[Sexual functional outcomes of vaginal dilation therapy for MRKH syndrome: a prospective study].

Objectives: To report the sexual functional outcomes of vaginal dilation therapy in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients. Methods: From March 2020 to February 2023, 97 MRKH syndrome patients performed vaginal dilation therapy with guidance from Peking Union Medical College Hospital, and 45 of them engaged in penetrative intercourse and were included in this prospective cohort study. The Chinese version of female sexual function index (FSFI) was used to assess sexual function. Functional success was defined as FSFI>23.45. Forty age-matched healthy women were selected as controls. Kaplan-Meier survival analysis was used to calculate the median time to success. Pearson correlation analysis was used to explore the relationship between neovagina length and sexual function. Complications were collected using follow-up questionnaires. Results: The functional success rate of vaginal dilation therapy was 89% (40/45) with a median time to success of 4.3 months (95%CI: 3.0-6.1 months). Compared to controls, MRKH syndrome patients had significantly lower scores in the orgasm domain (4.72±1.01 vs 4.09±1.20; P=0.013) and pain domain (5.03±0.96 vs 4.26±0.83; P<0.001). However, there were no significant differences in the FSFI total score (26.77±2.70 vs 26.70±2.33; P=0.912), arousal domain (4.43±0.77 vs 4.56±0.63; P=0.422) and satisfaction domain (4.88±0.98 vs 4.65±0.86; P=0.269) between MRKH syndrome patients and controls. MRKH syndrome patients had significantly higher scores in the desire domain (3.33±0.85 vs 3.95±0.73; P<0.001) and lubrication domain (4.37±0.56 vs 5.20±0.67; P<0.001). The prevalence of sexual dysfunction in MRKH patients was non-inferior to controls: low desire [3% (1/40) vs 23% (9/40); P=0.007], arousal disorder [3% (1/40) vs 3% (1/40); P>0.999], lubrication disorder [5% (2/40) vs 25% (10/40); P=0.012], orgasm disorder [40% (16/40) vs 20% (8/40); P=0.051], sexual pain [30% (12/40) vs 15% (6/40); P=0.108]. Conclusions: MRKH syndrome patients undergoing non-invasive vaginal dilation therapy could achieve satisfactory sexual life. Given its high functional success rate and slight complication, vaginal dilation therapy should be recommended as the first-line option, reducing the need for unnecessary surgeries.

The Sexuality of Adolescents and Young Women With MRKH Syndrome: A Qualitative Study.

BACKGROUND: Vaginal agenesis, most commonly referred as Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, is mostly diagnosed as primary amenorrhea in teenage girls; although there is plenty of literature concerning the formation of a neovagina, limited research has focused on the psychological burden of this diagnosis to the girls. AIM: To enlighten health providers into the finer aspects of sexuality through the own words and experiences of girls with MRKH under our care. METHODS: Women currently undergoing vaginal dilation or who had completed vaginal dilation within the past year were recruited from February 2019 to January 2020. A gynecologist with training in Sexual Medicine conducted a semistructured interview, which was recorded and then transcribed to identify common themes among interviewees. OUTCOMES: The main outcome explored was the narrative experiences of women with MRKH. RESULTS: 7 women participated, with a mean age of 19.7 (range 17-22 years). None of the girls felt stigmatized, however one reported significant distress at diagnosis, stemming from the attitude of health care professionals and exacerbated by an earlier age at disclosure. All girls accepted that VDT was successful, when it was initiated after they had felt sexual interest and arousal. Exact quantification of the vaginal length at onset, worried 4 as they felt pressurized to achieve a specific length. A few girls reported anxiety over sharing the diagnosis with an intimate partner. All of them pretended at some point to have menses. Childbearing was an important issue for most of the interviewees, but it did not concern them for the time being. All girls had supporting families. However, 5 did not want to share information about VDT with them. One girl reported that openness in discussing genital anatomy, VDT and sexuality, helped her both in completing treatment and adapting in a sexual relationship. CLINICAL IMPLICATIONS: A multidisciplinary team should aim for age-appropriate disclosure and consultation and guide women through VDT and their sexual relations. STRENGTHS AND LIMITATIONS: This is a thorough account of women's perceptions regarding VDT and sexuality in MRKH. However, our conclusions may be limited by the small number of participants. CONCLUSION: Gradual provision of information at disclosure and adjusted timing at VDT may reduce stress in girls with MRKH. Tsitoura A, Michala L. The Sexuality of Adolescents and Young Women With MRKH Syndrome: A Qualitative Study. J Sex Med 2021;18:2012-2019.

