Gorlin syndrome: two unusual cases of recurrent, bilateral, multinodular, calcified ovarian fibromas with conservative surgical treatment.

Gynecologically, NBCCS is variously associated (14%-75% cases) to typically bilateral, multinodular, calcified, ovarian fibromas. We report 2 rare cases of unusually recurrent bilateral ovarian fibromas treated with conservative surgery. Preservation of the normal ovarian tissue is always recommended, even though there is the risk of recurrences, given the benign nature of the lesions and the young age of patients.

A uterovaginal septum and imperforate hymen with a double pyocolpos.

The presence of both a uterovaginal septum and imperforate hymen is described in a young patient presenting with ongoing chronic pelvic pain and a double pyocolpos. Ultrasound and magnetic resonance imaging scans were performed. The patient underwent laparoscopic adesiolysis, hymenotomy with drainage of 200 mL of pus, and excision of a complete longitudinal vaginal septum. Over the past 5 years of regular follow-up examinations, the patient has always reported regular menstrual cycles and an absence of pelvic pain.

Davydov's procedure for the treatment of neovaginal prolapse in Rokitansky syndrome.

A 19-year-old woman with Rokitansky syndrome with neovaginal prolapse following self-dilation showed vaginal vault eversion of a 4- × 3-cm neovagina. A modified Davydov procedure was performed. No complications occurred. Vaginoscopy after 6 months showed an iodine-positive 8- × 3-cm neovagina. Functional results were assessed with the Female Sexual Function Index.

Creation of a neovagina in Rokitansky syndrome: comparison between two laparoscopic techniques.

OBJECTIVE: To compare Vecchietti's and Davydov's laparoscopic techniques for creation of a neovagina in patients with Rokitansky syndrome. DESIGN: Comparative retrospective study. SETTING: Tertiary referral center for the treatment of Rokitansky syndrome. PATIENT(S): Eighty patients with Rokitansky syndrome. INTERVENTION(S): Patients underwent surgical creation of a neovagina. Fifteen patients who underwent the Vecchietti procedure from October 2003 to December 2004 and 30 patients who underwent the Davydov procedure from June 2005 to August 2008 were also included from two previously published studies. Follow-up lasted at least 12 months. MAIN OUTCOME MEASURE(S): Intraoperative parameters and anatomic results were compared. Functional results were compared through the Female Sexual Function Index. Epithelization of the neovagina was assessed in both groups through vaginoscopy and Schiller's test. RESULT(S): No major intraoperative complications were encountered in either group. Mean (±SD) duration of surgery was 30 ± 9.6 and 134 ± 24 minutes in Vecchietti's and Davydov's approach, respectively. At 12 postoperative months, length and width of the neovagina in the two groups were 7.5 ± 1.1 and 2.8 ± 0.6 cm, and 8.5 ± 1.6 and 2.8 ± 0.65, respectively. Epithelization of the neovagina at 6-month follow-up was 60% and 80%, respectively, and 100% in both groups at 12 postoperative months. CONCLUSION(S): Anatomic and functional outcomes of the two approaches tend to be comparable at 12-month follow-up; the only significant difference seems to be in greater length for the neovagina obtained by Davydov's approach.

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

PURPOSE: The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome. METHODS: Multiplex ligation-dependent probe amplification was used to screen the subtelomeric sequences of all chromosomes in 30 patients with Mayer-Rokitansky-Küster-Hauser syndrome (sporadic, n = 27 and familial, n = 3). Segregation analysis and pyrosequencing were applied to validate the MLPA results in the informative family. RESULTS: Partial duplication of the Xpter pseudoautosomal region 1 containing the short stature homeobox (SHOX) gene was detected in five patients with Mayer-Rokitansky-Küster-Hauser syndrome (familial, n = 3 and sporadic, n = 2) and not in 53 healthy controls. The duplications were not overlapping, and SHOX was never entirely duplicated. Haplotyping in the informative family revealed that SHOX gene duplication was inherited from the unaffected father and was absent in two healthy sisters. CONCLUSIONS: Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Küster-Hauser type I syndrome.

Endometriosis in young women: the experience of GISE.

