Challenges in Prenatal Treatment with Dexamethasone.

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency causes elevated androgen levels, which can lead to virilization of female external genitalia. Prenatal dexamethasone treatment has been shown to be effective in preventing virilization of external genitalia when started prior to 7-9 weeks of gestation in females with classic CAH. However, CAH cannot be diagnosed prenatally until the end of the first trimester. Treating pregnant women with a fetus at risk of developing classic CAH exposes a significant proportion of fetuses unnecessarily, because only 1 in 8 would benefit from treatment. Consequently, prenatal dexamethasone treatment has been met with much controversy due to the potential adverse outcomes when exposed to high-dose steroids in utero. Here, we review the short- and long-term outcomes for fetuses and pregnant women exposed to dexamethasone treatment, the ethical considerations that must be taken into account, and current practice recommendations.

Gynecologic findings in Goltz syndrome: A case series.

There is limited information available related to the gynecologic findings in Goltz syndrome. We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Some of our findings have been reported previously; however, some novel features including short perineum body not previously mentioned are noted as well. We recommend referral to a pediatric gynecologist for early evaluation of the reproductive tract as this can have an impact on the future fertility of these girls.

Surgical Management of OHVIRA and Outcomes.

STUDY OBJECTIVE: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) includes uterine didelphys, unilateral obstructed hemivagina, and ipsilateral renal anomaly. Surgical management of this condition relies on accurate diagnosis to excise the obstructed longitudinal vaginal septum (OLVS). Vital considerations involve identifying the side affected, ipsilateral renal anomaly (IRA), thickness of the septum (TS), septal axis (SA), and distance of the septum to perineum (DSP). The study aimed to evaluate the preoperative characteristics, imaging findings, and surgical outcomes of OHVIRA. METHODS: Institutional review board approval was obtained for this retrospective chart review. ICD-10 codes identified OHVIRA cases between 2012 and 2019 at a single children's hospital. Patient demographic characteristics, magnetic resonance imaging findings, surgical management, outcomes, and complications were reviewed. Descriptive statistics were utilized. RESULTS: Twenty-six patients met inclusion criteria. Most were diagnosed at puberty (92%). Abdominal pain (50%) was the most common presenting complaint. The mean age of diagnosis was 13.2 years overall and 11.2 years for those with regular cycles vs 13.4 years for those with irregular cycles. Preoperative imaging showed predominant right-sided OLVS (50%), IRA (77%), and oblique SA (65%). All patients underwent vaginoscopy, septum resection, and vaginoplasty, except 1 who was managed with an abdominal drain as a neonate. Four required postoperative vaginal stent or Foley, with DSP greater than 5 cm in all cases. One intraabdominal abscess complication occurred. No instances of hematocolpos re-accumulation or reoperation were observed during the 3-year follow-up period. CONCLUSION: This study demonstrates that detailed preoperative planning and a systematic surgical approach lead to favorable outcomes in OHVIRA irrespective of the OLVS laterality, TS, SA, or DSP.

Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype.

BACKGROUND: Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation. CASE: We present the case of a TS patient with 45,X/46,XY with 2 episodes of left adnexal torsion (AT). Biopsies during detorsion showed benign mucinous cystadenoma. Pathology following bilateral gonadectomy revealed a left gonad with mucinous borderline tumor and right gonad with gonadoblastoma, both of which have malignant potential. SUMMARY AND CONCLUSION: Gonadectomy is recommended in XY gonadal dysgenesis to decrease risk of malignant transformation from gonadoblastoma. Although rare in pediatric patients, ovarian malignancies have been identified among AT cases. To our knowledge, we present the first case of AT due to borderline ovarian mucinous tumor of the ovary and contralateral gonadoblastoma in a patient with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype.

Does a Bleeding Disorder Lessen the Efficacy of the 52-mg Levonorgestrel-Releasing Intrauterine System for Heavy Menstrual Bleeding in Adolescents? A Retrospective Multicenter Study.

