Uterovaginal Anomalies: A Guide for the Generalist Obstetrician-Gynecologist.

Congenital gynecologic anomalies result from interruption of embryologic development of the female reproductive tract. The anomalies may be hymenal, vaginal, cervical, or uterine. The impact of these anomalies is variable: some are asymptomatic, incidental findings that require no intervention, others require simple surgical management, while some complex anomalies may require a multidisciplinary approach with extensive surgical expertise for optimal outcomes. Uterovaginal anomalies may occur in isolation or in association with other malformations, such as renal anomalies. The origin, presentation, evaluation and treatment of these conditions are reviewed here.

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide.

Evaluation and management of vaginoplasty complications.

PURPOSE OF REVIEW: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications. RECENT FINDINGS: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis. SUMMARY: Gynecologists who care for patients who have had a vaginoplasty need to understand the importance of long-term follow up and care, including evaluation and management of complications.

Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement.

BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources. The product of these conversations is summarized in 10 panels. The corresponding sections provide additional discussion on some of the panel items. KEY MESSAGES: Participants identified areas of agreement and gained a deeper understanding of the reasons behind disagreements on certain matters and identified the necessary steps to foster future consensus. We offer preliminary recommendations for guiding clinical management and resource allocation. By promoting a broader consensus, we aim to enhance the quality of care and well-being for individuals of all ages who have a DSD.

Integration of child life services in the delivery of multi-disciplinary differences in Sexual Development (DSD) and Congenital Adrenal Hyperplasia (CAH) care.

INTRODUCTION: Multiple studies have demonstrated the benefit of incorporating certified child life specialist (CCLS) services in various aspects of pediatric care. Although the significance of psychosocial support of patients with Disorders of Sexual Development (DSD) and Congenital Adrenal Hyperplasia (CAH) is increasingly recognized, the involvement of CCLS services into the DSD and CAH multidisciplinary care model has yet to be described. OBJECTIVE: To evaluate the feasibility, acceptability, and patient and family experience of routinely incorporating CCLS services into the multidisciplinary DSD and CAH care model. STUDY DESIGN: As part of a quality improvement initiative, CCLS services were routinely incorporated in the multidisciplinary DSD and CAH clinics at our institution. Encounters for patients seen in clinic between July 2018 through October 2019 were reviewed for demographic information, DSD diagnosis classification, CCLS documentation, and whether an exam under anesthesia (EUA) was required due to an incomplete clinical exam. CCLS documentation was reviewed for assessments, interventions, whether patients tolerated their physical exams, time of CCLS services, and additional CCLS support beyond the physical exam. All patients were limited to one physical exam per clinic visit. RESULTS: Out of the 45 encounters with CCLS involvement, 42 (93.3%) exams were well-tolerated. CCLS assessments considered patient development, communication considerations, temperament, medical stressors, coping preferences, and patient preferences for activities and distractions. Interventions included preparing patients for their physical exams, encouragement before and during exams, addressing patient stressors, distractions and coping mechanisms, and advocating for the patient. No patients required an EUA. DISCUSSION: The CCLS aimed to provide families with a sense of control during clinic visits and teach them to advocate for themselves. The CCLS helped prepare and distract patients for their clinic visit and addressed the sensitive nature of the physical exam by focusing on the emotional and development needs of patients. CCLS contributions to a positive patient experience are consistent with multiple studies demonstrating the benefit of CCLS services for pediatric care. This quality improvement initiative ultimately helped to create a positive experience for patients and families. CONCLUSION: This study demonstrates the feasibility, acceptability, and positive impact of CCLS services in the delivery of patient and family-centered care for patients with DSD and CAH as part of the multidisciplinary team model.

Experiences and attitudes of young adults with congenital bowel and bladder conditions.