STUDY OBJECTIVE: To analyze the clinical manifestations of endometriosis in adolescents. DESIGN: prospective clinical study. SETTING: University and General hospitals. PARTICIPANTS: A total of 38 females aged < or = 21 years who had a first surgically confirmed diagnosis of endometriosis during the period including years 2005-2006 at 12 participating centers were identified. Endometriotic lesions were staged according to the 1985 revised American Fertility Society [renamed American Society for Reproductive Medicine (ASRM)] classification. RESULTS: The mean age at diagnosis was 18.6 years, except in 3 cases (7.9%) in which it was made at < or = 15 years of age. None of the patients had a prior diagnosis of genital malformations, nor were any cases of diagnosed familiarity for endometriosis. Pelvic pain was present in all cases, although in 3 cases the presence of a pelvic mass was the indication for surgery. CONCLUSIONS: The main clinical finding emerging from this analysis suggests that pelvic pain is the main symptom. In our series pain was present in all cases and an ovarian endometrioma was present in three cases. With regard to the stage and site of the disease, the frequency of minimal-mild endometriosis was lower than in adult cases observed in the experience of GISE.

Creation of a neovagina by Davydov's laparoscopic modified technique in patients with Rokitansky syndrome.

OBJECTIVE: The purpose of this study was to assess anatomic and functional results after the laparoscopic Davydov procedure for the creation of a neovagina in Rokitansky syndrome. STUDY DESIGN: Thirty patients with Rokitansky syndrome underwent the laparoscopic Davydov technique from June 2005-August 2008. Mean follow-up time lasted 30 months (range, 6-44 months) and included clinical examinations and evaluation of the quality of sexual intercourse; vaginoscopy, Schiller's test, and neovaginal biopsies were performed after 6 and 12 months. Functional results were assessed with the use of Rosen's Female Sexual Function Index and were compared with age-matched normal control subjects. RESULTS: No perioperative complications occurred. At 6 months, anatomic success was achieved in 97% of the patients (n = 29); functional success and optimal results for the Female Sexual Function Index questionnaire were obtained in 96% of patients. Vaginoscopy and biopsy results showed a normal iodine-positive vaginal epithelium. CONCLUSION: The Davydov technique seems to be a safe and effective treatment for vaginal agenesis in patients with Rokitansky syndrome.

Umbilical endometriosis: a radical excision with laparoscopic assistance.

BACKGROUND: Umbilical endometriosis represents the most common site of cutaneous endometriosis. Although its treatment is typically surgical, in literature the approach used is variable and extends from diathermocoagulation to omphalectomy. Such superficial treatments for umbilical endometriosis can predispose the patient to a relapse of the disease. We here present seven cases of umbilical endometriosis treated with radical surgery with a laparoscopically-assisted approach, with a complete and long-term disease-free follow-up. CASES: Seven cases of umbilical endometriosis, four of which relapsing from a prior superficial treatment, were treated radically with a laparoscopically-assisted approach, with a long-term disease-free follow-up. CONCLUSION: Although a medical treatment can be considered, the treatment of choice in these patients should be that of excisional surgery so as to avoid lesion relapse and the risk of oncogenic transformation. Despite umbilical endometriosis is a rare finding, this relatively small case series treated by laparoscopically-assisted omphalectomy shows a complete resolution of the lesion and symptoms along with good aesthetic results at a long-term follow-up.

Creation of a neovagina in Rokitansky patients with a pelvic kidney: comparison of long-term results of the modified Vecchietti and McIndoe techniques.

OBJECTIVE: To evaluate perioperative data and long-term results of Rokitansky patients with a pelvic kidney that underwent the McIndoe and modified Vecchietti procedures. DESIGN: Retrospective descriptive study. SETTING: A tertiary referral center for the study and treatment of Rokitansky syndrome. PATIENT(S): Eleven patients with Rokitansky syndrome. INTERVENTION(S): Two and nine patients, respectively, underwent the McIndoe and Vecchietti modified techniques. MAIN OUTCOME MEASURE(S): Anatomic success was defined as a neovagina > or =6 cm long allowing easy introduction of two fingers within 6 months postoperatively. Functional success was considered achieved when the patient reported satisfactory sexual intercourse starting from 6 months postoperatively. RESULT(S): Surgery was performed with no complications in all 11 patients. The mean duration of surgery was 190 +/- 14.1 minutes in the first group and 32 +/- 6.4 minutes in the second group. At 14 years of follow-up, both patients who underwent McIndoe vaginoplasty had a mean +/- SD length and width of 8.2 +/- 0.4 cm and 5 cm and negative Schiller's test 24 months postoperatively. At 4 years of follow-up, eight out of the nine patients who underwent the Vecchietti procedure (89%) had a mean +/- SD length and width of the neovagina of 7.4 +/- 0.6 cm and 4.2 +/- 0.5 cm and iodine-positive vaginal-type epithelium coating 100% of the neovagina 24 months postoperatively. CONCLUSION(S): While appearing to be safe, effective, and with optimal functional results, the modified Vecchietti approach also seems to yield good anatomical and aesthetic results along with shorter surgical and hospitalization times.