PURPOSE: The aim of this study is to compare the patient-reported bleeding outcomes and complication rates with the use of the 52-mg levonorgestrel-releasing intrauterine system (52-LNG-IUS) for treatment of heavy menstrual bleeding (HMB) among adolescents with and without a diagnosed inherited bleeding disorder (BD) within the first 12 months after insertion. METHODS: Retrospective chart review was conducted of adolescents ages 14-21 years, with and without an inherited BD, who underwent 52-LNG-IUS insertion between September 2013 and February 2020 for the treatment of HMB. RESULTS: One hundred forty-four 52-LNG-IUS insertions among 139 subjects were evaluated. Fifty-nine (41%) of these were among adolescents with a diagnosed inherited BD, and 85 (59%) were among those without a BD. Among subjects with follow-up, documentation of patient-reported bleeding outcome, and a retained IUS (92/144), both groups subjectively reported improvement in bleeding outcome, with 91.7% (33/36) of those with a BD and 94.6% (53/56) of those without a BD reporting that bleeding outcome was better than prior to IUS insertion (p = .675). There was no statistically significant difference in the rate of spontaneous expulsion (p = .233), with the rate of expulsion in the first 12 months after placement among those with a BD of 13.7% (7/51) and 6.8% for those without a BD (5/72). DISCUSSION: Adolescents with HMB both with and without an inherited BD benefit from the 52-LNG-IUS for the treatment of HMB. Rates of spontaneous IUS expulsion are not statistically different regardless of the presence of a BD and are similar to rates found in other studies of intrauterine device use in adolescents.

Reproductive health counseling and contraceptive use in adolescents with cystic fibrosis.

BACKGROUND: Cystic fibrosis (CF) is a progressive, genetic disease posing reproductive health concerns to affected women, such as high-risk pregnancies and medication interactions leading to contraceptive failure. Reproductive health counseling in this population is of the utmost importance, but barriers to providing it include lack of time, knowledge, and provider discomfort. We sought to evaluate reproductive health counseling and contraceptive use in female adolescent CF patients. METHODS: An Institutional Review Board approved retrospective chart review was performed between March 2008 and March 2018. Females 10-21 years old with the diagnosis of CF were reviewed. Descriptive statistics were used. RESULTS: Thirty-three patients met inclusion criteria: 16 non-sexually active and 17 sexually active. Thirteen patients were counseled about pregnancy risks. All sexually active patients used contraception, with the most common being condoms and combined oral contraceptive pills. Six pregnancies occurred, resulting in five live births and one termination. CONCLUSIONS: Less than half of patients were counseled about pregnancy and contraception, and most patients chose high failure methods. Female adolescents with CF should be routinely screened for sexual activity, offered long-acting reversible contraception, and counseled on the effects of CF on pregnancy.

Provider Attitudes and Practices Regarding Intrauterine System (IUS) Insertion in Adolescents With and Without Bleeding Disorders for Management of Heavy Menstrual Bleeding.

STUDY OBJECTIVE: Heavy menstrual bleeding (HMB) may be the sentinel event for identifying a patient with a bleeding disorder (BD). The levonorgestrel intrauterine system (LNG IUS) has been proposed as a treatment for HMB in adolescents with and without BDs; however, no standard protocols for LNG IUS insertion in these populations exist. Providers were surveyed regarding the use of the LNG IUS in adolescents with HMB, with and without BD. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: An institutional review board-approved survey assessing provider attitudes, LNG IUS insertion practices, and patient outcomes in adolescents with HMB, with and without BD, was electronically distributed to 3523 providers in the fields of hematology, adolescent medicine, and obstetrics and gynecology. Descriptive analysis was performed. RESULTS: A total of 312 respondents across all 3 specialties completed the survey. Nearly 100% of respondents considered the LNG IUS safe and effective treatment for adolescents with HMB, both with and without BD. Additionally, 66% of providers chose LNG IUS as the ideal treatment for HMB in patients with BD. Differences were noted in clinical setting for LNG IUS insertion, peri-procedural medication use, and post-procedure follow-up among specialties. Providers across all specialties reported low complication rates related to IUS insertion and use in both patient groups. CONCLUSION: Providers considered the LNG IUS safe and effective treatment for HMB in adolescents with and without a diagnosed BD. Practice patterns regarding LNG IUS insertion in this population vary. Further research is necessary to explore IUS outcomes in adolescent patients with HMB, with and without BD, and to inform evidence-based protocols for LNG IUS insertion.

