Francesca Motta

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, Schillers test, and neovaginal biopsies were performed after 6 and 12 months. Functional results were assessed with the use of Rosens 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.

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 Schillers 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.

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.

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.

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients

Mayer–Rokitansky–Küster–Hauser (MRKH) patients are characterized by congenital aplasia of the uterus and the upper part of the vagina, with normal secondary sexual characteristics. This disorders affects one in 4000–5000 females and it is classified as typical, type I or isolated, and as atypical, type II, manifesting additional malformations. To date, no specific study has addressed the question of facial features in MRKH patients. The aim of this study is to perform a dysmorphological assessment of a large cohort of patients. We studied 115 women referred to our center from 2008 to 2012. Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (MRKH type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, skeletal anomalies, and hearing impairment. Auxologic investigations comprised measurements of height, weight, BMI, head circumference, arm span, span to height ratio, hand length, middle finger length, foot length, inner and outer intercanthal distance, and auricle length. All patients had normal measurements, except for the outer canthal distance–inner canthal distance ratio, which was consistent with elongated eyelids. Women with MRKH syndromes do not present a typical facial feature and a dysmorphological examination of all patients seems unnecessary. However, a multidisciplinary approach is useful with respect to explaining the etiology, interpreting test results, and counseling.

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.

The Adult Male Rape Victim: Forensic Description of a Series of 57 Cases

Abstract A retrospective analysis on 57 adult male victims of sexual violence has been performed. Age, nationality and anamnesis of the victims, location of the assault, type of violence, number and identity of the assailants, presence of physical injuries, lapse of time between the assault and the request of medical assistance, and toxicological and semen detection tests were analyzed. Victims were mostly in the 31- to 40-year age group. Ten victims referred themselves as either active homosexuals or bisexuals. Forced oral and/or anal penetration was registered in 86.8% of cases, mostly performed by a single assailant. Anogenital injuries were recorded in 61.4% of cases, whereas extragenital injuries in 35.1%: abrasions and perianal reddening were the most frequent acute anogenital marks, whereas the head and lower limbs were the body parts most commonly affected by blunt trauma. No clinically severe injuries were found. Anal and perianal swabs for semen detection tested positive in less than 20% cases, whereas oral swabs always tested negative. When performed, nearly 50% of cases tested positive in drug tests, above all for psychoactive substances. No definite forensic diagnosis in terms of confirmation of rape was possible on the basis of type and topography of injuries.

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes. We performed chorionic villi sampling for a paternal 8;15 reciprocal translocation in the sixth pregnancy of a Caucasian woman. Cytogenetic analysis of chorionic villi, after both short- and long-term cultures, revealed the presence of the same rearrangement found in the father as well as a trisomy 15. Surprisingly, the trisomy, which was initially expected to derive from aberrant segregation during paternal meiosis, resulted instead from maternal nondisjunction. Although a sonogram of the fetus appeared to be normal, follow-up amniocentesis demonstrated a low-level mosaic trisomy 15 in cells extracted from the amniotic fluid, while 10% of cells from fetal tissues sampled after termination of the pregnancy were also found to be trisomic. Fetal autopsy showed dysmorphic features, confirming the diagnosis of mosaic trisomy 15 and enabled deeper insight into the prenatal phenotype of this rare condition.

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities

We designed a targeted-array called GOLD (Gain or Loss Detection) Chip consisting of 900 FISH-mapped non-overlapping BAC clones spanning the whole genome to enhance the coverage of 66 unique human genomic regions involved in well known microdeletion/microduplication syndromes. The array has a 10 Mb backbone to guarantee the detection of the aneuploidies, and has an implemented resolution for telomeres, and for regions involved in common genomic diseases. In order to evaluate clinical diagnostic applicability of GOLDChip, analytical validity was carried-out via retrospective analysis of DNA isolated from a series of cytogenetically normal amniocytes and cytogenetically abnormal DNA obtained from cultured amniocytes, peripheral blood and/or cell lines. We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). We set up an experimental protocol that allowed to identify chromosomal rearrangements in all the DNA samples analyzed. Our results provide evidence that our targeted BAC array can be used for the identification of the most common microdeletion syndromes and common aneuploidies.