An alternative approach to vaginal dilation in patients with Meyer-Rokitanski-Küster-Hauser syndrome: two case reports.

Vaginal dilation, currently considered as the first-line therapy for vaginal aplasia in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a safe and effective treatment that aims to create a functional neovagina. However, rigid vaginal dilators classically described in the literature usually cause physical discomfort and side effects that can lead to vaginal necrosis. Here, we present two cases of MRKH syndrome patients with vaginal agenesis whose main complaint was the inability to have sexual intercourse with their partners. Considering unavailability of acrylic dilators and previous studies reporting good responses with the use of silicone dilators in women with post-radiotherapy vaginal stenosis, the medical team and patients opted for creation of a neovagina through the daily use of silicone vaginal dilators. Patient 1 developed an 8-cm vagina after 6 months of treatment and had a satisfactory sex life with her partner. Patient 2 developed a 7-cm vagina and reported significant symptom improvement. None of the patients developed side effects after the treatment. The use of inexpensive and easily accessible silicone vaginal dilators may be an effective and noninvasive alternative with few side effects for women with vaginal agenesis, particularly in the developing countries.

Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome.

STUDY OBJECTIVE: To evaluate the treatment of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a combination of oocyte retrieval and surgical vaginoplasty in a single laparoscopic procedure. DESIGN: A case series. SETTING: The study was conducted at 2 tertiary referral facilities for MRKH syndrome in Milan, Italy, between July 2017 and September 2018. PATIENTS: Eleven patients presented with MRKH and required surgical vaginoplasty while expressing a desire for future fertility. INTERVENTIONS: Two experienced surgeons and an expert in assisted reproductive technology performed concomitant vaginoplasty according to the modified technique of Davydov and laparoscopic oocyte retrieval for gamete cryopreservation. MEASUREMENTS AND MAIN RESULTS: Before the procedure, patients underwent extensive counseling and gave written consent. At the start of surgery, 10.4 ± 4.4 (mean ± standard deviation [SD]) oocytes were retrieved laparoscopically, and 8.8 ± 3.1 (SD) mean mature oocytes were cryopreserved. After oocyte retrieval, the steps of the modified Davydov technique were followed. The total operative time was 116 ± 16 minutes (mean ± SD), and no intraoperative/postoperative complications were observed. CONCLUSION: This is the first report of combined oocyte retrieval and vaginoplasty for patients with MRKH syndrome. The approach was found to be feasible in patients with a desire for future fertility. It is our belief that physicians treating patients with MRKH should refer patients to centers with expertise in both vaginoplasty and assisted reproductive technology.

Four cases of Mayer-Rokitansky-Küster-Hauser syndrome treated via non-surgical vaginal reconstruction using uterine cervical dilators.

Vaginal creation is the standard treatment for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Although non-surgical method is recommended as a first-line treatment in the American College of Obstetricians and Gynecologists guidelines for gynecological practice, it is not commonly performed in Japan. At our hospital, vaginal dilation using uterine cervical dilators (Hegar's dilator) is performed for patients with MRKH syndrome. We report four cases successfully treated with vaginal dilation. After the examination, patients were instructed to practice daily self-dilation at home. The initiation size was No. 13 with 10.5-mm diameter. After the vaginal cavity was dilated to a depth of 6 cm, the size of dilators was gradually increased until No. 30 with 25-mm diameter in a tip and 28-mm diameter in a trunk. The duration required to achieve the outcome was 5-22 months. All cases were successfully treated without any severe complication.

Exosomes derived from human umbilical cord mesenchymal stem cells accelerate growth of VK2 vaginal epithelial cells through MicroRNAs in vitro.