Prepubertal Bleeding as a Presenting Symptom of Von Willebrand Disease: A Case Report.

BACKGROUND: Von Willebrand disease (VWD) affects approximately 1% of the population and is often diagnosed after the presentation of mucocutaneous bleeding. CASE: A 7-year-old girl with eczema and constipation presented to clinic reporting vaginal bleeding. External genital examination findings were normal, and results of a workup for precocious puberty were negative. Vaginoscopy revealed an atypical appearance with increased vascularity and friability. Oral mucosal bleeding at the time of extubation prompted additional workup and hematology referral, which led to diagnosis of type I VWD. SUMMARY AND CONCLUSION: It is important to keep bleeding disorders on the differential, for unexplained prepubertal vaginal bleeding, to aid in prompt diagnosis.

Successful Pregnancy after Intervention for Spindle-Cell Embryonal Rhabdomyosarcoma: A Case Report.

BACKGROUND: Embryonal rhabdomyosarcoma, the most common soft tissue malignancy in childhood, is treated with surgery and chemotherapy. Because of the young age at the time of presentation, a discussion of future reproduction is appropriate and conservative management should be considered. We present a case of embryonal rhabdomyosarcoma that was successfully and conservatively managed with chemotherapy, allowing for future pregnancies. CASE: A 17-year-old nulliparous woman with embryonal rhabdomyosarcoma underwent 6 cycles of chemotherapy with adriamycin, dacarbazine, cyclophosphamide, and vincristine, resulting in radiographic resolution of the disease. She was able to conceive without medical intervention and to have successful vaginal deliveries. SUMMARY AND CONCLUSION: The standard of care for embryonal rhabdomyosarcoma is surgery and chemotherapy; however, conservative management should be considered when preservation of fertility is a goal.

Development of a multidisciplinary colorectal and pelvic health program: Program implementation and clinical impact.

INTRODUCTION: Pediatric patients with complex colorectal and genitourinary conditions often require coordinated multidisciplinary care; however, this coordinated care can be hard to structure and deliver. The purpose of this paper is to review the development and implementation of a multidisciplinary colorectal and pelvic health program, one year after the program's initiation. METHODS: This is an observational retrospective 1-year study (10/1/2017 to 9/30/2018). In fiscal year (FY) 2018, a multidisciplinary colorectal and pelvic health program was initiated. The program development incorporated bimonthly team meetings, educational conferences, and initiation of three clinics: a complex colorectal and genitourinary reconstruction clinic, a bowel management clinic, and a colonic motility clinic. Conditions treated included complex anorectal and cloacal malformations, Hirschsprung disease, and idiopathic constipation. The fiscal year was selected to provide comparative administrative data after program implementation. RESULTS: During the study period, 121 patients underwent comprehensive collaborative evaluation of which 58 (47%) were new to the institution compared to 12 (19%) new patients in the previous year (p < 0.001). In FY 2018, there were 130 procedures performed and 512 collaborative visits with an average of 47 visits per month. This was a 3.4-fold increase in visits compared to FY2017 (171 visits). Of the new patients, 60% (35/58), traveled a median of 181 miles, representing 33 statewide counties, and 4 states compared to a median of 93 miles in the previous fiscal year (p = 0.004). CONCLUSION: The development of a colorectal and pelvic health program is feasible and requires a collaborative approach, necessitating multiple service lines within an institution. Program creation and implementation can result in rapid institutional clinical growth by filling a local and regional need through coordinated multidisciplinary care. LEVEL OF EVIDENCE: IV.

