery) were included. Macroscopic mucosal features were assessed through clinical examination and the Schilling test. Each biopsy specimen was prepared for examination by light microscopy and in some cases by scanning electron microscopy (SEM). RESULTS: Thirty-six patients (4 McIndoe, 2 intestinal vaginoplasty, 14 Vecchietti, and 16 Davydov) were included. All biopsies were performed without complications. In McIndoe's neovaginas, the mucosal microscopic features were similar to normal skin, with large areas of preserved epithelium, heterogeneous presence of dermal papillae, and superficial keratinization. The characteristics of the intestinal neovagina's surface were similar to those of a sigmoid colon, with well-shaped glands, cylindrical cells, and a secreting mucosa. In Vecchietti neovaginas, the surface the epithelium was flat and multilayered, highly similar to that of a normal vagina, with the presence of glycogen and superficial desquamation. On medium SEM magnification evaluation, the epithelium presented flattened polygonal cells. Finally, in Davydov neovaginas, none of the specimens had persistent mesothelial elements. The squamous neo-epithelium had regular aspects of differentiation with the presence of glycogen. At greater SEM magnification, microridges were evident, with a regular distribution. CONCLUSION: Each different technique of vaginoplasty leads to unique histological and structural features of the neovagina's mucosa. Knowledge of these elements must be the basis for the choice of the most appropriate intervention.

Mayo Clinic experience with modified Vecchietti procedure for vaginal agenesis: it is easy, safe, and effective.

OBJECTIVE: To evaluate the surgical outcome and the anatomic and sexual function in 10 women with Rokitansky syndrome who underwent the laparoscopic Vecchietti procedure at our center. DESIGN: Retrospective analysis. METHODS: Data were analyzed on the basis of short-term and long-term surgical outcome and sexual function. All patients underwent clinical follow-up at 1, 2, and 6 months after surgery. MEASUREMENTS AND MAIN RESULTS: In all 10 patients, the procedure produced anatomic and functional success. CONCLUSION: The laparoscopic Vecchietti technique is safe, simple, and effective for treatment of vaginal agenesis. Results are comparable to those of all European studies, and the procedure should gain more popularity in North America.

Paraparesis and congenital severe hyperkyphosis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A rare deformity management during the Sars-Cov-2 pandemic.

Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) syndrome can be classified into two types: type I (isolated) without extragenital abnormalities; type II (associated) with the presence of extragenital dimorphisms. Skeletal abnormalities are the second most frequent extragenital manifestations. Research question: Association between MRKH and congenital scoliosis has been described; on the contrary, hyperkyphosis is very rare and sparsely described in the medical literature. Here we report our experience in the management of thoracolumbar hyperkyphosis in 16-year-old patient diagnosed with MRKH syndrome with an acute neurological impairment due to T11-T12 disc herniation. Material and methods: Clinical and radiological images of the case were retrieved from the medical notes, operative records and imaging system. Results: Posterior surgical correction was proposed to treat the severe spinal deformity; however, surgery was delayed because of SARS-CoV2 pandemic outbreak. During the pandemic, the patient had a major clinical and radiological deterioration with development of paraparesis. Complete clinical resolution of the paraparesis and restoration of balance was achieved with a two stage surgical approach, with a first anterior stage followed by a delayed posterior approach aimed at deformity correction. Discussion: Congenital kyphosis are rare deformities that can progress rapidly leading to severe neurological deficits and worsening of the deformity. When patient has neurological deficit the surgical strategy to address the neurological problem first and plan the more complex and demanding corrective surgery remains a valid strategy that must be consider. Conclusion: This is the first reported case of hyperkyphosis in Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) syndrome surgically treated.

