Endometriosis in a pre-pubertal patient with 46,XY difference in sex development: a case report.

INTRODUCTION: Endometriosis typically presents in postmenarchal patients with cyclic and acyclic pelvic pain. However, there are reports of endometriosis in premenarchal patients. CASE: We report a ten-year-old individual with 46,XY DSD who was found to have endometriosis at the time of laparoscopic gonadectomy for gonadoblastoma. CONCLUSIONS: Although rare, endometriosis can occur in 46,XY individuals prior to puberty, highlighting the complex origin of the disease.

Body Mass Index and Levonorgestrel Device Expulsion in Adolescents and Young Adults.

STUDY OBJECTIVE: To evaluate the relationship between body mass and levonorgestrel intrauterine device (LNG-IUD) expulsion in adolescents and young adults (AYA). DESIGN, SETTING, PARTICIPANTS & INTERVENTIONS: A retrospective chart review was conducted of nulliparous females aged 10-24 years who had a 52-milligram LNG-IUD placed between November 2017 and May 2021 by pediatric and adolescent gynecology providers at a tertiary children's hospital, including those who underwent metabolic and bariatric surgery (MBS). Primary analysis focused on 10-19 year olds as they had comparable anthropometrics (namely BMI percentile [BMIP] as defined by the Centers for Disease Control). Descriptive statistics included means, standard deviations (SD), and ranges for continuous variables counts and percentages for categorical variables. Chi-square or Fisher's exact tests were used to assess associations. Logistic regressions were fit to test the associations between BMIP, MBS, and the odds of expulsion. MAIN OUTCOME MEASURES & RESULTS: A total of 588 patients were included in the primary analysis (10-19 years). Mean age was 15.8 years (±2.0). Using BMIP, 15.5% (n = 91) of the sample was overweight and 22.3% (n = 131) were obese. Within 12 months, 33 patients (5.6%) experienced expulsion. Every one-unit increase in BMIP was associated with a 3% increase in the odds of expulsion (P = .008), and each increase in BMIP category (eg, overweight vs average/underweight) was significantly associated with increased odds of expulsion (OR = 2.77-4.28). Patients who had LNG-IUD placement during MBS (n = 43) had higher odds of expulsion (OR = 3.23; P = .024) than other patients. CONCLUSION: AYA with higher BMIP and/or who undergo MBS are at increased risk of LNG-IUD expulsion within one year of placement.

Obstructed Hemivagina and Renal Anomalies in Patients with and without Anorectal Malformations.

STUDY OBJECTIVE: To compare the anatomic variation between patients with a diagnosis of an obstructed hemivagina with an anorectal malformation (ARM) and those without an ARM. METHODS: This was a retrospective chart review conducted at a single tertiary children's hospital. Patients with an obstructed hemivagina seen from 2004 to 2019 were included. RESULTS: We identified a total of 9 patients diagnosed with an obstructed hemivagina: 4 patients with a history of ARM and 5 patients without an ARM. Patients presented with obstructive symptoms between the ages of 11 and 20. Two-thirds of patients had a left-sided obstruction. All patients without an ARM had ipsilateral congenital anomalies of the kidney and urinary tract. Half the patients with a history of ARM had an ipsilateral renal anomaly, and the other half had a contralateral renal anomaly. CONCLUSION: Obstructed hemivagina occurs in patients with a history of ARM. However, unlike patients with isolated obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), patients with an ARM and an obstructed hemivagina can present with associated renal anomalies on either the ipsilateral or contralateral side. In our small case series, patients with a history of ARM had high septa and required more complex surgical management due to the inability to access the septum vaginally. Knowledge of renal anatomy and ureteral path is important because a hysterectomy may be needed to relieve the obstruction in patients with ARMs. A larger case series is needed to better characterize the spectrum of complex anomalies in patients with ARMs.

Fertility concerns and outcomes in females with anorectal malformations.