INTRODUCTION: Young adults with complex congenital bowel and bladder anomalies are a vulnerable population at risk for poor health outcomes. Their experiences with the healthcare system and attitudes towards their health are understudied. OBJECTIVE: Our objective was to describe how young adults with congenital bladder and bowel conditions perceive their current healthcare in the domains of bladder and bowel management, reproductive health, and transition from pediatric to adult care. STUDY DESIGN: At a camp for children with chronic bowel and bladder conditions, we offered a 50-question survey to the 62 adult chaperones who themselves had chronic bowel and bladder conditions. Of the 51 chaperones who completed the survey (a response rate of 82%), 30 reported a congenital condition and were included. RESULTS: The cohort of 30 respondents had a median age of 23 years and almost half of the subjects (46%) reported not having transitioned into adult care. Most reported bowel (81%) and bladder (73%) management satisfaction despite high rates of stool accidents (85%), urinary accidents (46%), and recurrent urinary tract infections (70%). The majority of respondents (90%) expressed interest in having a reproductive health provider as part of their healthcare team. The median ages of the first conversation regarding transition to adult care and feeling confident in managing self-healthcare were 18 and 14 years, respectively. Most (85%) reported feeling confident in navigating the medical system. DISCUSSION: In this cohort of young adults who reported confidence with self-care and navigating the medical system, the proportion who had successfully transitioned into to adult care was low. These data highlight the need for improved transitional care and the importance of patient-provider and provider-provider communication throughout the transition process. CONCLUSION: These data highlight the need to understand the experience of each individual patient in order to provide care that aligns with their goals.

Patient-reported outcomes in adult females with bladder exstrophy: A study of long-term sexual, reproductive and urinary outcomes using social media.

INTRODUCTION: Limited data exist on patient-reported outcomes in adults with bladder exstrophy (BE). We partnered with the Association for the Bladder Exstrophy Community (A-BE-C) using social media to survey adult females with BE. The aim of the study was to assess long-term patient-reported sexual, reproductive and continence outcomes. MATERIALS AND METHODS: Between December 3, 2018 and January 18, 2019, A-BE-C promoted an anonymous survey of adult females with BE on social media. The survey included the Female Sexual Function Index (FSFI) and International Consultation on Incontinence Questionnaire - Short Form (ICIQ-SF) in addition to questions on demographics, reproductive and gynecological outcomes. RESULTS: A total of 130 women with a median age of 30 years (IQR 26, 41) completed the survey. The majority of women were born in the United States (N = 86, 66.2%). Women reported a median of 10 (IQR 5, 17) surgeries performed for their condition. The mean ICIQ-SF score was 6.2 ± 6.2 (moderate). Only 19.2% (N = 25) reported volitionally voiding and the majority reported intermittent catheterization through a catheterizeable channel or the urethra (Summary Table). The mean FSFI score was (20.1 ± 9.0), indicating risk for sexual dysfunction (FSFI < 26.55). Of the respondents, 28.5% (N = 37) were treated for uterine prolapse, 56.9% (N = 74) required surgery in order to use tampons or have penetrative intercourse, and over half (55.4%) reported some degree of dissatisfaction with the appearance of their external genitalia. Forty-seven women (36.2%) reported pregnancies, and of these 32 (68.1%) reported complications with pregnancy. Outcomes of 100 pregnancies included miscarriage/abortion (41.0%), preterm vaginal (3.0%), preterm cesarean section (19.0%), term vaginal (2.0%), and term cesarean section (35.0%). Seven (15.2%) women identified having children with a medical diagnosis, none of which included BE. Infertility was reported in 17.3% (22/127) women. Women identified sexual function, fertility, and body image as areas that need future research. CONCLUSION: This is the largest study of patient-reported outcomes in females with BE achieved through partnership with an advocacy group and social media. We found that continence and sexual function were both impaired in adult women with BE. Respondents reported poor obstetric and gynecological outcomes including infertility, uterine prolapse, vaginal stenosis, and need for multiple surgeries. BE surgeons, through multi-institutional collaboration, should continue to reassess surgical techniques at initial repair to better address these functional issues. These results should be a part of counseling parents of newborns with BE.

Congenital virilization of female infants recognized after pregnancies with retained levonorgestrel intrauterine devices.

The Mirena intrauterine device (IUD) is a hormone-secreting contraceptive device. Pregnancy with the Mirena is rare and effects to the fetus are unknown. Here we present four females with genital virilization after pregnancy with persistent Mirena IUD. All patients had a 46, XX karyotype and normal hormone evaluation. All underwent exam under anesthesia, demonstrating posterior labial fusion and short urogenital sinus with normal bladder, urethra, vagina, and cervix. Three of four patients underwent flap vaginoplasty without complications and good cosmetic outcomes. This series suggests that persistent levonorgestrel-secreting IUD during pregnancy is associated with genital virilization in female fetuses.

Vaginal Dilator Therapy: A Guide for Providers for Assessing Readiness and Supporting Patients Through the Process Successfully.