STUDY QUESTION: Could human umbilical cord mesenchymal stem cell-derived exosomes (hucMSC-Ex) accelerate vaginal epithelium cell (VK2) growth? SUMMARY ANSWER: HucMSC-Ex play a significant role in promoting proliferation of VK2 cells by accelerating the cell cycle and inhibiting apoptosis through exosomal microRNAs in vitro. WHAT IS KNOWN ALREADY: Numerous studies have reported that MSC-Ex play an important role in tissue injury repair. STUDY DESIGN, SIZE, DURATION: hucMSC and exosomes isolated from their conditioned medium were used to treat a vaginal epithelial cell line (VK2). Normal human fibroblasts (HFF-1) were used as negative control to hucMSC. PARTICIPANTS/MATERIALS, SETTING, METHODS: VK2 cells were co-cultured with hucMSC whose paracrine effect on the viability, cell cycle and cell apoptosis of VK2 vaginal epithelial cells was further assessed by the CCK-8 assay and flow cytometry. HucMSC-Ex isolated from culture medium by ultracentrifuge were characterized by transmission electron microscopy, nanoparticle tracking analysis and Western blot. HucMSC-Ex at different concentrations and HFF-1 exosomes were used to treat VK2 cells. High-throughput RNA sequencing was utilized to reveal the profile of microRNAs in hucMSC, hucMSC-Ex, HFF-1 and HFF-1 exosomes and GO analysis was applied to demonstrate their functions. To evaluate the function of these specific microRNAs in hucMSC-Ex, VK2 cells were treated with RNA-interfered-hucMSC-Ex (RNAi-hucMSC-Ex) and their proliferation was measured by Label-free Real-time Cellular Analysis System. MAIN RESULTS AND THE ROLE OF CHANCE: The study showed that hucMSC stimulate VK2 cell growth possibly through a paracrine route by promoting cell cycle and inhibiting apoptosis. Compared with control and low dose groups, hucMSC-Ex of high concentration (more than 1000 ng/ml) significantly increased VK2's growth after treatment in a dose-depended manner (P < 0.05). HucMSC-Ex raised the proportion of cells in S-phase and reduced the percentage of apoptotic cells in VK2 cells in comparison with the HFF-1 exosomes and control groups (P < 0.05). microRNAs, including miR-100 (16.92%), miR-146a (9.21%), miR-21 (6.67%), miR-221 (6.39%) and miR-143 (4.63%), were found to be specifically enriched (P < 0.05) in hucMSC-Ex and their functions concentrated on cell cycle, development and differentiation. Collectively, our findings indicate that hucMSC-Ex may play a significant role in accelerating VK2's proliferation by promoting cell cycle and inhibiting apoptosis through exosomal microRNAs in vitro. LARGE-SCALE DATA: N/A. LIMITATIONS, REASONS FOR CAUTION: Our study did not confirm the function of hucMSC-Ex or specifically enriched exosomal microRNAs in vivo. miR-100 and miR-146a are well-known immunomodulatory miRNAs that participate in the regulation of inflammatory disorders and may enhance the therapeutic effect of hucMSC-Ex by promoting the surgical injury repair after vaginal reconstruction. But whether it acts through anti-inflammatory responses needs further study. WIDER IMPLICATIONS OF THE FINDINGS: This finding supports the potential use of hucMSC-Ex as a cell-free therapy of Meyer-Rokitansky-Küster-Hauser syndrome (MRKHS) after vaginoplasty. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by the Chinese National Nature Sciences Foundation (grant number 91440107, 81471416 and 81771524) and the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB19040102). All authors state that there is no conflict of interest to disclose.

Sexual satisfaction in patients with Mayer-Rokitansky-Küster-Hauser syndrome after surgical and non-surgical techniques: a systematic review.