PURPOSE: To assess fertility concerns and to describe pregnancy outcomes in patients with anorectal malformations (ARM). METHODS: This is an IRB approved, cross-sectional study of patients in the Adult Colorectal Research Registry who completed reproductive health surveys between November 2021 and August 2022. Patients assigned female at birth with age 18 or older and ARM were included. RESULTS: Sixty-four patients with ARM, age 18 or older, were included. Fertility concerns were reported in 26 (40.6%) patients, 11 of which had seen a fertility specialist, including four who had not yet tried to conceive. Fertility concerns were highest amongst cloaca patients who had not yet tried to conceive (37.5%). 26 (40.6%) patients had tried to conceive, of which 16 (25%) reported fertility problems, most frequently uterine abnormalities and damaged or blocked fallopian tubes. 22 (34.4%) participants were able to conceive and 18 (28.1%) had at least one live birth. Patients with ARM who had concerns of fertility, had better FertiQoL when compared to published reference scores for patients experiencing fertility issues. CONCLUSION: Providers should be aware of fertility concerns in patients with ARM. Proactive counseling with referrals to a fertility specialist should be considered in patients who desire future fertility.

Caregiver goals and satisfaction for menstrual suppression in adolescent females with developmental disabilities: A prospective cohort study.

BACKGROUND: Adolescents with developmental disabilities and their caregivers often seek menstrual management. Caregivers frequently serve as medical decision-makers, and little is known about caregiver goals for menstrual management and satisfaction over time. OBJECTIVE: Assess caregiver reasons for initiating menstrual management in adolescents with disabilities and satisfaction over 12 months. METHODS: Prospective cohort study of caregivers of adolescents with developmental disabilities seeking menstrual management at a pediatric and adolescent gynecology clinic. Data derive from caregiver surveys and adolescents' electronic medical records. RESULTS: Ninety-two caregiver-adolescent pairs enrolled. The mean age of adolescents was 14.4 (±2.6). The most common method started was levonorgestrel intrauterine device (LNG-IUD; 52, 56.5%), followed by oral norethindrone acetate (21, 22.8%). Caregivers cited hygiene concerns (84.8%), behavioral problems (52.2%), and heavy/excessive bleeding (48.9%) as reasons for initiating menstrual suppression. Caregivers who identified hygiene or heavy/excessive bleeding as the most important reason for management were more likely to select LNG-IUD (p = 0.009). Caregivers who cited behavioral/mood or seizure concerns as the most important reason were more likely to choose other methods (p < 0.05). At 12 months, caregiver satisfaction with all methods was high (66.2-86.9 on a 100-point scale). For every additional day of bleeding, satisfaction decreased by 3.7 points (95% CI: 2.3-5.0). CONCLUSIONS: Caregiver satisfaction with all methods is high; however, it negatively correlates with days of bleeding. Caregiver reasons for menstrual suppression influence the method chosen. Management may reflect both patient and caregiver priorities; research is needed to better understand shared decision-making models that promote reproductive autonomy in adolescents with a developmental disability.

Management of Hematometra and Hematocolpos in Obstructive Mullerian Anomalies by Image-Guided Drainage with Interventional Radiology: A Multi-Institutional Case Series.

STUDY OBJECTIVE: To describe cases of image-guided drainage of symptomatic hematometrocolpos from obstructive Müllerian anomalies as a temporizing measure to manage acute pain symptoms and delay definitive management of the obstructive Müllerian anomalies that require complex reconstruction METHODS: Institutional Review Board exemption from all included institutions was obtained. A retrospective case series from 3 academic children's hospitals of 8 females under the age of 21 with symptomatic hematometrocolpos due to obstructive Müllerian anomalies drained by image-guided percutaneous transabdominal vaginal or uterine drainage with interventional radiology was reviewed and described. RESULTS: Eight pubertal patients with obstructive Müllerian anomalies (6 patients with distal vaginal agenesis, 1 patient with an obstructed uterine horn, and 1 patient with a high obstructed hemi-vagina) and symptomatic hematometrocolpos are reported. All patients with distal vaginal agenesis had greater than 3 cm lower vaginal agenesis, which would usually require complex vaginoplasty and use of postoperative stents. Given their immaturity and inability to use stents or dilators postoperatively or medical complexity, they subsequently underwent ultrasound-guided drainage of hematometrocolpos with interventional radiology to relieve pain symptoms, followed by menstrual suppression. The patients with obstructed uterine horns had complex medical and surgical histories requiring perioperative planning; they also underwent ultrasound-guided drainage of hematometra as a temporizing measure to manage acute symptoms. CONCLUSION: Patients presenting with symptomatic hematometrocolpos due to obstructive Müllerian anomalies might not be psychologically mature enough to undergo definitive complex reconstruction, which requires vaginal stent or dilator use postoperatively to prevent stenosis and other complications. Image-guided percutaneous drainage of symptomatic hematometrocolpos serves as a temporizing measure by offering pain relief until patients are ready to undergo surgical management and/or to allow time for complex surgical planning.