Intrauterine Foley Balloon Catheter to Manage Acute Heavy Menstrual Bleeding in a Perimenarchal 10-Year-Old Girl.

BACKGROUND: Intrauterine balloon tamponade is commonly used to treat postpartum hemorrhage refractory to pharmacologic interventions. It has not been well-studied in girls or adolescents for treatment of acute heavy menstrual bleeding. CASE: A 10-year old girl presented with heavy menstrual bleeding that did not respond to medical management. Placement of a Foley catheter for intrauterine tamponade was used to control bleeding. She was subsequently diagnosed with a platelet function disorder. CONCLUSION: Foley catheter placement is a low-risk, low-cost, and readily accessible option for intrauterine tamponade to consider for young girls and adolescents with acute heavy menstrual bleeding resistant to medical management.

Maternal Placentophagy as a Possible Cause of Breast Budding and Vaginal Bleeding in a Breast-Fed 3-Month-Old Infant.

BACKGROUND: Placentophagy, or the practice of placental consumption, has grown in popularity over the past decade. Although advocates endorse prevention of postpartum depression, increased breast milk production, reduction in postpartum bleeding, and provision of nutrients postpartum, scientific studies have failed to show benefit. No studies have explored the effect of placental hormone consumption on the hypothalamic-pituitary-ovarian axis of the offspring. CASE: We present a case of vaginal bleeding and breast budding in a 3-month-old infant whose mother was exclusively breastfeeding. Maternal history was notable for placentophagy. Upon discontinuation of consuming encapsulated placenta, the infant's vaginal bleeding resolved. SUMMARY AND CONCLUSION: Our case raises concerns regarding placentophagy and infant endocrine function. More research is needed to assess maternal and infant exogenous estrogen exposure with maternal placental consumption.

Intrauterine Devices: Effective Contraception with Noncontraceptive Benefits for Adolescents.

Although adolescent pregnancy and birth rates have been declining since the early 1990s, the rate of intrauterine device (IUD) use in adolescents remain low. IUDs are a highly effective contraceptive method with a failure rate of less than 1%. There are currently 5 IUDs available and marketed in the United States: the nonhormonal copper-containing IUD (Paragard Copper T380A; Ortho-McNeil) and 4 hormonal levonorgestrel-releasing intrauterine systems (LNG-IUDs). IUDs can be used in adolescents, and the LNG-IUD has many noncontraceptive benefits including the treatment of heavy menstrual bleeding, dysmenorrhea, pelvic pain/endometriosis, and endometrial hyperplasia/endometrial cancer. In addition, the LNG-IUD is an effective tool for suppression of menses.

Adnexal Torsion in Children and Adolescents: A Retrospective Review of 245 Cases at a Single Institution.

STUDY OBJECTIVE: Adnexal torsion (AT) requires urgent surgical intervention to preserve ovarian function. Historically, treatment for AT was oophorectomy because of concerns related to leaving a nonviable ischemic ovary. No published studies support these theoretical concerns and current literature supports conservative management. The aim of this study was to review the institutional outcomes for AT cases, including salvage rates and complications. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This study was approved by the institutional review board at Baylor College of Medicine. A retrospective chart review on cases of AT from 2007 to 2016 at a single Children's hospital was performed on the basis of International Classification of Diseases, 10th revision and Current Procedural Terminology codes. A standardized chart review form was used in data extraction. Statistical analysis was performed using SAS version 9.4 (SAS Institute). RESULTS: Chart review identified 245 torsion cases in 237 patients. The mean age was 12.4 ± 3.29 years. Of the participants, 230 (94%) underwent minimally invasive laparoscopy with ovarian preservation in 233 (95%) of the cases. There were no complications due to detorsion of the affected adnexa. Intraoperatively, the right adnexa was affected in 134 (55%) cases and a lesion was noted in 193 (79%) cases, most commonly paratubal cysts and mature teratomas. The malignancy rate was low, noted only in 4/245 patients at (1.2%). Pediatric gynecology performed most of the cases (n = 214; 87%). CONCLUSION: The findings of our study continue to support the conservative management of patients with AT.

