Recommendations for 46,XX Congenital Adrenal Hyperplasia Across Two Decades: Insights from the North American Differences of Sex Development Clinician Survey.

Several aspects of clinical management of 46,XX congenital adrenal hyperplasia (CAH) remain unsettled and controversial. The North American Disorders/Differences of Sex Development (DSD) Clinician Survey investigated changes, over the last two decades, in clinical recommendations by specialists involved in the management of newborns with DSD. Members of the (Lawson Wilkins) Pediatric Endocrine Society and the Societies for Pediatric Urology participated in a web-based survey at three timepoints: 2003-2004 (T1, n = 432), 2010-2011 (T2, n = 441), and 2020 (T3, n = 272). Participants were presented with two clinical case scenarios-newborns with 46,XX CAH and either mild-to-moderate or severe genital masculinization-and asked for clinical recommendations. Across timepoints, most participants recommended rearing the newborn as a girl, that parents (in consultation with physicians) should make surgical decisions, performing early genitoplasty, and disclosing surgical history at younger ages. Several trends were identified: a small, but significant shift toward recommending a gender other than girl; recommending that adolescent patients serve as the genital surgery decision maker; performing genital surgery at later ages; and disclosing surgical details at younger ages. This is the first study assessing physician recommendations across two decades. Despite variability in the recommendations, most experts followed CAH clinical practice guidelines. The observation that some of the emerging trends do not align with expert opinion or empirical evidence should serve as both a cautionary note and a call for prospective studies examining patient outcomes associated with these changes.

A Case of Ewing Sarcoma of the Bladder Presenting in Early Infancy.

A 6-week-old female presented with gross hematuria and was diagnosed with Ewing sarcoma of the bladder through ultrasound and cystoscopic biopsies, along with a negative metastatic workup. She was treated with transurethral resection, chemotherapy consisting of with vincristine, cycolphosphamide, doxorubicin, ifosfamide and etoposide, and partial cystectomy. After completing chemotherapy, the patient has been doing well with no evidence of disease. There have been 14 other cases, 4 pediatric, of Ewing sarcoma of the bladder reported. To our knowledge, our case is the youngest patient reported with this disease.

Update on Multicystic Dysplastic Kidney.

Multicystic dysplastic kidney (MCDK) is the most common cause of cystic disease in children. It is characterized by multiple non-communicating cysts of varying sizes with no identifiable normal renal parenchyma. The incidence ranges from 1 in 1000 to 4300 live births, and it is one of the most commonly detected anomalies on prenatal ultrasound. MCDK has been shown to follow a benign course with relatively few sequelae and therefore should be managed conservatively. Currently, the key clinical questions revolve around the detection of anomalies in the contralateral kidney and follow-up imaging. The recent literature suggests that very limited radiographic evaluation of the MCDK is needed. The use of voiding cystourethrogram or nuclear medicine renal scans should be directed by any abnormalities on renal ultrasound or the development of urinary tract infections.

High recurrence rate at 5-year followup in children after upper urinary tract stone surgery.

PURPOSE: Pediatric urolithiasis has been treated with shock wave lithotripsy, ureteroscopy and percutaneous nephrolithotomy with high success rates during short-term followup. We studied our success rate and modifiable risk factors in patients with at least 5 years of followup postoperatively. MATERIALS AND METHODS: Retrospective chart review was performed for patients younger than 18 years who underwent upper tract stone surgery between 1999 and 2007, were stone-free afterward and had at least 5 years of followup. Recurrence rate, and anatomical and metabolic abnormalities were assessed. RESULTS: Of 60 eligible children 30 (33 kidneys) had at least 5 years of followup. Average patient age at surgery was 10 years, 17 patients were female and 20 kidneys had anatomical abnormalities. Overall recurrence rate at 5 years was 55% (95% CI 38%-70%). Ureteral stones had a lower recurrence rate than renal stones (5 of 19 and 13 of 14, respectively, p <0.001). Patients with abnormal anatomy had a 65% (95% CI 43%-82%) chance of recurrence within 5 years vs 38% (95% CI 18%-65%) in those with normal anatomy (p = 0.17). Of the 18 recurrences 10 required a second operation, 7 demonstrated abnormal anatomy and 14 involved calcium based stones. A 24-hour urine test in 13 children revealed 10 with hypercalciuria and 11 with hypocitraturia, with 9 patients exhibiting both conditions. CONCLUSIONS: We found a high recurrence rate in children with stones requiring surgical intervention, particularly those with abnormal anatomy. This finding should be confirmed in a larger multicenter study of recurrence rates. In the meantime our results suggest a need for aggressive diagnosis and treatment of metabolic abnormalities.