Hymenal Anomalies Interfering with Dilation in Women with Mullerian Agenesis: A Case Series.

BACKGROUND: Women with Mullerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), have aplasia or hypoplasia of the uterus and vagina. Regular use of dilators can successfully create a functional vagina in up to 95% of cases. We present 3 women with Mullerian agenesis who failed dilation therapy due to pain and were subsequently found to have hymenal anomalies. CASES: Patients presented at age 16 or 17 to initiate dilation. Initial attempts were discontinued due to pain. On examination, a septate hymen was identified in 2 patients and a microperforate hymen in 1 patient. All patients underwent hymenectomy and thereafter continued dilation with less discomfort. SUMMARY AND CONCLUSION: These cases illustrate the importance of recognizing and treating hymenal anomalies in women with Mullerian agenesis to prevent pain, leading to unsuccessful dilation.

Reproductive and Family Building Considerations for Female Patients with Anorectal And Urogenital Malformations.

BACKGROUND: Little is known about fertility and pregnancy outcomes in patients with anorectal malformations (ARM), particularly those with long common channel cloaca and cloacal exstrophy who may have impaired fertility. The purpose of this study is to describe pregnancy and offspring data from a cohort of patients with ARM. METHODS: A retrospective review of female patients with ARM from our database, which includes patients operated on since 1980, was performed as well as a review of the literature. Demographic, operative, and self-reported fertility, obstetric, and offspring data were collected. RESULTS: There were 37 females identified in our database who reported any pregnancy or having children. There were 59 pregnancies, 48 (81.3%) of which resulted in live birth. The most common mode of delivery was cesarean delivery. There were five patients with long channel cloaca (>3 cm) and one with cloacal exstrophy that reported 11 total pregnancies, eight of which resulted in live birth. Four cloaca patients in which the native vagina was pulled through were able to conceive spontaneously. Three patients with cloacal anomalies required in vitro fertilization to conceive; one was unsuccessful. No patients who underwent bowel partial vaginal replacement became pregnant. Women with ARM face many unique challenges in assisted reproduction, pregnancy, and delivery owing to their anatomy and associated anomalies. CONCLUSIONS: Women with recto-perineal, recto-vestibular, and cloacas in which the native vagina was pulled through are capable of spontaneous pregnancy. Assisted reproduction, however, may be needed those with more complex anomalies and surgical repairs. LEVEL OF EVIDENCE: IV.

Pelvic exams and cervical cancer screening in patients with anorectal malformations.

PURPOSE: Congenital or acquired anatomic differences of the genital tract in patients with anorectal malformations (ARM) may make pelvic exams more challenging. The purpose of this study was to describe office-based pelvic exams and cervical cancer screening among female patients with a history of ARM. METHODS: This was an IRB approved, cross-sectional study of female patients with ARM who completed our Reproductive Health Surveys from November 2021 to March 2022. RESULTS: Fifty-four patients with ARM were included in the study. Ages ranged from 22 to 80 years (mean age 34.5 years). Thirty-four patients had a cloaca, 16 had an ARM other than cloaca, and four patients had a complex malformation. Most patients (79.6%) reported having had a pelvic exam in the office. On a scale of 0-100, the mean pain score with pelvic exam was 42. Pain scores were higher for patients with complex malformations and neo-vagina. Forty-three participants (79.6%) had cervical cancer screening. Fifteen participants (28%) had a didelphys uterus but only two patients specified that both cervices were screened for cervical cancer. CONCLUSION: The majority of female patients with ARM had cervical cancer screening in clinic, those with complex malformations reported greater discomfort. Providers should be aware of barriers to performing pelvic exams in patients with ARM as well as the need to screen both cervices in didelphys uterus.