Vaginal dilator therapy is used to increase vaginal length for vaginal agenesis, to increase vaginal width for vaginal narrowing, and to prevent or treat stenosis after vaginal surgery. Although it is an effective therapy, many reproductive health providers have had little training on how to guide patients through this therapy. The purpose of this review is to educate providers on how to assess patient readiness and how to support patients through the process of vaginal dilation.

Providers' Experiences with Vaginal Dilator Training for Patients with Vaginal Agenesis.

STUDY OBJECTIVE: To examine providers' experiences with vaginal dilator training for patients with vaginal agenesis. DESIGN AND SETTING: Anonymous electronic survey. PARTICIPANTS: Members of the North American Society for Pediatric and Adolescent Gynecology. INTERVENTIONS AND MAIN OUTCOME MEASURES: How providers learn about vaginal dilator training, common techniques, and methods used for patient training, assessment of patient readiness, common patient complaints, issues leading to early discontinuation. RESULTS: There were a total of 55 completed survey responses of which 31 respondents (56%) had been in practice for more than 10 years. Forty-nine were gynecologists (89%), 20 had completed a fellowship in pediatric and adolescent gynecology (36%), and 6 were reproductive endocrinologists (11%). Thirty-one respondents had first learned about vaginal dilator training through lectures (56%) whereas only 9 through mentorship and fellowship (16%). According to respondents, the most common issue leading to early discontinuation was lack of patient motivation and readiness (n = 42; 76%). The most common complication was pain or discomfort (n = 45; 82%). More than half of respondents determined dilator therapy was successful when patients reported comfortable sexual intercourse (n = 30; 55%) and 65% (n = 35) did not delineate any restrictions to initiation of sexual intercourse. Most respondents (87%) requested further vaginal dilator training at either a clinical meeting (n = 26; 47%) or with a training video (n = 22; 40%). CONCLUSION: Our study in an experienced cohort of pediatric gynecology providers highlights the need for further research and training on vaginal dilation education.

Outcomes of Therapy for Vulvar Manifestation of Inflammatory Bowel Disease in Adolescents.

BACKGROUND: Vulvar manifestations of inflammatory bowel disease (IBD) are variable in presentation and challenging to treat. We describe vulvar manifestations and treatment response in female adolescents with IBD. CASES: We identified 6 patients with vulvar manifestations of IBD and documented treatments using retrospective chart review. Vulvar symptoms occurred without gastrointestinal (GI) symptoms in 1 patient. For the remaining 5 patients, 2 had GI symptoms before the onset of vulvar symptoms (mean time difference, 4.5 years); 3 patients had vulvar symptoms precede the onset of GI symptoms (mean time difference, 3.3 years). Vulvar IBD manifestations included pain, 100% (n = 6); enlargement, "fullness" or "edema" of the labia minora or majora, 66% (n = 4); ulcers, 50% (n = 3); and abscess, 50% (n = 3). Gynecologic procedures included biopsies, incision and drainages, and partial vulvectomies. All patients were treated with multiple systemic therapies. None of the patients responded to surgical or medical treatment alone; all had recalcitrant vulvar symptoms. SUMMARY AND CONCLUSION: Vulvar manifestations of IBD might precede GI symptoms in adolescents with IBD. Treatment is challenging and in this series, systemic therapies were the most successful in achieving symptomatic improvement.

Bits and Pieces: A Crowd-Sourced Series of 54 Cases of Fractured Hormonal Implants.

STUDY OBJECTIVE: The fracture of hormonal implants, including Implanon, Nexplanon (both from Merck & Co, Inc), and histrelin acetate is rare. Our aim was to describe patient demographic characteristics, mechanisms, and consequences of fractured implants by surveying physicians' experience via listservs and social media. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: We developed a Research Electronic Data Capture survey for physicians regarding their experience with implant fracture, including patient characteristics, mechanism of fracture, changes in menstrual bleeding patterns, time from insertion to fracture, and time from fracture to seeking care. We distributed the survey to providers in listservs for the North American Society for Pediatric and Adolescent Gynecology, the Family Planning Fellowship, the Ryan Program, and the Facebook Physician Moms Group and Facebook OB-GYN Mom Group. We performed descriptive analyses. RESULTS: We received 42 survey responses, representing 54 discrete implant fractures of which 70% (n=14) were Nexplanon, 26% (n=38) were Implanon, and 4% (n=2) were histrelin acetate. Mechanisms of implant fracture included patient manipulation (23%, n=12), unintentional trauma (11%, n=6), interpersonal violence (8%, n=4), lifting/carrying (6%, n=3), fracture with removal (6%, n=3), and unknown (47%, n=25). Bleeding pattern was not altered in 78% (n=42) of cases. Time interval between placement and fracture was less than 2 years for 63% (n=34) of cases. Thirty-nine percent (n=21) of patients presented for care more than 1 month from the time of fracture. CONCLUSION: Patients should be counseled about potential for hormonal implant fracture, advised against excessive manipulation of implants, and counseled to present for care immediately upon noticing an implant fracture. Surveying physicians through listervs and social media is an effective strategy to increase the reporting of rare complications and events.