A case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: To study the efficacy of a novel approach to vaginoplasty in a patient with vaginal aplasia and a preserved cervix. DESIGN: We present the case of a 28-year-old patient who was referred with a history of absent menstruation and vaginal intercourse was absent as well as abnormal development of the internal genitals. The patient underwent a laparoscopic cystectomy in 2012 because of an ovarian cyst and later that year underwent laparotomic supracervical hysterectomy with bilateral salpingectomy because of severe pain caused by a hematometra in their uterine remnant. In the period from 2013 to 2016, multiple pelvic ultrasound examinations revealed a fluid structure in the pelvis. By 2020, the size of the lesion had increased to 10 cm on average. A computed tomography scan and magnetic resonance imaging showed a mucinous lesion in the lower part of the patient's pelvis resembling the cervical origin. No pathology of the urinary tract was found. A laparoscopic approach was chosen to achieve the two main goals of the patient-the possibility of vaginal intercourse and the treatment of the intraabdominal lesion. The procedure started with a vaginal step when the neovagina dissection was performed as in the classical Davydov technique up to the beginning of the dilated cervical remnant. Bilateral ureterolysis was performed laparoscopically to prevent ureteral injury. The peritoneum was widely dissected from both the anterior and posterior surfaces of the uterine cervix, which appeared as a large structure filled with typical cervical mucus. Partial dissection of the sacrouterine and ovarian ligaments on both sides was performed to mobilize the cervix. A transverse incision of the cystically dilated cervix in the cranial part was performed and the edges of the incision were brought down to the introitus of the vagina. The cervicovulvar anastomosis was fixed by separate sutures with Vicryl 2-0. SETTING: The surgery was performed in an inpatient setting equipped with conventional laparoscopic instruments, a 30-degree laparoscope, a high-definition video system, xenon light source, insufflator, irrigator, and bipolar and monopolar energy sources. PATIENT(S): A single patient, mentioned previously. INTERVENTION(S): Surgical vaginoplasty using the preserved cervix. The details are explained in the Design section. MAIN OUTCOME MEASURE(S): Restoration of the normal vaginal anatomy and function. RESULT(S): In the postoperative period, the patient did not have any postoperative complications. The urinary catheter was removed on the first postoperative day. From day 1, the patient was taught to make daily vaginal dilations with a vaginal dilator to maintain normal vaginal depth and width. The patient was discharged on day 3 after surgery. In a 3-month follow-up visit, the patient's vagina appeared normal in size with transverse folds and was very well lubricated because of the natural secretions of the cervical mucosa. The patient had been sexually active by the time of the follow-up visit. CONCLUSION(S): According to a literature search, this was the first published case of a successful neovagina creation through cervicovulvar anastomosis. Although different surgical approaches were widely discussed in previous publications of Fertility and Sterility, such as "Laparoscopic uterovaginal anastomosis in Mayer-Rokitansky-Küster-Hauser syndrome with functioning horn", "Laparoscopy-assisted Ruge procedure for the creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser syndrome", and "Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome", which were all variants of vaginoplasty with allograft, vaginal distention (Vecchietti procedure), or the use of native tissues (Davydov technique), our approach could be more feasible in the rare cases of preserved distended cervix because of less induced trauma when compared with that of cervical removal. This is because of the strong and lubricated nature of the cervical epithelium, which is already present and does not require time for epithelization.

Uterine transplantation. First viable case in Southern Europe.

INTRODUCTION AND OBJECTIVES: To describe the development and characteristics living donor uterine transplantation program of the Hospital Clínic (Barcelona, Spain) and to report the first successful procedure in Southern Europe. PATIENTS AND METHODS: A 31-year-old female suffering of Rokitansky Syndrome underwent uterus transplant from her living sister, as a part of our research protocol. Before the transplant, the patient underwent an in vitro fertilization procedure and twelve embryos were obtained and cryopreserved. The uterus obtention procedure was performed entirely by robotic surgery and lasted 10h, being the main objective to obtain arterial and venous pedicles of good quality in order to ensure the vitality of the graft. The surgical procedure in the recipient was performed by laparotomy and the vascular anastomoses were performed in a terminolateral fashion, with polypropylene 8-0, the vaginal cuff of the graft was sutured to the recipient vaginal vault and the round and utero-sacral ligaments were fixed to the remaining recipient ligaments. Immunosuppressive treatment was prescribed following the protocols from other groups modified according to the solid organ transplantation protocols from our center. RESULTS: The donor and recipient were discharged without any major complications. The recipient ultrasound scan showed a normal flow in both uterine arteries and veins. A grade II rejection was treated with high dose corticoids with subsequent normal biopsies and a vaginal stricture was treated with the placement of an esophageal stent for 4 weeks. The patient had her first menstrual period 47 days after the surgery. CONCLUSIONS: The case reported here open new options in Spain for a wide group of patients that had no medical solution for a disease that deeply impairs their quality of life.

Classical McIndoe Technique Versus the McIndoe Technique with a Neovaginal PACIENA Prosthesis® and No Skin Graft.