Vulvar Aphthous Ulcers in an Adolescent After Coronavirus Disease 2019 (COVID-19) Vaccination.

BACKGROUND: Nonsexually acquired genital ulcers have been described among girls who are prepubertal after various viral illnesses due to mucosal inflammation from an immunologic response. Until recently, nonsexually acquired genital ulcers have only been associated with viral infections. CASE: We present a case of an adolescent girl developing nonsexually acquired genital ulcers after both her first and second coronavirus disease 2019 (COVID-19) vaccine doses. Her course followed an expected timeline for severity and resolution of ulcers. CONCLUSIONS: Aphthous ulcers may arise from inflammatory effects of COVID-19 vaccination. Clinical monitoring after COVID-19 vaccination from all formulations should include assessment for nonsexually acquired genital ulcers if vaginal pain is reported.

Acute Genital Ulceration After Severe Acute Respiratory Syndrome Coronavirus 2 Vaccination and Infection.

Reactive, nonsexually related acute genital ulceration, also known as Lipschütz ulcer, is a nonsexually related ulceration involving the vulva, most commonly affecting girls and adolescent women in response to infection. Herein, we describe 3 female patients with acute genital ulceration occurring after severe acute respiratory syndrome coronavirus 2 vaccination or natural infection.

Long Curriculum 3.0 in Resident Education: Comprehensive Curriculum in Pediatric and Adolescent Gynecology for Postgraduate Trainees in Obstetrics/Gynecology, Pediatrics, and Adolescent Medicine.

In 2015, the Resident Education Committee of the North American Society for Pediatric and Adolescent Gynecology published the Long Curriculum in Resident Education to provide educators with a comprehensive document to be used in postgraduate medical education. The original curriculum was designed to meet the resident learning objectives for the Council on Resident Education in Obstetrics and Gynecology, the American Board of Pediatrics, and the Royal College of Physicians and Surgeons of Canada and to provide a more intensive, broader learning experience. The curriculum was updated in 2018. This Committee Document is the third updated version (3.0) of the Long Curriculum in Resident Education.

Tamoxifen for the Treatment of Etonogestrel Implant-Associated Bleeding in an Adolescent Gynecology Practice.

OBJECTIVE: To describe clinical outcomes in a cohort of adolescent female patients using tamoxifen for the treatment of bothersome etonogestrel (ENG) implant-associated bleeding. DESIGN: Retrospective chart review SETTING: A tertiary children's hospital PARTICIPANTS: Adolescent female patients ages 12-21 seen between August 2016 and August 2019 with an ENG implant in place who received a tamoxifen prescription for the indication of implant-associated bleeding. INTERVENTIONS: None MAIN OUTCOME MEASURES: Main outcome measures were implant continuation rates, average time to implant discontinuation after tamoxifen prescription, reasons for implant removal, number of doses and timing of tamoxifen use, bleeding patterns, and adverse effects. RESULTS: A total of 67 patients met the inclusion criteria. The mean age of patients was 16.7 years old. Of the patients with available follow-up data, 49 out of 60 (81.7%) were still using the implant at 12 months, 29 out of 53 (54.7%) at 24 months, and 9 out of 40 (22.5%) at 36 months. The average time from tamoxifen prescription to implant removal was 12.1 months. Bothersome bleeding was the primary reason for ENG implant discontinuation (68.6%). No side effects from tamoxifen use were reported. CONCLUSION: Tamoxifen was well-tolerated among this cohort of patients and can be considered a treatment option to manage bothersome implant bleeding in adolescents.

Transgender Medicine and Hormone Therapy: What the Gynecologist Needs to Know.

The transgender community comprises individuals with diverse identities in both gender and sexual orientation. Unfortunately, many face discrimination and harassment within our society-including within the medical system. There is an overall lack of provider training in transgender specific health which has led to health disparities and inequities within this population. This chapter aims to elucidate the medical needs unique to transgender and gender nonconforming individuals and thus enable medical providers to meet those needs with competency and compassion.