Adnexal Torsion.

Adnexal torsion is an uncommon gynecologic disorder caused by the partial or complete rotation of the ovary and/or the fallopian tube on its vascular support. Delay in treatment can impact fertility adversely. The objective of this report is to provide clinical recommendations based on the latest evidence. Specifically we discuss epidemiology, clinical presentation, diagnostic approach and management of adnexal torsion in adolescents.

Medical Child Abuse: A Case Presenting as Anogenital Bleeding of Unknown Origin in an Older Child.

BACKGROUND: Medical child abuse is a challenging diagnosis to make, particularly in older children with unusual presenting symptoms. CASE: A 7-year-old child with complex medical history presented with anogenital bleeding of unknown origin. Extensive laboratory testing, imaging studies, and diagnostic procedures were negative for any etiology. Forensic testing confirmed the blood in her underwear was a genetic match to the patient. Trial separation from the mother was diagnostic and therapeutic in this case. SUMMARY AND CONCLUSION: Older children who are victims of medical child abuse might present in a variety of ways, and might even collaborate with the perpetrator in falsifying symptoms. It is important to keep medical child abuse on the differential when the patient's symptoms and work-up do not match.

Assessing the Experience of Vaginal Dilator Use and Potential Barriers to Ongoing Use among a Focus Group of Women with Mayer-Rokitansky-Küster-Hauser Syndrome.

STUDY OBJECTIVE: To assess the experience of dilator use for neovagina creation in women diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and identify barriers affecting patient compliance with dilator use. DESIGN AND SETTING: This was a qualitative study using a structured questionnaire to investigate perception and identify barriers regarding vaginal dilator use. A questionnaire was administered after participants viewed a 2-minute patient educational video to additionally examine the usefulness of a patient education video tool as an adjunct to counseling in clinic on vaginal dilator use. PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: We enrolled 13 adolescent girls and women diagnosed with MRKH, aged 14-48 years, recruited from clinic and during a conference geared toward women affected by MRKH. RESULTS: The mean age of participants was 26 (±11.4) years with most diagnosed between the ages of 12 and 18 years. Of all participants, 69% (9/13) reported ever being sexually active with a mean age of coitarche of 16 (±2.6) years. Seventy-seven percent (10/13) reported current or past use of vaginal dilators, and most had some previous education on dilator use. Only 15% (2/13) reported no previous exposure to an educational tool. After viewing the 2-minute educational video, all participants rated it very helpful using a Likert scale (strongly agree to strongly disagree). Major themes that emerged as perceived barriers to dilator use included viewing dilation as a negative experience, uncertainty about success, and lack of motivation. CONCLUSION: Education is an integral part of improving compliance with vaginal dilator use among adolescent girls and women affected by MRKH. Technology can be used to reinforce face-to-face counseling in the clinic. To our knowledge, this is the first study to specifically investigate patient experience with dilator use and opinion regarding the use of video technology to demonstrate self-directed neovagina creation in an MRKH population. The barriers identified in this study provide new insights to inform future research and clinical management of dilator use.

Levonorgestrel-Releasing Intrauterine Device Use in Female Adolescents with Heavy Menstrual Bleeding and Bleeding Disorders: Single Institution Review.