INTRODUCTION AND HYPOTHESIS: The treatment and mental support of patients with Mayer-Rokitansky-Küster-Hauser syndrome are very important. Many of these patients seek treatment to improve their sexual relationships and the quality of their sexual life. This systematic review sought to evaluate the sexual satisfaction of patients with MRKH syndrome following various types of vaginoplasty and non-surgical procedures over the past 10 years. METHODS: A systematic review of studies published in English during 2008-2018 was performed. Electronic databases and valid sites, including PubMed, EMBASE, Science Direct, Cochrane Library, SCOPUS, Ovid, and ProQuest, were searched for articles published from the beginning of 2008 to February 2018. Literature restricted to women with Mayer-Rokitansky-Küster-Hauser syndrome who underwent vaginoplasty surgery or a non-surgical technique was reviewed. Of 195 papers identified, 45 articles were analyzed. All studies that reported sexual and functional outcomes following various vaginoplasty procedures and non-surgical procedures were selected. RESULTS: Greater vaginal length and higher sexual satisfaction were observed following surgical procedures than after non-surgical techniques. A range of complications was reported following the use of different surgical approaches. The Female Sexual Function Index (FSFI) was the most commonly applied tool to measure sexual satisfaction, but its results were not always in agreement with the findings of other research tools. Finally, women who underwent surgical techniques had higher sexual activity levels than those who received non-surgical procedures. CONCLUSION: The reviewed studies highlighted the need for further quantitative and qualitative research on the sexual performance and outcomes of patients with MRKH syndrome. REGISTRATION NUMBER: None.

Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases.

To explore the clinical features and assisted reproductive technology (ART) outcomes of 46,XX disorders of sex development (DSD) males, 144 males with 46,XX DSD were recruited in this retrospective study. The baseline information, clinical characteristics and ART outcomes of the participants were collected and analysed. The mean age was 29.06 ± 4.50 years. The mean volumes (95% CI) of left and right testicles were 2.16 (1.82-2.49) ml and 2.16 (1.83-2.49) ml, respectively. Cryptorchidism and/or hypospadias appeared in 19 patients (13.19%). Elevated levels of follicle-stimulating hormone (FSH) were found in 136 patients (95.10%) and increased luteinising hormone (LH) values were detected in 125 patients (92.59%). Eighty subjects (62.99%) had low testosterone values. Among 86 patients with status of sex-determining region Y (SRY)-gene and azoospermia factor (AZF) region available, fifteen (17.44%) patients were SRY-negative and AZF region was absent in every patient without exception. Additionally, fertility achieved in 87 patients through ART using donor spermatozoa. In conclusion, hypergonadotropic hypogonadism appeared as the main presentation of 46,XX DSD males regardless of the SRY status. The available fertility option proved to achieve live birth was limited to ART using donor spermatozoa.

Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.

BACKGROUND: Vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome can be managed either by various surgeries or dilation. The choice still depends on surgeon's preferences rather than on quality comparative studies and validated protocols. OBJECTIVE: We sought to compare dilation and surgical management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome, in terms of quality of life, anatomical results, and complications in a large multicenter population. STUDY DESIGN: Our multicenter study included 131 patients >18 years, at least 1 year after completing vaginal agenesis management. All had an independent gynecological evaluation including a standardized pelvic exam, and completed the World Health Organization Quality of Life instrument (general quality of life) as well as the Female Sexual Function Index and Female Sexual Distress Scale-Revised (sexual quality of life) scales. Groups were: surgery (N = 84), dilation therapy (N = 26), and intercourse (N = 20). One patient was secondarily excluded because of incomplete surgical data. For statistics, data were compared using analysis of variance, Student, Kruskal-Wallis, Wilcoxon, and Student exact test. RESULTS: Mean age was 26.5 ± 5.5 years at inclusion. In all groups, World Health Organization Quality of Life scores were not different between patients and the general population except for lower psychosocial health and social relationship scores (which were not different between groups). Global Female Sexual Function Index scores were significantly lower in the surgery and dilation therapy groups (median 26 range [2.8-34.8] and 24.7 [2.6-34.4], respectively) than the intercourse group (30.2 [7.8-34.8], P = .044), which had a higher score only in the satisfaction dimension (P = .004). However, the scores in the other dimensions of Female Sexual Function Index were not different between groups. The Female Sexual Distress Scale-Revised median scores were, respectively, 17 [0-52], 20 [0-47], and 10 [10-40] in the surgery, dilation therapy, and intercourse groups (P = .38), with sexual distress in 71% of patients. Median vaginal depth was shorter in dilatation therapy group (9.6 cm [5.5-12]) compared to surgery group (11 cm [6-15]) and intercourse group (11 cm [6-12.5]) (P = .039), but remained within normal ranges. One bias in the surgery group was the high number of sigmoid vaginoplasties (57/84, 68%), but no differences were observed between surgeries. Only 4 patients achieved vaginas <6.5 cm. Delay between management and first intercourse was 6 months (not significant). Seventy patients (53%) had dyspareunia (not significant), and 17 patients all from the surgery group had an abnormal pelvic exam. In the surgery group, 34 patients (40.5%) had complications, requiring 20 secondary surgeries in 17 patients, and 35 (42%) needed postoperative dilation. In the dilation therapy group, 13 (50%) needed maintenance dilation. CONCLUSION: Surgery is not superior to therapeutic or intercourse dilation, bears complications, and should therefore be only a second-line treatment. Psychological counseling is mandatory at diagnosis and during therapeutic management.

Sexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgical neovagina.

BACKGROUND: Sexual dysfunction is prevalent in women with Mayer-Rokitansky-Küster-Hauser syndrome after the creation of a neovagina. Insight into the physiologic response of the neovagina during sexual arousal is lacking, although this would help in the understanding of sexual function of these patients. The physiologic sexual response of the vagina can be measured objectively by vaginal photoplethysmography to assess vaginal blood flow. OBJECTIVE: Testing whether the physiologic and subjective sexual response in women with Mayer-Rokitansky-Küster-Hauser syndrome with a neovagina differs from the response in women with a natal vagina. STUDY DESIGN: Vaginal blood flow (vaginal pulse amplitude) and subjective sexual responses during neutral and erotic film viewing were assessed in premenopausal women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgically created neovagina (n=15) and were compared with responses of an age-matched control group (n=21). RESULTS: All women with Mayer-Rokitansky-Küster-Hauser syndrome had created their neovagina themselves by dilation. Women with Mayer-Rokitansky-Küster-Hauser syndrome showed a significantly smaller vaginal pulse amplitude compared with control subjects during neutral film viewing (P=.002). In both groups, vaginal pulse amplitude increased significantly during erotic film viewing, but this increase was significantly smaller in the Mayer-Rokitansky-Küster-Hauser syndrome group (P<.005). Levels of subjective sexual arousal did not significantly differ between the 2 groups (P>.2). CONCLUSION: Women with Mayer-Rokitansky-Küster-Hauser syndrome with a nonsurgically created neovagina showed a weaker vaginal blood flow response during visual sexual stimulation and poorer basal blood flow compared with control subjects. The differences in vaginal blood flow may be related to less vascularization and innervation of the neovagina compared with the natal vagina. The weaker vaginal sexual response can play a role in sexual dysfunction; however, despite the weaker vaginal response, women with Mayer-Rokitansky-Küster-Hauser syndrome did not differ in their level of subjective sexual arousal. Future studies may compare vaginal blood flow and subjective sexual response of women with Mayer-Rokitansky-Küster-Hauser syndrome with nonsurgically and surgically created vaginas.

Intensive vaginal dilation using adjuvant treatments in women with Mayer-Rokitansky-Kuster-Hauser syndrome: retrospective cohort study.

AIMS: To evaluate the effect of adjuvants during intensive vaginal dilator therapy for functional and anatomical neovagina creation in women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). METHODS: This retrospective cohort study included 75 women with MRKH undergoing intensive vaginal dilator treatment between 2000 and 2014. One specialist nurse performed non-surgical vaginal dilation aided by adjuvants, during inpatient admissions for several dilation sessions per day. Following discharge, women continued dilation at home and were advised to attend fortnightly follow-up appointments. RESULTS: Outcomes from 68 women were analysed. The median age of starting treatment was 18 years (range: 13-36). There was a mean of 3 days per admission (range 1-5) with a median of 10 dilation sessions per admission. Adjuvant treatment was used by 48/68 (71%) women: oestriol cream 29/68 (43%), 50:50 nitrous oxide and oxygen 44/68 (65%), diazepam 8/68 (12%), lidocaine ointment 26/68 (39%), paracetamol 35/68 (51%) and naproxen 2/68 (3%). There were no statistically significant differences for changes in vaginal parameters. Women receiving adjuvants had a median increase of 4.5 cm (0.5-7 cm) in neovaginal length compared with women not receiving adjuvants who had a median increase of 3.25 cm (0-7 cm) during intensive treatment. Women who received adjuvants tolerated more dilation sessions per day (10 vs 6.5 median sessions respectively) than those who did not (P < 0.001). Of those with documented length at discharge, 42/56 (75%) women had an anatomical neovagina of 7 cm or greater length. CONCLUSIONS: Vaginal dilation delivered by intensive treatment and supplemented by adjuvant treatments in a multi-disciplinary centre is a rapid and effective method for creation of a neovagina in women with MRKH.