Resident Education Curriculum in Pediatric and Adolescent Gynecology: The Short Curriculum 3.0.

Exposure to pediatric and adolescent gynecology (PAG) varies across residency programs in obstetrics and gynecology, family medicine, and pediatrics, as well as fellowship programs in adolescent medicine. Nevertheless, these programs are responsible for training residents and fellows and providing opportunities within their programs to fulfill PAG learning objectives. To that end, the North American Society for Pediatric and Adolescent Gynecology has taken a leadership role in PAG education by creating and systematically updating the Short Curriculum. This curriculum outlines specific learning objectives that are central to PAG education and lists essential resources for learners' reference. This updated curriculum replaces the previous 2018 publication with added content, resources, and updated references.

Neovagina stricture complicated by high-grade dysplasia in a patient with history of cloaca and ulcerative colitis: a case report and review of the literature.

Vaginoplasty with colon is a common technique for vaginal replacement in patients with cloaca. Malignancy in the neovagina is a rare outcome and typically presents decades after reconstruction. We present a case of an adolescent female with history of cloaca, ulcerative colitis, and high-grade dysplasia of the sigmoid neovagina.

Comparison of Short-Duration and Chronic Premenarchal Vulvar Complaints.

STUDY OBJECTIVE: To compare clinical characteristics, treatment histories, and microbiology of premenarchal girls who presented to a pediatric gynecology specialty clinic with short-duration and chronic vulvar symptoms. DESIGN: Retrospective cohort study. SETTING: Pediatric and adolescent gynecology clinic at a tertiary care children's hospital. PARTICIPANTS: One hundred eighty-two premenarchal patients ages 2-14 years who presented to a pediatric gynecology specialty clinic with vulvar complaints and who were evaluated with a yeast and/or bacterial culture. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Chronic and short-duration vulvar symptoms, microbiology, and diagnosis. RESULTS: Patients with chronic symptoms were more likely to present with itching (59/102 (57.8%) vs 34/80 (42.5%); P = .04), redness or rash (53/102 (52.0%) vs 22/80 (27.5%); P = .0009), and discomfort (59/102 (57.8%) vs 30/80 (37.5%); P = .006), compared with patients with short-duration symptoms. Overall, 44.5% of patients had a history of antifungal treatment, with a greater proportion of patients with chronic symptoms having received antifungal treatment compared with those with short-duration symptoms (53/102 (52.0%) vs 28/80 (35.0%); P = .02). Despite a history of antifungal treatment in nearly half of the patients, Candida albicans was isolated in only 3/144 (2.1%) yeast cultures. Bacterial vulvar cultures were positive in 75/159 (47.2%), and there was no difference among the symptom duration groups (38/71 (53.5%) vs 37/88 (42.1%); P = .15). CONCLUSION: Vulvovaginitis is a common gynecological diagnosis among premenarchal girls with short-duration and chronic vulvar symptoms. Regardless of symptom duration, yeast cultures are rarely positive. Antifungal treatment should be avoided in toilet-trained prepubertal girls.

Association of a Pediatric Gynecology eLearning Module With Resident Knowledge and Clinical Skills: A Randomized Controlled Trial.