Bowel bladder dysfunction in control children in a pediatric urology office.

INTRODUCTION: Bowel bladder dysfunction (BBD) is common in children. Risk factors for BBD include age, gender, obesity, and behavioral issues such as ADHD. We investigated the modified Swedish Bowel-Bladder questionnaire as a sensitive indicator of BBD in healthy children. OBJECTIVES: We tested the usefulness of the Swedish Bowel-Bladder Questionnaire (BBQ) as an indicator of BBD in children not complaining of bowel/bladder dysfunction at the time of their visit to a pediatric urologist. Our secondary aim was to identify correlations between BBQ scores and risk factors such as gender, BMI, and ADHD. STUDY DESIGN: All families in our Pediatric Urology practice with patients >30 months old who were reportedly toilet trained were provided the Swedish BBQ. Total score as well as sub-scores for storage, emptying, and constipation were prospectively collected. Presenting diagnosis, gender, BMI, and ADHD history were collected. BBQ scores for patients with voiding dysfunction were compared to controls: a) those with genital problems (e.g. hydrocele/undescended testes), b) those with CAKUT (congenital anomalies of the kidneys and urinary tract). BBQ scores were analyzed as a continuous variable vs the potential risk factors (ADHD, obesity, age, and gender) using univariable/multivariable regression analysis. RESULTS: The median BBQ score for the 328 control patients (95 CAKUT and 233 genital) was 2.25 with an IQR: 1 to 6. In contrast, the median BBQ was higher for those with possible voiding dysfunction; n = 282; 9 with an IQR: 5 to 15). Total BBQ score exceeded 6 in 16% (52/328) of control patients. On multivariable analysis, age-adjusted total BBQ scores increased with ADHD in our controls (p = 0.03) but were unaffected by gender or BMI. On multivariable analysis of the voiding dysfunction group, total BBQ scores similarly decreased with age (p < 0.001) and increased with ADHD (p < 0.001) and were affected by gender (p = 0.024). BMI percentile had no significant effect in either cohort. DISCUSSION AND CONCLUSION: The Swedish BBQ was used in a U.S population and demonstrated trends towards increased voiding dysfunction associated with younger age, female gender, and ADHD. We learned that voiding dysfunction in children with ADHD is not associated with constipation and improves over time. Additionally, 16% of children with genital or urinary abnormalities and no voiding complaints have noticeable BBD uncovered by the BBQ. Hence, we conclude that the Swedish BBQ is a sensitive indicator of BBD even in children not complaining of those problems.

Revisiting Postoperative Pediatric Urology Opioid Prescriptions.

OBJECTIVE: To measure our opioid prescription rate, determine if our rate has decreased since 2019, and identify areas for future interventions to further decrease our opioid prescription rate. METHODS: We retrospectively reviewed all pediatric urology patients (age ..±18 years) who underwent a procedure between October 1, 2020 and October 22, 2021. We collected data on opioid prescribing, age, sex, surgeon, procedure, ethnicity, and race. We grouped procedures into 6 categories: circumcision, cystoscopy with the removal of foreign body/stone/stent, scrotal surgery, hypospadias repair/penile surgery, pyeloplasty/ureteral reimplant, and others. RESULTS: We analyzed 821 operative cases. Only 2.2% (18/821) of discharges included an opioid prescription. The prescription rate of 1 pediatric urologist was 4.6% (17/369), which was higher than the other 2 practitioners... (0.40%, 1/250%, and 0%, 0/202) (P.ß<.ß.001). The median age of patients who received an opioid prescription was older than patients without an opioid prescription (16.5 vs.ß5.0 years, P.ß<.ß.001). Surgery performed in an inpatient setting was more likely to result in an opioid prescription (9.7%, 3/31) than in the outpatient setting (1.9%, 15/790) (P.ß=.ß.03). No adverse effects of reduced opioid usage were noted. CONCLUSION: From October 2020 to October 2021, our institution had an opioid prescription rate of 2.2%. This represented a decrease from our previously reported rate of 8% in 2019. At the same time, we found no significant pain issues in our post-operative patients. Seventeen out of 18 prescriptions were written under 1 provider. Though heightened awareness has made a difference, targeted feedback is needed if we wish to reduce opioid usage further.

