Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist.

PURPOSE: Mixed gonadal dysgenesis is a difference of sex development that is often confused with other conditions. Individuals have a 45,X/46,XY karyotype. Gonads are characterized by a streak gonad and a dysgenetic testis at varying levels of descent. Persistent Müllerian structures are typical (eg, hemi-uterus). There is significant phenotypic heterogeneity of the internal and external genitalia that, together with different interpretations of the definition, have contributed to a poor understanding of the condition among pediatric urologists. Mixed gonadal dysgenesis is one manifestation of the 45,X/46,XY karyotype. 45,X/46,XY mosaicism can also be associated with typical female or male external genitalia. This review aims to clarify the mixed gonadal dysgenesis definition and to provide urologists with diagnostic and management considerations for affected individuals. MATERIALS AND METHODS: We searched 3 medical databases for articles related to mixed gonadal dysgenesis. 287 full-text abstracts and manuscripts were reviewed for content pertinent to: (1) Clarifying the definition of mixed gonadal dysgenesis, and (2) Describing the following related to the care of affected individuals: prenatal and neonatal evaluation and management, genital surgery, gonadal malignancy risk and management, fertility, gender dysphoria/incongruence, puberty and long-term outcomes, systemic comorbidities, and transitional care. RESULTS: 50 articles were included. Key points and implications for each of the above topics were summarized. CONCLUSIONS: Mixed gonadal dysgenesis exists on a wide phenotypic spectrum and management considerations reflect this heterogeneity. Care for individuals with mixed gonadal dysgenesis is complex, and decisions should be made in a multidisciplinary setting with psychological support.

Turner Syndrome With Y Chromosome and Germ Cells: A Case Report Highlighting the Need to Prioritize Individualized Care.

Turner syndrome (TS) is a genetic condition in phenotypic females in which the individual has 1 intact X chromosome and the second sex chromosome is absent or structurally altered Components of Y chromosome (eg, 45,X/46,XY) have been found in 5%-15% of patients with TS; these patients are often referred to as having "Turner syndrome with Y" (TS+Y). The presence of Y chromosome material increases risk for development of gonadal tumors. Historically, prophylactic gonadectomy has been recommended in this population to prevent malignancy, and patients were presumed infertile due to the presence of streak gonads with no germ cells (GCs). More recently, studies have reported on spontaneous puberty and menarche in TS+Y patients suggesting the presence of viable GC and ovarian function. Our institution offers patients with TS+Y the option of experimental gonadal tissue cryopreservation (GTC) at the time of gonadectomy. We present a unique case of a young girl with TS+Y who had GCs present in her gonads and underwent experimental GTC at the time of gonadectomy.

Pediatric Urologists' Views on the US News & World Report.

PURPOSE: Our goal was to understand the general attitudes of pediatric urologists regarding the US News & World Report rankings for Best Children's Hospitals in Urology. MATERIALS AND METHODS: We performed a cross-sectional survey study distributed via email to active and candidate members of the Societies of Pediatric Urology from October 2022 to December 2022. This anonymous survey was iteratively developed to contain multiple choice questions gathering information on demographics, personal interaction with the rankings system, and about attitudes toward the rankings across various domains. RESULTS: Of the 515 members surveyed, 264 pediatric urologists responded to the survey for a response rate of 51%. There was representation from all sections of the AUA and across all age categories and practice models. Overall, of the respondents, 71% disagreed that the rankings had led to improvements in care and 75% disagreed that programs were reporting their data honestly. Additionally, 71% believed the rankings are inaccurate in reflecting patient outcomes. The majority (86%) of respondents stated they would support organized efforts to withdraw from the rankings. This was significantly different by ranking cohort, with 78% from top 10 programs endorsing withdrawal vs 89% from those programs not in the top 10. CONCLUSIONS: Our survey found that most pediatric urologists would support efforts to withdraw from participating in the rankings and believe that programs are dishonest in reporting their data. The majority also do not believe a survey can adequately distinguish between programs. This highlights a clear need for a critical reevaluation of the rankings.

Recommendations to Improve Neonatal Circumcision Training.