The reproductive potential of patients with Mayer-Rokitansky-Küster-Hauser syndrome using gestational surrogacy: a systematic review.

Women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome may reproduce after uterine transplantation or IVF using a gestational surrogate. As uterine transplantation is still an experimental procedure, data on their clinical outcome using assisted reproduction techniques are imperative to allow evidence-based counselling. For this purpose, a systematic non-restricted electronic literature search was conducted. The 14 studies included in this review were published between 1988 and 2011. From a cohort of 140 patients with MRKH syndrome, mostly from the the USA and Israel, only four studies contained data on more than 10 patients; the others were case reports or small series. In the studies reviewed, 125 patients underwent 369 cycles of IVF with gestational surrogacy, and delivered 71 newborns. The reporting of outcome of patients with MRKH syndrome undergoing assisted reproduction techniques in the available literature is less than optimal and is characterized by bias of publication, inconsistent reports, including few patients, treated over a long time span, and lacking systematic reports from large IVF centres. None of the national registries contain specific outcome data on patients with MRKH syndrome. The paucity of data limits the possibility to draw firm conclusions but substantiates the need for a systematic multicentre reporting system.

[CONSERVATIVE TREATMENT OF MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME. REVIEW OF LITERATURE AND OUR EXPERIENCE].

Mayer-Rokitansky-Küster-Hauser syndrome is a part of the group of abnormalities known as "Anomalies of the fusion of the Müllerian ducts". It is characterized by normal development of breasts and hairs, normal appearance of external genitalia, normal feminine genotype (46XX), normal FSH, LH, E2 and Test. levels, normal ovaries and congenital absence of uterus and the whole or the upper two thirds of the vagina. It is observed in about 15% of the cases with primary amenorrhea and the incidence is about 1:4500-6000. Etiologycal factors such as lack of estrogen/gestagen receptors, deletions or mutations of genes that stop the fusion, as well as the activation of anti-Müllerian hormone (AMH), are considered. The etiology is being explored but there is no consensus yet. The diagnosis is confirmed during a clinical examination, which takes place because of a primary amenorrhea (often happening at the age of 16), and the absence of a uterus and vagina is proved. The therapy should be handled by a multidisciplinary team including obstetrician, trained midwife, psychologist, specialist in imaging and psycho-sexual counseling. The idea for surgical creation of vagina (neovagina) dates many years ago. The first known documents date back to 1817 and over the years a variety of methods are offered usage of amnion, dura mater, peritoneum, skin grafts, different parts of the intestine, cellulose, etc. The first method of non-surgical treatment is offered by the Czech gynecologist Frank. His ambition was to build a vagina by gradual dilatation of the tissue while applying dilatators with successively increasing length and thickness. The method was further developed by Ingram (1981) and nowadays by Edmonds (2012). He reported about 245 patients treated during the last 12 years by his team. 232 of them had a success in anatomic aspect (95%), 13 did not complete the treatment due to psychological or cultural problems. The experts from American College of Obstetricians and Gynecologists include in their "Committee Opinion" from May 2013 the following lines: "Non-surgical creation of the vagina is the appropriate first line approach in most patients". Briefly is presented our experience in this field--14 girls at the age of 16-18, successfully treated with dilatation in the III Gynecology Clinic in University hospital "Maichin dom", Sofia, Bulgaria.

[Mayer-Rokitansky-Küster-Hauser syndrome: two cases report]. / Síndrome de Mayer-Rokitansky-Küster-Hauser. Reporte de dos casos.

Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

Primary amenorrhea in adolescent girls: normal coitus or not? Always take a look in the physician's office.