Failure to Attend Urology Appointments: A Retrospective Analysis of a Single Urban Academic Practice.

INTRODUCTION: We sought to examine why patients miss appointments in a large academic urology practice. METHODS: We conducted a retrospective analysis of 83,983 patient appointments in our faculty urology group between May 1, 2017 and December 1, 2020. Appointment data from 17 providers were included. Data were collected on diagnosis, age, gender, insurance type, nonattendance history, lead time between scheduling and appointment, clinic location and outpatient procedures vs general office visit or telehealth visit. RESULTS: A total of 7,592 (9.0%) appointments were missed. Patients seen for oncologic diagnosis had the lowest missed appointment rate (4.5%), as compared with benign urology (9.6%) and pediatrics (13.0%). Previous nonattendance history within the last year was associated with nonattendance again (OR 2.47, 95% CI 2.29-2.66). Patients with Medicaid had the highest rate of missed appointments (17.2%; OR 2.16, 95% CI 2.02-2.32). Increased lead time between appointments increased the odds of nonattendance (OR 1.018/week, CI 1.016-1.020). Patients undergoing procedures had the lowest nonattendance rate (3.4%), compared with both new (11.4%) and followup (10.5%) visits, while both telephone (2.9%; OR 0.41, 95% CI 0.32-0.53) and video (2.8%; OR 0.37, 95% CI 0.20-0.71) visits had lower rates of nonattendance when compared to in-person visits. CONCLUSIONS: We found a nonattendance rate of 9% in our practice. Those patients with oncologic diagnoses and those having procedures or telemedicine visits had the lowest rates. Those who have missed an appointment in the past are at the highest risk nonattendance and should be targeted to improve patient health as well as practice efficiency.

24-Hour urine collection for first time pediatric stone formers: Is it worth it?

INTRODUCTION/OBJECTIVE: 24-h urine collections are recommended for motivated first-time stone formers. Given that children have a lifetime potential for recurrences, metabolic work-up has been recommended. 24-hour urine collections can be problematic, especially in children. We sought to study the benefits of 24-h urine collections in children with stones. STUDY DESIGN: We performed a single center, retrospective chart review of the most recent pediatric nephrolithiasis patients under age 18 at our center who supplied their first 24-h urine collection. We assessed whether 24-h urine results led to a change in management and if those patients were adherent to the recommendations. RESULTS: Seventy pediatric nephrolithiasis patients who had 24-h urine collection were reviewed. Recommendations other than standard dietary and fluid intake changes were made in 8/70 (11%). A low citrate/calcium ratio (327 vs. 525, p < 0.03) and whether the test was ordered by nephrology vs. urology (26% vs. 2%, p < 0.003) were predictive of an additional recommendation. Of the 8 patients who had changes recommended only 1/8 completed a repeat 24-h urine collection, 3/8 never returned for followed up and 2/8 stopped the medicines prior to follow up. There was no difference in early stone recurrence rates, 55% of the studies were incorrectly collected, and total costs are estimated at $9800. DISCUSSION: Our study aimed to evaluate the impact and value of 24-h urine collection in first time pediatric stone formers. We found that 24-h urine collections altered management from standard dietary recommendations in only 11% of cases. These collections were fraught with challenges - 55% of our samples appeared to be incorrectly collected, there was at least one abnormality noted in 100% of collections, these tests are expensive, and patients were poorly compliant with recommendations based on test results. Additionally, changes made based on the 24-h urine results seemed to vary depending on who evaluated the test results. Among cases in which changes were made, nephrologists made alterations at a far greater rate than urologists did. We do acknowledge there are several limitations to our study. First, this is a retrospective chart review. Second, for the urology patients, we were only able to review patient records that were available due to a transition from one electronic medical record to another, resulting in a loss of some earlier patient records. We highly doubt that those records we could not review were significantly different than those we did review. Third, this is a single center design and includes the practice patterns of the providers here. We acknowledge that our local practice patterns may or may not be reflective of national practice patterns, however, most clinicians are likely faced with similar interpretation issues and poor rates of compliance and could benefit from guidelines. CONCLUSION: 24-h urine collection for first time pediatric stone formers is expensive, difficult to accomplish and infrequently leads to treatment changes. Our data suggest it adds little for most children with stones and may be better reserved for those children with recurrent stone disease.