Pelvic endometriosis and hydroureteronephrosis.

OBJECTIVE: To assess whether routine renal ultrasonography may be recommended in all patients with pelvic endometriosis, in order to avoid silent ureteral involvement of the disease. DESIGN: Retrospective descriptive study. SETTINGS: Tertiary center for the treatment of endometriosis at the Department of Obstetrics and Gynecology of the State University of Milan, Milan, Italy. PATIENT(S): Seven-hundred-fifty patients with a primary diagnosis of endometriosis, between January 2005 and July 2007. INTERVENTION(S): Routine urinary ultrasound; recording of patient history, signs, and symptoms; gynecologic examination; blood and urinary analyses; magnetic resonance imaging; spiral multislice computerized tomography. MAIN OUTCOME MEASURE(S): Symptoms and signs of ureterohydronephrosis; diagnosis of ureterohydronephrosis. RESULT(S): Twenty-three patients (3%) of all 750 patients with endometriosis had associated ureterohydronephrosis diagnosed at renal ultrasound. Symptoms secondary to ureteral and renal involvement were present in 10 patients (43.5%); 6 reported lumbar pain (26.1%) and 4 patients (17.4%) had renal colic. CONCLUSION(S): In our study, the high number (56.5%) of asymptomatic ureteral involvement in patients with known pelvic endometriosis seems to warrant the need for further investigations regarding the possibility to avoid the high percentage of silent renal losses. Unfortunately there appears to be no specific risk factor to allow for early suspicion nor a validated preventive diagnostic and therapeutic program. It remains to be evaluated whether urinary ultrasound ensures a beneficial cost-benefit ratio if employed on a routine basis.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. METHODS AND RESULTS: we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. CONCLUSION: Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

The unicornuate uterus with an occult adenomyotic rudimentary horn.

We report 2 case of an atypical variant of unicornuate uterus in 2 adolescent patients with severe dysmenorrhea. Pelvic ultrasonography and magnetic resonance imaging identified a normal uterine contour. On the right side within the uterine fundus, a nodule was detected with a small hypoechogenic content. At laparoscopy the uterus and adnexae appeared to be normal. No endometriotic lesions were identified. Hysteroscopy identified a single regular cervical canal and a uterine cavity resembling that of a left unicornuate uterus, with a single regular left tubal ostium. Complete resection of the right uterine nodule along with an ipsilateral salpingectomy was performed. The nodule contained a small endometrial cavity and hematometra. Histologic study showed a cavitated adenomyotic uterine rudiment. The patients were discharged on the second postoperative day. No intraoperative or postoperative complications or recurrence of pelvic pain occurred.

Multiple extrauterine adenomyomas and uterus-like masses: case reports and review of the literature.

OBJECTIVE: To describe two rare cases of multiple extrauterine adenomyomas, their clinical management, and their response to surgical and hormone therapy with GnRH agonist. DESIGN: Case report and review of the English-language scientific literature. SETTING: Cases presented in a tertiary health care academic institution. PATIENT(S): Two patients without urogenital malformations diagnosed with extrauterine adenomyoma, which is a benign tumor composed of smooth muscle and endometrium, typically originating within the uterus. INTERVENTION(S): Surgical radical excision of adenomyomas followed by a long-term hormone therapy with GnRH agonist. MAIN OUTCOME MEASURE(S): Anatomical and clinical outcomes. RESULT(S): Surgical treatment followed by long-term GnRH agonist therapy appeared effective in keeping the disease stable. After a long-term follow-up of 10 and 4 years, the two patients are still asymptomatic and stable. CONCLUSION(S): Only 19 other cases of extrauterine adenomyomas are reported in the English-language scientific literature, and no cases of multiple masses are described until now. It is probable that these extrauterine adenomyomas arose from a metaplastic transformation of the subcelomic mesenchyme. Long-term GnRH agonist therapy after surgery appeared effective in keeping the disease stable.

New drugs in development for the treatment of endometriosis.

Endometriosis is a common and enigmatic disease causing pelvic pain and infertility. Current treatment is mainly based on the use of surgery and ovarian suppressive agents. There is in particular the need for new therapeutic options able to allow a normal menstrual cycle to occur and also consent pregnancy. In the present review, we aimed to give a concise and practical overview in order to allow the clinician to clearly understand the level of development of these drugs. We have presented only treatments supported by in vivo researches with a special attention to studies in humans. Results show appealing new possibilities are emerging from agents counteracting the endometriosis-associated inflammation. Recent data also suggests that there is still the opportunity to refine the use of already available agents.