BACKGROUND: Although multiple specialties perform neonatal circumcision (NC), overall NC proceduralist availability is limited. The approach to training new practitioners varies. This study aims to describe NC training experiences, current practices, and make suggestions for future improvements. METHODS: Perinatal physicians across 11 hospitals in a large Midwestern United States city who perform NC or who conduct newborn examinations and provide circumcision counseling were recruited for semistructured interviews about NC care. Interviews were transcribed; training-related comments underwent inductive and deductive qualitative coding. Themes related to circumcision training and recommendations for improving the experience of future circumcision learners were summarized. RESULTS: Twenty-three physicians (10 family medicine, 8 pediatrics, and 5 obstetrics; 78% currently perform circumcision) participated. All participants conducted newborn examinations and provided circumcision counseling, but only 21/23 were trained to perform circumcision. Several themes related to training emerged: (1) personal training experience, (2) training others to perform circumcision, and (3) current training needs and barriers. Most reported learning in residency by a "see one, do one, teach one" approach with minimal formal didactic or structured training. Compared with their personal experience, participants noted a shift toward more direct supervision and preprocedure preparation for current trainees. However, most reported that circumcision learning continues to be "hands-on." Participants desired a more structured approach for future trainees. CONCLUSIONS: Perinatal physicians noted a shift in the current NC training to a more hands-on approach than they experienced personally. Development of a structured NC curriculum was recommended to improve training.

Physician Perspectives on Performing Newborn Circumcisions: Barriers and Opportunities.

OBJECTIVE: Over half of infant boys born in the United States undergo newborn circumcision. However, available data indicate that boys who are publicly insured, or Black/African American, have less access to desired newborn circumcision, thus concentrating riskier, more costly operative circumcision among these populations. This study ascertains perinatal physician perspectives about barriers and facilitators to providing newborn circumcisions, with a goal of informing future strategies to ensure more equitable access. METHODS: Qualitative interviews about newborn circumcision care were conducted from April-June 2020 at eleven Chicago-Area hospitals. Physicians that provide perinatal care (pediatricians, family medicine physicians, and obstetricians) participated in qualitative interviews about newborn circumcision. Inductive and deductive qualitative coding was performed to identify themes related to barriers and facilitators of newborn circumcision care. RESULTS: The 23 participating physicians (78% female, 74% white, median 16 years since medical school graduation [range 5-38 years], 52% hospital leadership role, 78% currently perform circumcisions) reported multiple barriers including difficulty with procedural logistics and inconsistent clinician availability and training; corresponding suggestions for operational improvements were also provided. Regarding newborn circumcision insurance coverage and reimbursement, physicians reported limited knowledge, but noted that some insurance reimbursement policies financially disincentivize clinicians and hospitals from offering inpatient newborn circumcision. CONCLUSIONS: Physicians identified logistical/operational, and reimbursement-related barriers to providing newborn circumcision for desirous families. Future studies and advocacy work should focus on developing clinical strategies and healthcare policies to ensure equitable access, and incentivize clinicians/hospitals to perform newborn circumcisions.

Growth in Newborn Circumcisions Performed by Pediatric Urologists and Advanced Practice Providers Between 2010 and 2021 in the United States.

OBJECTIVE: To characterize changes in the proportion of newborn circumcisions performed by pediatric urologists and advanced practiced providers (APPs) in the United States over the last decade. METHODS: The Merative MarketScan Commercial Database was queried for newborn circumcision private health insurance claims (Common Procedural Terminology 54150) between 2010 and 2021. Setting (inpatient/outpatient), US Census Bureau region, clinician specialty, and patient age (days) were determined for the full study time period, and by study year. Simple linear regression assessed growth in proportion of newborn circumcisions performed by pediatric urologists and APPs (nurse practitioner/physician assistant/midwife), over time. RESULTS: In total, 1,006,748 newborn circumcisions (59% inpatient) were identified; while most were performed by obstetricians (45%) or pediatricians (33%); APPs performed 0.9%, and pediatric urologists performed 0.7%. From 2010-2021, the proportion of newborn circumcisions performed by pediatric urologists increased from 0.3% to 2.0% and by APPs in from 0.5% to 2.9% (P < .001 for both). Growth for both pediatric urologists and APPs occurred APPs predominantly from 2016 to 2021. Trends in proportion of newborn circumcision performed by pediatricians was stable [31.5% (2010) and 32.5% (2021)], but decreased for obstetricians [48.8% (2014) and 38.1% (2021)]. CONCLUSION: The proportion of newborn circumcisions performed by pediatric urologists and APPs increased more than 6-fold between 2010 and 2021, though both specialties still perform a minority of newborn circumcisions. These data provide important baseline information for newborn circumcision workforce planning, including evaluating collaborative care models where pediatric urologists train APPs to perform circumcision.