BACKGROUND: Primary care physicians are frequently faced with the challenge of evaluating primary amenorrhea in adolescent girls. Approximately 15% of these women have abnormal genital examination, with Müllerian agenesis being the second most frequent cause. We report two cases of adolescents with Müllerian agenesis that presented to a tertiary adolescent medicine center with primary amenorrhea and the very rare sexual phenomenon of urethral coitus. The aim of this report is to emphasize the importance of performing a genital examination in girls who present with amenorrhea in the primary care setting, even if 'normal' vaginal sexual activity is assumed. CASE PRESENTATIONS: A 19-year-old Caucasian and a 16-year-old Filipino girl presented to a tertiary adolescent medicine center with primary amenorrhea and a history of 'normal' vaginal coitus. Investigation revealed Müllerian agenesis in association with urethral coitus in both cases; neither patient suffered significant urethral damage to require urethra reconstruction. However, the first adolescent had recurrent pyelonephritis and renal scarring and the second had dysuria.To the best of our knowledge, Case 1 also represents the second reported case of pituitary prolactinoma in association with Müllerian agenesis. The first adolescent underwent a hernia repair and vaginoplasty, whereas the second had vaginal dilatations. CONCLUSION: Our cases highlight the need for careful assessment of the external genitalia and vagina patency in all girls with amenorrhea, even if they report 'normal' vaginal sexual activity. Early identification of anatomic disorders such as Müllerian agenesis, will allow provision of proper care according to the patient's needs and the existing abnormalities, and prevention of rare, unintentional but potentially physically and emotionally harmful, patterns of sexual intercourse.

Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome.

BACKGROUND: The genital malformations in Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) are frequently accompanied by associated malformations whose forms were recently classified as typical (isolated uterovaginal aplasia/hypoplasia) and atypical (the addition of malformations in the ovary or renal system). The aim of this study was to compare the surrogate IVF performance of women with typical and atypical forms including their chances of achieving pregnancy. METHODS: The follow-up data on a total of 102 cycles of surrogate IVF in 27 MRKH patients treated in our department between 2000 and 2010 were analysed. Twenty patients with the typical form who underwent 72 IVF cycles were compared with seven patients with the atypical form who underwent 30 IVF cycles. The various examined parameters of these intended mothers were age, hormonal profile during controlled ovarian hyperstimulation and laboratory outcome. RESULTS: The mean number of gonadotrophin ampoules needed for stimulation and treatment duration was significantly higher in the atypical form (3600 ± 1297IU for 13 ± 2.3 days versus 2975 ± 967 IU for 11.6 ± 1.6 days, P≤ 0.01). Serum estradiol and progesterone levels measured on the hCG administration day were similar. A significantly higher mean number of follicles 12.6 ± 6 versus 8.9 ± 5.4, P≤ 0.03, metaphase II (MII) oocytes 8.7 ± 5.1 versus 6.7 ± 4.8, P≤ 0.05, fertilizations 6 ± 3.6 versus 4.4 ± 3.3, P≤ 0.03 and cleaving embryos 5.7 ± 3.8 versus 4.1 ± 3.3, P≤ 0.01 were available in patients with the typical form compared with those with the atypical form, respectively. There was no significant difference in fertilization rate, cleavage rate or the mean number of transferred embryos. Embryo quality of the transferred ones and pregnancy rate per cycle were also similar between the two groups. CONCLUSIONS: Women with the typical form of MRKH needed fewer gonadotrophins and for a shorter duration for ovarian hyperstimulation. The mean number of follicles, oocytes, MII oocytes, fertilizations and cleaving embryos was higher among women with the typical form. Pregnancy rates were similar since the available number and quality of transferred embryos to the surrogate mother were not affected.

Disorders of sex development among Sudanese children: 5-year experience of a pediatric endocrinology clinic.