Use of 3D reconstruction cloacagrams and 3D printing in cloacal malformations.

INTRODUCTION: Cloacal anomalies are complex to manage, and the anatomy affects prognosis and management. Assessment historically includes examination under anesthesia, and genitography is often performed, but these do not consistently capture three-dimensional (3D) detail or spatial relationships of the anatomic structures. Three-dimensional reconstruction cloacagrams can provide a high level of detail including channel measurements and the level of the cloaca (<3 cm vs. >3 cm), which typically determines the approach for surgical reconstruction and can impact long-term prognosis. Yet this imaging modality has not yet been directly compared with intra-operative or endoscopic findings. OBJECTIVES: Our objective was to compare 3D reconstruction cloacagrams with endoscopic and intraoperative findings, as well as to describe the use of 3D printing to create models for surgical planning and education. STUDY DESIGN: An IRB-approved retrospective review of all cloaca patients seen by our multi-disciplinary program from 2014 to 2016 was performed. All patients underwent examination under anesthesia, endoscopy, 3D reconstruction cloacagram, and subsequent reconstructive surgery at a later date. Patient characteristics, intraoperative details, and measurements from endoscopy and cloacagram were reviewed and compared. One of the 3D cloacagrams was reformatted for 3D printing to create a model for surgical planning. RESULTS: Four patients were included for review, with the Figure illustrating 3D cloacagram results. Measurements of common channel length and urethral length were similar between modalities, particularly with confirming the level of cloaca. No patient experienced any complications or adverse effects from cloacagram or endoscopy. A model was successfully created from cloacagram images with the use of 3D printing technology. DISCUSSION: Accurate preoperative assessment for cloacal anomalies is important for counseling and surgical planning. Three-dimensional cloacagrams have been shown to yield a high level of anatomic detail. Here, cloacagram measurements are shown to correlate well with endoscopic and intraoperative findings with regards to level of cloaca and Müllerian development. Measurement discrepancies may be due to technical variation indicating a need for further evaluation. The translation of the cloacagram images into a 3D printed model demonstrates potential applications of these models for pre-operative planning and education of both families and trainees. CONCLUSIONS: In our series, 3D reconstruction cloacagrams yielded accurate measurements of urethral length and level of cloaca common channel and urethral length, similar to those found on endoscopy. Three-dimensional models can be printed from using cloacagram images, and may be useful for surgical planning and education.

Disorders of Sexual Development in Adult Women.

Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care. As women with these conditions transition to adult care, the gynecologist needs to assess the patient's understanding and educate her regarding her diagnosis and ongoing medical care. All of these conditions may affect self-perception, mental health, fertility, sexual function, and bone and cardiovascular health. Women with congenital adrenal hyperplasia need lifelong endocrine management and require genetic counseling before pregnancy. Women with androgen insensitivity syndrome require counseling regarding gonadectomy and hormone replacement therapy and may require vaginal elongation for intercourse. Most women with Turner syndrome experience premature ovarian insufficiency and require long-term estrogen replacement. Women with Turner syndrome often have congenital anomalies and autoimmune disorders, which require regular monitoring and care during adulthood. The purpose of this review is to provide the obstetrician-gynecologist who cares for adult women with the most common disorders (differences) of sexual development conditions an outline of the current recommendations for screening and ongoing health care with particular emphasis on the underlying genetics, management of subfertility, infertility and sexual concerns, approach to hypogonadism, and understanding of associated comorbidities.

Management of Large Ovarian Neoplasms in Pediatric and Adolescent Females.