Individualized care for patients with intersex (differences of sex development): part 4/5.Considering the Ifs, Whens, and Whats regarding sexual-reproductive system surgery.

Issues and concerns regarding surgery of the sexual-reproductive anatomy during infancy and early childhood are discussed using four actual examples. A case of a 46, XX infant with 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) with atypical (ambiguous) genitalia is discussed regarding timing and potential harms and benefits of surgery. We present the perspective of balancing the child's rights to bodily autonomy and right to an open future versus parents' decision making authority regarding what they perceive as their child's future best interests. The second case is a newborn with complete androgen insensitivity syndrome and we discuss the harms, benefits and timing of gonadectomy. The third case examines the physical and psychological impact of penile shaft hypospadias, raising the question of whether surgery is justified to prevent what may or may not be considered a permanent disability. The fourth case involves an adult woman with classic CAH, born with a urogenital sinus and clitoromegaly, who never had genital surgery and is now requesting vaginoplasty, but not clitoral reduction. The primary message of this article, as the previous articles in this series, is to encourage patient-family centered care that individualizes treatment guided by shared decision making.

Variation in Urinary Stone Parameters Throughout the Day and the Effect of Increased Fluid and Citrate Supplementation.

Background: Because 24-hour urine collections are cumbersome, many studies have evaluated the use of spot urine samples as a substitute, mostly finding poor concordance between the two. Daily variation in stone parameters probably contributes to the lack of concordance, but specific variation in various stone parameters is not well delineated. The variations likely lead to peaks and troughs, which can increase the risk of stone formation. Methods: We prospectively recruited 20 nonstone-forming patients, recording their total fluid intake over 24 hours and collecting voids at first morning, 9 to 10 A.M., 1 to 2 P.M., and 4 to 5 P.M. for evaluation of pH, specific gravity, calcium, citrate, and creatinine. Participants were then asked to double their fluid intake and take a daily True Lemon supplement over the course of the next 3 days. Urine was recollected postintervention. Results: Baseline [citrate]/[creatinine] increased throughout the day such that the 5 P.M. level was significantly higher compared with first void (0.58 vs 0.42, p = 0.027); [calcium]/[creatinine] daily variation was not statistically significant, but showed a distinct pattern that was present in both sets of collections. Daily [calcium]/[citrate] variation was significantly (p = 0.004) and consistently highest in the early morning on both day 1 (0.43) and day 4 (0.45). There was no significant variation in specific gravity and pH. Increasing fluid intake and citrate supplementation increase the daily variation in pH and [citrate]/[creatinine], but did not increase the values compared with their respective preintervention void times. There was also no detectable postintervention effect on [Ca]/[creatinine] or specific gravity. Conclusions: Urinary citrate concentration follows a circadian pattern, while urinary calcium has a diurnal excretion pattern. [Calcium]:[citrate] is highest in the early morning, indicating a high-risk time of day for stone formation. Spot urine samples identify a key time of day, which 24-hour urine collections may miss, for clinical monitoring.

Cost-benefit analysis of scrotal ultrasound in treatment of adolescents with varicocele.

PURPOSE: Varicoceles are a major cause of male factor infertility, although management of adolescent varicoceles is controversial. Most clinicians advocate repair if there is a persistent testicular size discrepancy of greater than 20%. Using previously published data, we performed a cost-benefit analysis of testicular ultrasound vs orchidometry to evaluate for this size difference. MATERIALS AND METHODS: We performed a PubMed search using the terms "adolescent varicocele," "ultrasound and varicocele," and "testis size and varicocele." Using the data from the relevant studies and Medicare reimbursement data from our region, we determined the cost of missing a persistent testicular size difference of greater than 20%. RESULTS: Approximately 25% of adolescents with varicocele have a persistent size discrepancy of greater than 20%. Approximately 40% of this group would be identified as having a size discrepancy with conventional orchidometry. The annual cost of ultrasound for every adolescent male with a varicocele would be $364 million if the imaging were done in an office based setting. If the testing were done at a hospital, the annual cost would be $795 million. The cost per case of missed persistent size discrepancy spanning 3 years is approximately $5,597 for office ultrasound and $12,226 for hospital ultrasound. CONCLUSIONS: There is limited evidence that adolescent varicocele repair improves paternity in adulthood. In an era of increasing health care costs the expense of ultrasound to evaluate for size discrepancy is significant and should be thoughtfully evaluated.