OBJECTIVE: To assess whether a pediatric and adolescent gynecology electronic learning (eLearning) module improves knowledge and clinical performance among obstetrics and gynecology residents. METHODS: We conducted a multi-institutional, single-blinded, randomized controlled trial across four university programs; three had pediatric and adolescent gynecology rotations, and two had pediatric and adolescent gynecology fellowship-trained faculty. Applying permutated block randomization, residents were randomized to no intervention or completion of a validated eLearning module on prepubertal bleeding. All residents subsequently completed a pediatric and adolescent gynecology-related knowledge assessment that queried understanding of prepubertal bleeding and an objective structured clinical examination that assessed history collection, performance of a prepubertal genital examination, vaginal culture, and vaginoscopy for a pediatric patient. Objective structured clinical examinations were videotaped and reviewed by two faculty, blinded to randomization group; interrater reliability score was 97%. We calculated descriptive frequencies and compared randomization groups using χ analyses and Fisher exact tests for categorical variables, and median tests for continuous variables; a value of P<.05 was considered significant. RESULTS: From July 2018 to June 2019, we invited 115 residents to participate; 97 (83%) completed both objective structured clinical examination and follow-up knowledge assessments. Most were female (91%) and the majority reported limited pediatric and adolescent gynecology didactic or clinical experience, with 36% reporting prior didactics on prepubertal vaginal bleeding and 33% reporting prior exposure to the prepubertal genital examination. Forty-five participants (46%) were randomized to the module and groups were similar across training levels. Residents assigned to the module scored significantly higher on the knowledge assessment (4/5 vs 2/5, P<.001) and objective structured clinical examination (13/16 vs 7/16, P<.001) and were more likely to avoid a speculum in the examination of a pediatric patient (95.6% vs 57.7%, P<.001). CONCLUSION: Our pediatric and adolescent gynecology eLearning module resulted in improved short-term resident knowledge and simulated clinical skills among obstetrics and gynecology residents. Applying this learning technique in other programs may help address deficiencies in pediatric and adolescent gynecology education and training.

A cloacal anomaly is not a disorder of sex development.

AIM OF THE STUDY: Misdiagnosing a cloaca as a disorder of sex development may lead to inappropriate testing, treatment, and negative emotional consequences to families. We were impressed by the fact that a significant number of patients suffering from a cloaca were referred to us with the diagnosis of a "disorder of sex development" previously referred as "ambiguous genitalia" or "intersex". On re-evaluation, none of them truly had a disorder of sex differentiation. This prompted us to conduct the following retrospective review to try to find the cause of the misdiagnosis and the way to prevent it. METHODS: A retrospective review of our colorectal database was performed to identify the total number of patients with cloacas and the number initially diagnosed as "ambiguous genitalia, intersex"/disorder of sex development. The external appearance of their genitalia and unnecessary testing or treatment received were recorded. MAIN RESULTS: A total of 605 patients with cloacas were identified. Of these, 77 (12.7%) were referred to us with the diagnosis of "ambiguous genitalia" and 13 of them (17%) went on to receive an intervention that was not indicated: karyotyping (10), steroids (3), and ovarian biopsy (1). The karyotype result in all patients was XX. The misdiagnosis was triggered by the external appearance of the perineum, simulating a case of virilization with a hypertrophic clitoris, but was simply prominent labial skin. Careful examination of the perineal structure allowed us to determine that it consisted of folded skin with no evidence of corpora. CONCLUSION: Patients born with a cloaca are at risk for mismanagement from being erroneously labeled as disorders of sex development. The diagnosis of a cloacal anomaly is a clinical one. The practitioner must distinguish between phallus-like clitoral hypertrophy and a normal clitoris with prominent labial skin.

Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different?

INTRODUCTION: Distal vaginal atresia is a rare condition and treatment approaches are varied, usually driven by symptoms. METHODS: A retrospective review was performed to identify patients with distal vaginal atresia without anorectal malformation. Data collected included age and symptoms at presentation, type and number of operations, and associated anomalies. RESULTS: Eight patients were identified. Four presented at birth with a hydrocolpos and four presented with hematometrocolpos after 12 years of age. Number of operations per patient ranged from one to seven with an average of three. The vaginal reconstruction was achieved by perineal vaginal mobilization in four patients and abdomino-perineal approach in four patients. One patient, with a proximal vagina approximately 7 cm from the perineum, required partial vaginal replacement with colon. In addition, she had hematometrocolpos with an acute inflammation at the time of reconstruction despite menstrual suppression and drainage which may have contributed to the difficulty in mobilizing the vagina. In five patients, distal vaginal atresia was an isolated anomaly. In the other three cases, associated anomalies included: mild hydronephrosis that improved after hydrocolpos decompression (2), cardiac anomaly (2), and vertebral anomaly (1). CONCLUSION: In this series, a distended upper vagina/uterus was a common presentation and the time of reconstruction was driven by the presence of symptoms. Drainage of the hydrocolpos/hydrometrocolpos with menstrual suppression in post-pubertal patients, followed by further work-up, and planned reconstruction is a good surgical strategy.