Retrograde incision from orifice (RIO) technique for endoscopic incision of ureterocele: 15 years of outcomes.

INTRODUCTION: Management of obstructing ureterocele often includes endoscopic transurethral incision (TUI) that can be challenging secondary to uncertainty in anatomic landmarks with risk of serious complications. To this end, we innovated a technique using predictable landmarks that begins endoscopic incision at the ureterocele orifice and extends retrograde proximal to the bladder neck (Figure). OBJECTIVE: With over 15 years of experience in performing this retrograde incision from orifice (RIO) technique, we aimed to examine post-operative outcomes and risk of surgical failure after RIO compared to traditional TUI techniques for ureteroceles. We hypothesized that clinical outcomes after RIO would be superior to traditional endoscopic approaches to decompression of obstructing ureterocele in infants. STUDY DESIGN: A retrospective study of patients ≤12 months old who underwent TUI ureterocele at our institution between 2007 and -2021 was conducted. Pre-, intra- and post-operative characteristics were compared between patients who underwent RIO vs non-RIO TUI. Primary outcome was post-incision febrile urinary tract infection (fUTI). Secondary outcome was a composite failure measure of fUTI, secondary surgery, de novo bladder outlet obstruction, or vesicoureteral reflux. Multivariable Cox proportional hazard models were fitted to compare the time-to-event risk of primary and secondary outcomes between groups. RESULTS: Ninety patients with 92 ureteroceles were included (49 RIO, 43 non-RIO). Median follow-up from TUI was 33 months. RIO had a shorter median operative duration (27 vs 35 min, p = 0.021). Primary and secondary outcomes were similar between groups (fUTI: 29% RIO vs 19% non-RIO, p = 0.27; composite failure 54% RIO vs 69% non-RIO, p = 0.15). In multivariable Cox proportional hazard models, there was no significant difference in risk of fUTI (RIO aHR 0.98, 95% CI 0.38-2.54, p = 0.97) or composite failure (RIO aHR 0.80, 95% CI 0.45-1.44, p = 0.46) between TUI techniques. DISCUSSION: RIO technique for TUI ureterocele is attractive in that it uses predictable anatomic landmarks making it simple to perform. In analyzing this 15-year institutional experience of TUI ureterocele, RIO showed similar success to non-RIO endoscopic incisions. This study is a retrospective, non-randomized, single-institutional study over 15 years and is therefore subject to change in surgeon practice over time and variable practices between providers. CONCLUSIONS: Given comparable success and durability over time to other TUI ureterocele techniques, and with the advantage of operator ease using consistent anatomic landmarks, RIO is a worthy option for endoscopic ureterocele decompression.

Differences of Sex Development: Current Issues and Controversies.

Differences of sex development (DSD) encompass a broad range of conditions in which the development of chromosomal, gonadal, or anatomic sex is not typically male or female. Terms used to describe DSD are controversial, and continuously evolving. An individualized, multidisciplinary approach is key to both the diagnosis and management of DSD. Recent advances in DSD care include expanded genetic testing options, a more nuanced approach to gonadal management, and an emphasis on shared decision-making, particularly related to external genital surgical procedures. The timing of DSD surgery is currently being questioned and debated in both medical and advocacy/activism spheres.

Differential Insurance Plan Coverage and Surgeon Reimbursement of Pediatric Circumcision at an Urban, Midwestern Hospital.

OBJECTIVE: To explore private vs public pediatric circumcision insurance coverage and surgeon reimbursement. METHODS: A telephone survey about circumcision coverage (Current Procedural Terminology codes: 54150, 54161) was conducted in October 2021 with insurance plan representatives from the 12 plans that comprised ≥1% of institutional pediatric urology visits to compare plan characteristics and coverage details. Circumcision billing data were collected at one pediatric hospital to assess surgeon reimbursement (insurance+patient payment) by plan type using bivariate statistics. RESULTS: Ten plans (5 private and 5 public) responded (83.3% response rate). All except one public plan covered newborn circumcision. For non-newborn circumcisions, most public plans (80%) had unrestricted coverage, whereas all private plans required medical necessity. Median reimbursement for newborn circumcision (CPT: 54150) was $484 for private and $78 for public plans, P < .001 while median reimbursement for non-newborn circumcision (CPT: 54161) was $314 for private and $147 for public plans, P < .001. CONCLUSION: Private insurance plans reimburse significantly more than public plans for newborn circumcision. For non-newborn circumcision, private plans reimburse more than public but the coverage is more restricted, with a smaller differential between newborn and non-newborn circumcision. This coverage and reimbursement structure may indirectly encourage newborn circumcision for privately insured boys and non-newborn circumcision for publicly insured boys.

