Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia

Objective: To retrospectively evaluate the follow-up data in patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised male. Methods: A national database was created. The data of patients were asked to be recorded in the data form. Results: The median (range) age of diagnosis was three (0.1-18.3) years in 44 patients. Twenty nine cases were diagnosed after the age of two years. Most (95.4%) cases were stage 4-5 virilized. Hysterectomy and bilateral salpingoopherectomy, at a median age of 7.25 (2.4-25.3) years, was performed in 35 cases. Testicular prostheses were placed in 11 (25%) cases at a median age of 11.2 (2.8-17) years. The median final height was 149.2 (132.8-172) cms in 38 patients, including simple virilizing (n=18), salt-wasting (n=6), and 11-beta hydroxylase (n=12). Of the 16 patients above the age of eighteen, university education was completed in 25%. Conclusion: It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were performed in a very wide age rage.

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.

Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.

A diagnosis of congenital adrenal hyperplasia (CAH) in a '46, XX' newborn with ambiguous genitalia is like a 'knee jerk reaction' of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause of '46, XX' disorder of sex development, mimics virilising CAH in many aspects; thus, the disease is often overlooked. Diagnosis of AD in women is much easier around puberty due to the presence of primary amenorrhoea, undeveloped breasts, androgen excess and tall stature with eunuchoid proportions. Diagnosing AD with confidence immediately after birth or during early childhood is a challenging task without genetic analysis. In resource-restricted settings, AD remains a diagnosis of exclusion particularly in this age group and history of maternal virilisation, non-progressive genital ambiguity, elevated gonadotrophins (follicle-stimulating hormone >>luteinising hormone), mildly delayed bone age with/without enlarged polycystic ovaries serve as important clues to the underlying AD.

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.

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.

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.

[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.

Long-term results of vaginal construction with the use of Frank dilation and a peritoneal graft (Davydov procedure) in patients with Mayer-Rokitansky-Küster syndrome.

OBJECTIVE: To describe long-term outcomes after nonsurgical and surgical treatment of vaginal agenesis in a cohort of girls and women with Mayer-Rokitansky-Küster (MRK) syndrome. DESIGN: Retrospective cohort study using a standardized case record form. SETTING: University hospital. PATIENT(S): All girls and women with vaginal agenesis due to MRK syndrome, presenting during a 40-year period (1962-2012). INTERVENTION(S): Frank dilation and surgical treatment (with the use of a peritoneal graft, i.e., the Davydov method) for vaginal agenesis. MAIN OUTCOME MEASURE(S): Functional vaginal depth and complications. RESULT(S): Two hundred fifty-four women with MRK visited the department. Urinary tract anomalies were found in 72 patients (31%), and other congenital anomalies in 59 (32%) of the patients with available data. One hundred sixty women were treated for vaginal agenesis. The mean follow-up time was 90 months (range 0-560 months). Sixty-eight patients had surgical treatment for vaginal agenesis with the use of a peritoneal graft (Davydov method) and reached a functional depth of the vagina of 7.8 cm (range 1-13 cm) Surgical therapy preceded by nonsurgical Frank dilation and/or attempted sexual intercourse did not result in more functional depth of the neovagina. The formation of granulation tissue (23%) and the tendency to obliterate (12%) were the major problems when using a peritoneal graft. CONCLUSION(S): Long-term results of both Frank dilation and Davydov neovagina procedure in experienced hands were good. The use of a peritoneal graft may be regarded as a good alternative to other widely used neovagina techniques using a graft, such as split-thickness skin graft or sigmoid neovagina.

An update on surgical and non-surgical treatments for vaginal hypoplasia.