BACKGROUND: The birth of a child with disorders of sex development (DSDs) is considered a medical and psychosocial emergency. Management of these cases requires facilities and a multidisciplinary team. In developing countries, this is made difficult by the lack of facilities in addition to sociocultural and religious factors that can affect management. This is the first experience to be published from Sudan. OBJECTIVE: The aim of this study was to see the prevalence, etiological factors, management, and problems faced in handling these cases. METHODS: This is a retrospective descriptive study reviewing the records of all cases referred to a pediatric endocrinology clinic over a 5-year period. Cases were managed by a multidisciplinary team. RESULTS: One hundred fifty-six cases were seen, of which 122 were included in the study. A total of 79 (64.8%) were born at home, whereas 59 (52.2%) of the cases were not observed at birth by health-care providers. The average cost of investigating a case was $250-300. The investigations showed that 69 had XX DSD and 45 had XY DSD. The most common cause of XX DSD was congenital adrenal hyperplasia and that of XY DSD was androgen insensitivity syndrome. Twenty-three (19%) needed sex reassignment. There was a preference for the male sex. CONCLUSION: DSDs are not uncommon in Sudan. Because of lack of awareness and sociocultural reasons cases are referred late. Investigating these cases is expensive and has to be supported, and more multidisciplinary teams have to be trained to make services accessible and affordable.

[Mayer-Rokitansky-Küster-Hauser syndrome. A case report and a review of the medical literature on its treatment]. / Sindrome de Mayer-Rokitansky-Küster-Hauser. Reporte de un caso y revisión de la bibliografía relacionada con su tratamiento.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 women. It is characterized by the congenital absence of the upper third of the vagina, uterus and tubes; it is usually associated to renal malformations, and patients show normal phenotype and genotype. Age at diagnosis is between 15 and 18. A case is reported and a critical review of the information about the management alternatives of patients with MRKH syndrome available in medical literature is made. The paper is intended to help establish the best criteria and treatment options for a comprehensive therapeutic approach to MRKH patients.

Three-dimensional Printer Molds for Vaginal Agenesis: An Individualized Approach as Conservative Treatment.

OBJECTIVE: The aim of this study was to evaluate the use of vaginal molds, made with three-dimensional (3D) printing, for conservative treatment through vaginal dilation in patients with vaginal agenesis (VA). METHODS: A total of 16 patients with a diagnosis of VA (Mayer-Rokitansky-Küster-Hauser syndrome, total androgen insensitivity syndrome, and cervicovaginal agenesis) from the Federal University of São Paulo were selected. Device production was performed in a 3D printer, and the polymeric filament of the lactic polyacid (PLA) was used as raw material. A personalized treatment was proposed and developed for each patient. RESULTS: There were 14 patients who reached a final vaginal length of 6 cm or more. The initial total vaginal length (TVL) mean (SD) was 1.81(1.05) and the final TVL mean (SD) was 6.37 (0.94); the difference, analyzed as 95% confidence interval (95% CI) was 4.56 (5.27-3.84) and the effect size (95% CI) was 4.58 (2.88-6.28). CONCLUSION: The 3D printing molds for vaginal dilation were successful in 87.5% of the patients. They did not present any major adverse effects and offered an economical, accessible, and reproducible strategy for the treatment of VA.

OBJETIVO: O objetivo deste estudo foi avaliar o uso de moldes dilatadores vaginais, confeccionados com impressão tridimensional (3D), para tratamento conservador através da dilatação vaginal em pacientes com agenesia vaginal (AV). MéTODOS: Foram selecionadas 16 pacientes com diagnóstico de AV (síndrome de Mayer-Rokitansky-Küster-Hauser, síndrome de insensibilidade androgênica total e agenesia cervicovaginal), da Universidade Federal de São Paulo. A produção dos dispositivos foi realizada em uma impressora 3D e, como matéria-prima, foi utilizado o filamento polimérico do poliácido lático (PLA). Um tratamento personalizado foi proposto e desenvolvido para cada paciente. RESULTADOS: Quatorze pacientes atingiram um comprimento vaginal final (CVF) de 6 cm ou mais. A média inicial do CVF (DP) foi de 1,81 (1,05) e a média final do CVF (DP) 6,37 (0,94); a diferença (IC 95%) foi de 4,56 (5,27­3,84) e o tamanho do efeito (IC 95%) foi de 4,58 (2,88­6,28). CONCLUSãO: Os moldes de impressão 3D para dilatação vaginal obtiveram sucesso em 87,5% das pacientes. Como impacto secundário, não apresentaram efeitos adversos importantes e ofereceram uma estratégia econômica, acessível e reprodutível para o tratamento da AV.