Lack of Medicaid Coverage of Routine Newborn Circumcision Leads to Increased Operative Circumcisions, Chordee Procedures, and Balanitis.

OBJECTIVE: To compare proportions of newborn circumcisions, operative circumcisions, chordee procedures, and cases of balanitis in states where Medicaid covers newborn circumcision (covered states) versus states that do not (noncovered states) using the pediatric health information system database. METHODS: A retrospective review of pediatric health information system data was conducted from 2011 to 2020. The proportions and median ages of newborn circumcision current procedural terminology (CPT 54,150, 54,160), operative circumcision (CPT 54,161), chordee (CPT 54,360), and balanitis (ICD-9 607.1, ICD-10 N48.1, N47.6) were compared in covered versus noncovered states. RESULTS: A total of 118,530 circumcisions were reviewed. Covered states had significantly higher proportions of circumcision overall (9.7% vs 7.1%, P < 0.0001). Noncovered states had significantly higher proportions of Medicaid-covered operative circumcisions (54.9% vs 47.7%, P < 0.0001). Compared to covered states, noncovered states had significantly higher median ages of all types of circumcisions. Noncovered states also had higher numbers of balanitis cases and double the incidence of balanitis compared with covered states. The median age of chordee (1.07 vs 0.79 years, P < 0.0001) and proportion of chordee repairs (15.2% vs 12.9%, P < 0.0001) were also significantly higher in noncovered states. CONCLUSION: The lack of Medicaid coverage of circumcision increases the number of foreskin procedures done in the operating room. In addition, in states without Medicaid coverage of circumcision, there is an increased burden of disease related to the foreskin. These findings represent a need to further investigate the costs of healthcare associated with Medicaid coverage of circumcision or the lack thereof.

Workflow for Management of Gonadal Neoplasm in 2 Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol.

OBJECTIVE: To outline our experimental gonadal tissue cryopreservation (GTC) protocol that does not disrupt the standard of care in medically-indicated gonadectomy for patients with differences of sex development, including highlighting the multidisciplinary collaborative protocol for when neoplasm is discovered in these cases. METHODS: Two patients with complete gonadal dysgenesis who were undergoing medically-indicated prophylactic bilateral gonadectomy elected to pursue GTC. Both were found to have germ cell neoplasia in situ on initial pathologic analysis, requiring recall of the gonadal tissue, which had been cryopreserved. RESULTS: Cryopreserved gonadal tissue was successfully thawed and transferred to pathology for complete analysis. No germ cells were identified in either patient nor were found to have malignancy, so further treatment beyond gonadectomy was not indicated. Pathologic information was communicated to each family, including that long-term GTC was no longer possible. CONCLUSION: Organizational planning and coordination between the clinical care teams, GTC laboratory, and pathology were key to handling these cases with neoplasia. Processes that anticipated the possibility of discovering neoplasia within tissue sent to pathology and the potential need to recall GTC tissue to complete staging included (1) documenting the orientation and anatomical position of tissue processed for GTC, (2) defining parameters in which tissue will be recalled, (3) efficiently thawing and transferring GTC tissue to pathology, and (4) coordinating release of pathology results with verbal communication from the clinician to provide context. GTC is desired by many families and at the time of gonadectomy and is (1) feasible for patients with DSD, and (2) did not inhibit patient care in 2 patients with GCNIS.

Robot-assisted Laparoscopic Pyeloplasty: Experience of a Single Pediatric Institution, Including Long-term and Safety Outcomes.