The overwhelming majority of ovarian cysts in pediatric and adolescent girls are physiologic; however, large simple and complex ovarian lesions often require surgical intervention due to the increased risk of neoplasia. In this review article, we discuss the preoperative evaluation and intraoperative management of large ovarian neoplasms. We review the current literature regarding long term ovarian function and fertility, rates of recurrence and residual disease, and novel surgical approaches. Managing large ovarian neoplasms in the pediatric and adolescent population requires careful preoperative and intraoperative care to optimally resect neoplasia while maximizing fertility and minimizing pain.

Knowledge and Acceptability of Long-Acting Reversible Contraception Among Adolescent Women Receiving School-Based Primary Care Services.

BACKGROUND: A key strategy to reduce unintended adolescent pregnancies is to expand access to long-acting reversible contraceptive (LARC) methods, including intrauterine devices and subdermal contraceptive implants. LARC services can be provided to adolescents in school-based health and other primary care settings, yet limited knowledge and negative attitudes about LARC methods may influence adolescents' utilization of these methods. This study aimed to evaluate correlates of knowledge and acceptability of LARC methods among adolescent women at a school-based health center (SBHC). METHODS: In this cross-sectional study, female patients receiving care at 2 SBHCs in Seattle, Washington completed an electronic survey about sexual and reproductive health. Primary outcomes were (1) LARC knowledge as measured by percentage correct of 10 true-false questions and (2) LARC acceptability as measured by participants reporting either liking the idea of having an intrauterine device (IUD)/subdermal implant or currently using one. RESULTS: A total of 102 students diverse in race/ethnicity and socioeconomic backgrounds completed the survey (mean age 16.2 years, range 14.4-19.1 years). Approximately half reported a lifetime history of vaginal sex. Greater LARC knowledge was associated with white race (regression coefficient [coef] = 26.8; 95% CI 13.3-40.4; P < .001), history of vaginal intercourse (coef = 29.9; 95% CI 17.1-42.7; P < .001), and current/prior LARC use (coef = 22.8; 95% CI 6.5-40.0; P = .007). Older age was associated with lower IUD acceptability (odds ratio = 0.53, 95% CI 0.30-0.94; P = .029) while history of intercourse was associated with greater implant acceptability (odds ratio 5.66, 95% CI 1.46-22.0; P = .012). DISCUSSION: Adolescent women in this SBHC setting had variable knowledge and acceptability of LARC. A history of vaginal intercourse was the strongest predictor of LARC acceptability. Our findings suggest a need for LARC counseling and education strategies, particularly for young women from diverse cultural backgrounds and those with less sexual experience.

Laparoscopic simulation for surgical residents in Ethiopia: course development and results.

BACKGROUND: We aimed to develop and implement a laparoscopic skills curriculum in an Ethiopian surgical residency program. We hypothesized that residents would improve with practice. METHODS: We developed a laparoscopic curriculum by adapting existing training models. Six courses were conducted during 2012 and 2013 in a teaching hospital in Ethiopia. Eighty-eight surgical residents participated. Main outcome measures were laboratory task completion times and student survey responses. RESULTS: Students showed improvement in time needed to complete skills tasks with practice. Mean times improved for all 5 tasks (P ≤ .01). Students uniformly reported that the course was valuable. The curriculum is now taught and sustained by local faculty. CONCLUSIONS: The development and implementation of a collaborative and sustainable laparoscopic curriculum is possible in a low-resource environment. Such a curriculum can result in improved laparoscopic expertise, surgical trainee satisfaction, and may increase utilization of laparoscopy.

Transition to Adult Care in Persons With Disorders of Sexual Development: The Role of the Gynecologist.

Disorders of sexual development (DSD) are a spectrum of conditions diagnosed in infancy resulting from atypical development of the external genitalia, in adolescence resulting from atypical pubertal development, or in adulthood as a result of infertility. Obstetricians may be the first health care providers to identify a disorder of sexual development in the fetus or newborn and should be part of the interdisciplinary team assembled to best care for these patients. Gynecologists must be familiar with the diagnosis and management of these conditions in late adolescence and adulthood. The creation of DSD "centers of excellence" may provide optimal care for individuals with these conditions but many will live too far from such centers and need to be followed by local gynecologists. The purpose of this commentary is to emphasize important medical and psychological issues so gynecologists can provide optimal care for their patients with DSD conditions.