The laparoscopic Vecchietti's modified technique in Rokitansky syndrome: anatomic, functional, and sexual long-term results.

OBJECTIVE: The objective of the study was to assess the anatomical and functional long-term follow-up results of the laparoscopic Vecchietti approach for the creation of a neovagina in the Rokitansky syndrome. STUDY DESIGN: One hundred ten patients underwent clinical follow-up visits at 1, 3, 6, and 12 months after surgery and every 6 months thereafter. The following were performed: evaluation of the quality of sexual intercourse, vaginal and rectal examinations, vaginoscopy, Schiller's test, and vaginal cytology with microbiologic testing. Functional results were assessed by using Rosen's Female Sexual Function Index questionnaire, of which the results were analyzed comparing normal age-matched controls. RESULTS: Four patients were lost to follow-up. Anatomic and functional success was achieved in 104 of 106 (98%) and 103 of 106 (97%) patients, respectively. Female Sexual Function Index scores were comparable with those of controls. CONCLUSION: Vecchietti's technique is simple, safe, and effective and allows normal and satisfying sexual intercourse, comparable with that of normal controls.

A gonadotropin-releasing hormone agonist versus a continuous oral contraceptive pill in the treatment of bladder endometriosis.

A prospective comparative clinical trial was done in a tertiary referral center for the treatment of endometriosis in 10 patients with bladder detrusor endometriosis: five were treated with a continuous oral contraceptive (OC) and another five with a GnRH agonist. Continuous OC therapy may be effective in the short-term treatment of bladder endometriosis.

Use of an endoscopic ultrasound probe for the evaluation of the Müllerian rudiments in patients with Rokitansky syndrome.

OBJECTIVE: To assess the use of an endoscopic ultrasound probe in the evaluation of the uterine horns in a series of patients who were undergoing laparoscopy for the creation of a neovagina. DESIGN: Prospective study. SETTING: Department of Obstetrics and Gynecology in a tertiary care and referral center for Rokitansky syndrome. PATIENT(S): Thirty patients with Rokitansky syndrome who were undergoing laparoscopically assisted creation of a neovagina. INTERVENTION(S): Preoperative assessment with a pelvic transabdominal ultrasound scan and pelvic magnetic resonance imaging (MRI). An endoscopic ultrasound probe was used to study the uterine horns during laparoscopy. MAIN OUTCOME MEASURE(S): Presence or absence of the uterine rudiments, presence or absence of the endometrial cavity, and Doppler ultrasound vascularization of the rudiments. RESULT(S): Of the 24 uterine horns sized >or=2 cm that were identified at endoscopic ultrasound, 22 and 19, respectively, had been recognized at MRI and transabdominal ultrasound scan. The endoscopic ultrasound probe diagnosed 12 cavitated horns, of which 9 and 7 were seen at MRI and transabdominal ultrasound scan, respectively. CONCLUSION(S): Our experience shows the feasibility and accuracy of the endoscopic ultrasound probe in evaluating the structure of the rudimentary uterine horns in Rokitansky syndrome.

Laparoscopically assisted uterovestibular anastomosis in patients with uterine cervix atresia and vaginal aplasia.

OBJECTIVE: To describe the surgical technique and the long-term anatomic and functional results of laparoscopically assisted uterovestibular anastomosis. DESIGN: Descriptive study. SETTING: Tertiary referral center. PATIENT(S): Twelve consecutive patients with uterine cervix atresia and vaginal aplasia. INTERVENTION(S): Laparoscopically assisted uterovestibular anastomosis was performed in all patients. Follow-up assessments at 1, 6, and 12 months included pelvic examination, transvaginal ultrasonography, and, in selected cases, vaginoscopy and hysteroscopy. Subsequent follow up was done by referring physicians or by means of telephone interview. Mean follow-up was 6 years. MAIN OUTCOME MEASURE(S): Intra- and postoperative characteristics and anatomic and functional outcome. RESULT(S): The surgical procedure was successful in all cases and all of the women have experienced regular menstruation. At 6-month follow-up, mean vaginal length was 6 cm and at least 80% of neovaginal epithelium was iodine-positive in all patients. Six women were sexually active during follow-up without difficulty. None have yet attempted to seek a pregnancy. CONCLUSION(S): The study shows the safety and effectiveness of a laparoscopic approach to uterovestibular anastomosis in women with cervical atresia and vaginal aplasia. In these patients, we believe that conservative surgery should represent the first therapeutic option. A longer follow-up is needed to assess pregnancy rates and outcome.