OBJECTIVE: To evaluate the efficacy and safety of robot-assisted laparoscopic pyeloplasty (RALP) and describe the short and long-term outcomes of pediatric RALP. METHODS: We retrospectively reviewed all patients ..±21 years old who underwent primary RALP from 7/2007 through 12/2019. Patients were excluded from postoperative analysis if follow-up data after stent removal was not available. The primary outcome was surgical success, defined as radiographic improvement of hydronephrosis without need for reoperation. Secondary outcomes were time to reoperation and 90-day complication rate. RESULTS: A total of 356 patients underwent primary repair of ureteropelvic junction obstruction during the study period; 29.ßpatients were limited to intraoperative data due to lack of follow-up imaging. Radiographic improvement at latest follow-up was seen in 308/327 (94.2%). Ten of 327 patients (3.1%) underwent reoperation: 7 were identified within 1 year of RALP and 3 were identified over 1 year after RALP. The median time to reoperation was 13.0 months (IQR 9.3-21.7). We defined long-term as>3 years after pyeloplasty. Over one-third (122/327, 37.3%) of the cohort had>3 years of follow-up, none of whom developed evidence of recurrent obstruction requiring reoperation beyond 3 years. Complications occurred within 90 days of surgery in 20/327 (6.1%). CONCLUSION: This largest single-institution series confirms short- and long-term surgical effectiveness and safety of RALP. Our data also indicate that most patients who needed reoperation were identified within 1 year, and reoperation more than 3 years after RALP is rare.

The past, present and future of ACS NSQIP-Pediatric: Evolution from a quality registry to a comparative quality performance platform.

Quality and process improvement (QI/PI) in children's surgical care require reliable data across the care continuum. Since 2012, the American College of Surgeons' (ACS) National Surgical Quality Improvement Program-Pediatric (NSQIP-Pediatric) has supported QI/PI by providing participating hospitals with risk-adjusted, comparative data regarding postoperative outcomes for multiple surgical specialties. To advance this goal over the past decade, iterative changes have been introduced to case inclusion and data collection, analysis and reporting. New datasets for specific procedures, such as appendectomy, spinal fusion for scoliosis, vesicoureteral reflux procedures, and tracheostomy in children less than 2 years old, have incorporated additional risk factors and outcomes to enhance the clinical relevance of data, and resource utilization to consider healthcare value. Recently, process measures for urgent surgical diagnoses and surgical antibiotic prophylaxis variables have been developed to promote timely and appropriate care. While a mature program, NSQIP-Pediatric remains dynamic and responsive to meet the needs of the surgical community. Future directions include introduction of variables and analyses to address patient-centered care and healthcare equity.

Prospective evaluation of a pediatric urodynamics protocol before and after limiting urine cultures.

PURPOSE: While our institution has historically obtained a urine culture (UCx) from every child at the time of urodynamics (UDS), no consensus exists on UDS UCx utility, and practice varies widely. This study aims to prospectively study our symptomatic post-UDS UTI rate before and after implementing a targeted UCx protocol. MATERIALS AND METHODS: A 2-part prospective study of patients undergoing UDS at one pediatric hospital was undertaken, divided into Phase 1 (7/2016-6/2017) with routine UCx at the time of UDS and Phase 2 (7/2019-6/2020) after implementation of a protocol limiting UCx at the time of UDS to only a targeted subset of patients. The primary outcome was symptomatic post-UDS UTI, defined as positive UCx ≥10ˆ4 CFU/mL and fever ≥38.5 °C or new urinary symptoms within seven days of UDS. RESULTS: A total of 1,154 UDS were included: 553 in 483 unique patients during Phase 1 and 601 in 533 unique patients during Phase 2. Age, sex, race, ethnicity, and bladder management did not differ significantly between phases. All 553 UDS in Phase 1 had UCx at the time of UDS, compared to 34% (204/601) in Phase 2. The rate of positive UCx decreased from 39% in Phase 1-35% in Phase 2. Three patients developed symptomatic post-UDS UTI in each study period, resulting in a stable post-UDS UTI rate of 0.5% (3/553) in Phase 1 and 0.5% (3/601) in Phase 2. These patients varied in age, sex, UDS indication, and bladder management. Four of the six (67%) patients had positive UCx at the time of UDS, one had a negative UCx, and one had no UCx under the targeted UCx protocol. Predictors of symptomatic post-UDS UTI could not be evaluated. DISCUSSION: In the largest prospective study to date, we found that symptomatic post-UDS UTI was <1% and that UCx at the time of UDS can safely be limited at our hospital. This reduction has important implications for cost containment and antibiotic stewardship. We will continue iterative modifications to our protocol, which may eventually include the elimination of UCx at the time of UDS in all groups. CONCLUSIONS: This 2-part prospective evaluation at one pediatric hospital determined that the symptomatic post-UDS UTI rate remained <1% with no identifiable predictors after limiting previously universal UCx at the time of UDS to only a targeted subset of patients.