BACKGROUND: In women with vaginal hypoplasia, such as in Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and in Complete Androgen Insensitivity Syndrome (CAIS), surgical vaginoplasty and non-surgical self-dilation treatments are available to lengthen the vagina and facilitate sexual intercourse, but the best treatment remains controversial. Vaginal dilation has been recommended as a first-line treatment, because of its less invasive character and high success rate. However, the exploration of factors associated with compliance and long-term outcome is incomplete, including whether psychological counselling needs to be embedded in treatment to maximize efficacy. It is not known if failed vaginal dilation therapy jeopardizes further surgical success outcomes, especially because in a number of these procedures ongoing vaginal dilation is required. In addition, if surgery is needed, there is a lack of evidence to inform physicians regarding the optimum surgical technique to use. Also, it is unclear whether maintenance dilation therapy in case of sexual inactivity is crucial to ensure functional success. METHODS: In view of this ongoing debate, we performed a search of all published literature (English language only) restricted to the management of vaginal hypoplasia in patients with MRKH or CAIS from 1898 to March 2013 using Pubmed, Cochrane Library and Web of Science. Of the 6700 articles initially identified, a total of 190 studies are analysed. More specifically, by establishing the risk/efficacy profile (vaginal capacity, complications and long-term durability in terms of sexual function) of the different surgical and non-surgical reconstruction techniques, we evaluate if vaginal dilation proposed as the first-line technique is justified based on the evidence. RESULTS: When anatomical success was defined as a length of ≥7 cm and functional success as coitus, all vaginoplasty techniques yielded significantly higher success rates (>90 versus 75% after vaginal dilation), irrespective of underlying diagnosis or start vaginal length. When functional success was defined as 'satisfaction with sex', including non-genital sex, differences disappeared. Failed dilation therapy does not preclude anatomical (nor functional) success if vaginoplasty afterwards is necessary. Traction vaginoplasty seems to have the highest anatomical (99%) and functional success rates (96%), whereas both split- and full-thickness skin graft procedures and intestinal procedures have the lowest successful outcomes (83-95%). Overall, complication rates were significantly lower within the vaginal dilation groups when compared with the different vaginoplasty techniques. Although no randomized control data exist regarding maintenance dilation, the available evidence suggests that continued dilation is needed to maintain patency in periods of coital inactivity. Despite the expectancy that the probability of further positive outcomes is maximized with psychological counselling, this could not be confirmed. CONCLUSIONS: As the medical literature lacks high-quality comparative outcome studies and prospective, longitudinal studies are scarce, no evidence-based treatment guidelines can be provided. However, because of the physically low complication rate and an overall success chance of 75%, vaginal dilation as first choice treatment seems to be justified. Overall, the laparoscopic Vecchietti procedure, becoming more and more available in specialized centres, is considered an appropriate surgical option in patients who are poorly compliant and failed dilation therapy, or for those who do not want to start with vaginal dilation therapy. Future approaches need to raise a wider range of psychosexually oriented questions, elucidate the relationship between vaginal depth and satisfactory outcomes and gain additional experience concerning the format of acceptable and efficient psychological care.

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.

Mayer-Rokitansky-Küster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators.

OBJECTIVE: To understand the efficacy of vaginal dilators in the management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: Retrospective sequential study. SETTING: Hospital. PATIENT(S): 245 women. INTERVENTION(S): Vaginal dilators. MAIN OUTCOME MEASURE(S): Functional vaginal length and sexual satisfaction. RESULT(S): Of the patients who completed the program, 232 (94.9%) achieved a successful vaginal length (defined as greater than 6 cm in length and maximum width throughout the vagina and especially at the apex) and sexual function. When the program was completed by all patients, 100% of patients were successful. CONCLUSION(S): Vaginal dilator therapy is the treatment of first choice for creation of the vagina in MRKH syndrome, and the success rates suggest that surgery is rarely, if ever, required.

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.

An observational study of women with müllerian agenesis and their need for vaginal dilator therapy.

OBJECTIVE: To assess vaginal development, sexual activity, and the efficacy of vaginal dilator therapy in women with vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome). DESIGN: Retrospective case review. SETTING: Tertiary referral university teaching hospital clinic for disorders of sexual development and differentiation (DSDD). PATIENT(S): Eighty cases of Rokitansky syndrome. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Sexual activity and vaginal dimensions. RESULT(S): The retrospective case review examined vaginal dimensions and sexual activity at presentation with further evaluation at completion of vaginal dilator therapy. Eleven of 80 patients had undergone surgery in the past; six of these 80 women had received dilator training elsewhere, and four were sexually active. Sixty-three of 80 patients had not undergone any previous treatment. Seventeen were having satisfactory sexual intercourse, 16 were having unsatisfactory sexual intercourse, and 26 had never been sexually active; for four women, no information had been recorded. A total of 32 patients underwent vaginal dilator treatment, and 25 completed the therapy. Their vaginal length increased from 3.2 cm (range: 0 to 7 cm) to 6.1 cm (range: 3 to 9 cm). CONCLUSION(S): Diagnosis and management of müllerian agenesis may be achieved without the need for surgery in the majority of cases. Dilator treatment for vaginal agenesis should be offered as first-line treatment, coordinated by a specialist nurse with input from a psychologist.

Laparoscopic sacrocolpopexy to treat prolapse of the neovagina created by vaginal dilation in Rokitansky syndrome.

BACKGROUND: Vaginal dilation is the first choice of treatment for women with a short vagina due to Rokitansky syndrome. Although the neovagina lacks pelvic support, prolapse of the neovagina is a surprisingly rare complication of treatment. Laparoscopic sacrocolpopexy is recommended in the treatment of posthysterectomy vault prolapse in younger women but has not been used to treat neovaginal prolapse. CASE: A 23-year-old woman with Rokitansky syndrome presented with a symptomatic prolapse of the neovagina. This was successfully treated with a laparoscopic sacrocolpopexy. SUMMARY AND CONCLUSIONS: Laparosopic sacrocolpopexy appears to be an effective treatment in the unusual situation of vaginal prolapse after dilation.