STUDY OBJECTIVE: To identify complications and efficacy of the levonorgestrel-releasing intrauterine device (LNgIUD) in adolescents with heavy menstrual bleeding (HMB) and bleeding disorders (BD). DESIGN, SETTING, AND PARTICIPANTS: A retrospective chart review of 13 postmenarchal adolescent girls with HMB/BD who underwent placement of an LNgIUD. INTERVENTIONS: Placement of an LNgIUD. MAIN OUTCOME MEASURES: Primary outcome was to identify complications from placement of an LNgIUD. Secondary outcome was to evaluate the efficacy of the LNgIUD in adolescents with BD. RESULTS: Thirteen patients met study criteria. The mean age of diagnosis of HMB was 14.08 ± 1.75 years. BD or bleeding risk factor diagnoses included low von Willebrand (VW) activity in 5, type I VW disease in 5, type IIM VW disease in 1, low VW activity and factor 7 deficiency in 1, and acquired VW disease and factor 7 deficiency in 1. Before LNgIUD placement, other hormonal therapy (n = 13) and hemostatic therapy (antifibrinolytic agents, desmopressin acetate; n = 8) yielded poor control of HMB. The LNgIUD was placed using anesthesia with periprocedure hemostatic therapy with no complications. All patients reported significant improvement in HMB after LNgIUD placement and 60% achieved amenorrhea, with mean time to improvement of 94 ± 69 days. Mean hemoglobin and ferritin levels increased after LNgIUD placement compared with before LNgIUD placement values (P = .02, P = .0085, respectively). Use of supplemental hormonal and hemostatic agents decreased (n = 4) after LNgIUD placement. None required LNgIUD removal; 1 spontaneously expelled the LNgIUD with subsequent replacement. CONCLUSION: Study results indicated the LNgIUD is an effective therapeutic option in postmenarchal adolescents with HMB due to BD/bleeding risk factor with minimal complications, high compliance rate, improvement in HMB and anemia, and no periprocedural bleeding with hemostatic management.

Intraoperative Rupture of Ovarian Dermoid Cysts in the Pediatric and Adolescent Population: Should This Change Your Surgical Management?

STUDY OBJECTIVE: (1) To determine the incidence of chemical peritonitis after cystectomy for ovarian dermoid cysts with intraoperative cyst rupture in the pediatric and adolescent population; and (2) to examine the intraoperative and postoperative outcomes of cystectomies performed for ovarian dermoid cysts using laparoscopy and laparotomy, especially those with intraoperative cyst rupture. DESIGN: A retrospective cohort study of female patients who underwent ovarian cystectomy with proven ovarian dermoid pathology between July 2007 and July 2015. SETTING: Texas Children's Hospital, Houston, Texas. PARTICIPANTS: One hundred forty-four patients between the ages of 1 and 21 years who underwent an ovarian cystectomy with proven benign ovarian dermoid histology on the basis of pathology reports. INTERVENTIONS AND MAIN OUTCOME MEASURES: Occurrence of spill of cyst contents, chemical peritonitis, postoperative complications, and hospital readmissions. RESULTS: One hundred forty-four female patients underwent cystectomy (38 laparotomy and 106 laparoscopy) resulting in benign ovarian dermoid histology. Their mean age was 12.4 ± 4.1 years (range, 1-21), mean cyst size was 9.2 ± 6.4 cm (range, 1-30 cm), no patients had elevated tumor markers, 42 (29.1%) presented with torsion, 73 (50.7%) had cyst fluid spill, and there were no cases of chemical peritonitis. Few significant differences were found between cases performed via laparoscopy and laparotomy and those with and without intraoperative cyst rupture resulting in spill of contents. Laparotomy cases were found to have larger mean cyst size (P < .001), estimated blood loss (P = .003), and presence of bilateral cysts (P = .017) compared with laparoscopic cases. Cyst fluid spill occurred in more laparoscopic cases ([67/106] 63.2% vs [6/38] 15.8%; P < .001), and risk increased with cyst size greater than 5 cm (P < .001). In the laparoscopy group, cyst size greater than 5 cm was more likely to present with torsion (P < .001). There was no significant difference in the repeat cystectomy rate between the laparoscopy and laparotomy groups even with cyst rupture (P = .394). Only 5 cases presented to the emergency room postoperatively and 2 were admitted postoperatively for umbilical port site dehiscence and pyelonephritis. CONCLUSION: Laparoscopic cystectomy of ovarian dermoid cysts is associated with greater intraoperative cyst rupture. However, cyst rupture is rarely associated with complications, therefore minimally invasive surgical management of ovarian dermoid cysts is a reasonable surgical approach.