An observational, retrospective study was completed to compare the results of the PACIENA clinical trial (using the modified McIndoe technique) with a historical control group of nine patients who were operated on at San Juan University Hospital (1992-2015) using the classic technique. The PACIENA clinical trial included seven patients with vaginal agenesis who were operated on at two reference sites (May 2017-May 2018) using a neovaginal polylactic acid (PLA) prosthesis (PACIENA® prosthesis) and avoiding the use of a skin graft. The results illustrate a reduction in the length of surgery, 86.43 ± 4.75 min in the group with no skin graft compared to 155.56 ± 28.44 in the control group (p < 0.05); and reduction in the length of hospitalization time. Differences were also registered in the length of the neovagina, the average being 8.93 ± 1.42 cm for cases and 6.56 ± 1.13 cm for controls, with no differences in neovaginal epithelialization times or in the satisfaction of sexual relations occurring between groups. The modification of the classical McIndoe technique using the neovaginal PACIENA® prosthesis appears to be successful, obtaining good clinical results with shorter surgery and hospitalization times.

Congenital malformations and other comorbidities in 125 women with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype. STUDY DESIGN: A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015. RESULTS: Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies. Thirty-eight patients (55,9% of cases with concomitant malformations, 30,4% of the entire study group) had coexisting anomalies of at least two organ systems. The most frequent extragenital malformations were skeletal anomalies found in 40 patients (32%) and renal anomalies found in 36 patients (28,8%). Fifty-seven patients (45,6%) were diagnosed with typical form (type 1) and 16 (12,8%) with the atypical form (type 2) of MRKHS. In the other 52 patients (41,6%) we diagnosed MURCS association. Five of our patients (4%) had karyotype abnormalities. CONCLUSIONS: Our study confirms complexity and clinical heterogeneity of MRKHS. Concomitant congenital malformations are present in about half of MRKHS women. A significant proportion of patients have coexisting anomalies of at least two organ systems. The most common coexisting findings are musculoskeletal and renal abnormalities. Chromosomal aberrations may be present in patients with either typical or atypical form of MRKHS.

Neovagina con revestimiento peritoneal por laparascopia

La agenesia vaginal o Síndrome de Mayer-Rokitansky es una rara anomalía congénita, cuya prevalencia aproximada es de 1 de cada 5 000 mujeres recién nacidas. El tratamiento de estos pacientes representa un reto para el cirujano; se requieren buenos resultados cosméticos y funcionales. Se presenta el caso de una paciente de 41 años con síndrome de Mayer-Rokitansky, a la cual se le construyó una neovagina asistida por laparoscopia, según la técnica de Davydov modificada. No hubo complicaciones inmediatas o mediatas. Se obtuvo una adecuada longitud de vagina, de 7 cm una semana después de la cirugía, y adecuada función sexual seis meses después.

Vaginal agenesis or Mayer-Rokitansky syndrome is a rare congenital anomaly, with prevalence about 1 in 5 000 newborn females. Treatment is a challenge for the surgeon, in order to obtain good cosmetic and functional results. We present the case of a 41 year-old patient with Mayer-Rokitansky syndrome who underwent laparoscopic assisted neovagina according to modified Davydov technique. There were no immediate or mediate complications. An adequate vaginal length was achieved, 7 cm long a week after surgery and adequate sexual function six months later.

Hematocolpos secundario a síndrome de Rokitansky / Hematocolpos secondary to Rokitansky syndrome

El hematocolpos es una entidad que puede estar presente en adolescentes con amenorrea primaria que acuden con dolor pélvico cíclico, y al reconocerlos se palpa una masa en dicha región. En este trabajo se presenta un caso portador de síndrome de Rokitansky, con agenesia vaginal, que fue diagnosticado por los antecedentes personales de malformaciones asociadas (hipoplasia renal), manifestaciones clínicas propias del hematocolpos, examen ginecológico y estudios imagenológicos. Se decide tratamiento quirúrgico y posterior reconstrucción cérvico- vaginal. La paciente tuvo una evolución favorable

The hematocolpos is an entity that could be present in adolescents with amenorrhea came presenting with cyclic pelvic pain and in physical examination it is possible to palpate a mass in such region. In this paper authors present the case of a carrier of Rokitansky syndrome with vaginal agenesia diagnosed according the personal history of associated manifestations (renal hypoplasia), clinical manifestations typical of hematocolpos, gynecological examination and imaging studies. Authors decide to perform the surgical treatment and latter cervicovaginal posterior reconstruction. Patient had a favorable evolution