Scribes in an ambulatory urology practice: patient and physician satisfaction.

PURPOSE: The increasing use of electronic medical records during the clinical encounter brings not only benefits but also barriers that may affect the doctor-patient relationship and increase the work burden of the physician. We evaluated whether the use of an electronic medical record scribe in an academic urology program would ameliorate these problems. MATERIALS AND METHODS: We randomly assigned electronic medical record scribes to the office hours of 5 academic urologists, and using surveys we evaluated patient and physician acceptance and satisfaction. RESULTS: Patients were accepting of an electronic medical record scribe and satisfaction rates were high (93% vs 87% in the absence of a scribe, p = 0.36). Patients were comfortable disclosing urological information in the presence of the scribe. Physicians were dramatically more satisfied with office hours when a scribe was present (69% vs 19%, p <0.001). We were unable to determine whether the presence of a scribe improves productivity. CONCLUSIONS: Electronic medical record scribes in a urology practice may be a practical solution to provide documentation while maintaining or improving the doctor-patient relationship because they increase physician satisfaction and do not detract from patient satisfaction.

Tonsillectomy does not improve bedwetting: results of a prospective controlled trial.

PURPOSE: Sleep disordered breathing caused by tonsillar hypertrophy has been implicated as a cause of primary and secondary nocturnal enuresis in children. We prospectively studied the preoperative and postoperative rates of nocturnal and daytime incontinence in a group of children with tonsillar hypertrophy undergoing tonsillectomy compared to a matched control group undergoing surgery unrelated to the airway or urinary tract. MATERIALS AND METHODS: A total of 326 toilet trained children 3 to 15 years old were included, with 257 in the tonsillectomy group and 69 in the control group. Severity of tonsillar hypertrophy was graded preoperatively on a scale of 1 to 4. A voiding questionnaire regarding number of bedwetting and daytime incontinence episodes per week, voids per day, bowel movements per week, secondary or primary enuresis and family history was completed by parents preoperatively, and at 3 and 6 months postoperatively. RESULTS: Preoperatively the respective rates of nocturnal enuresis and daytime incontinence were 33% and 17% in the tonsillectomy group (p=0.89), and 35% and 14% in the control group (p=0.3). The respective cure rates for bedwetting at 3 and 6 months postoperatively were 40% and 50% in the tonsillectomy group (p=0.60), and 35% and 48% in the control group (p=0.61). Similarly no difference was seen in improvement or cure of daytime incontinence at 3 and 6 months postoperatively. CONCLUSIONS: We found no association between tonsillar hypertrophy and urinary incontinence before or after tonsillectomy.

Gender identity: A psychosocial primer for providing care to patients with a disorder/difference of sex development and their families [individualized care for patients with intersex (Disorders/differences of sex development): Part 2].

INTRODUCTION/BACKGROUND: Many parents of infants born with a DSD describe the process of initial sex assignment at birth as highly stressful. Parents of children with a DSD also note high distress when their children engage in behaviors that are not considered typical for their gender. OBJECTIVE: The goal of this article is to provide members of the health care team a brief overview of psychosocial facets of gender and gender identity particularly relevant to DSD for the purposes of enhancing shared decision-making and optimizing support for individuals with a DSD and their families. DISCUSSION: Gender identity is a multidimensional construct involving related but distinct concepts such as gender typicality, gender contentedness and felt pressure for gender differentiation, and can be assessed via standardized measures. Gender dysphoria is associated with poor psychological adjustment, and is mitigated by family and peer support. Family influences on gender identity include parental modeling of gender behavior and family composition (e.g., same-sex children vs both sons and daughters in a family). Cultural factors that may influence sex assignment include societal views on gender, and gender-related differential resource allocation within a society. In addition, religious beliefs and the presence of a "third-sex" category within a culture may also influence parental gender ideology. CLINICAL APPLICATION: Health care providers who work with patients with a DSD must have a strong grasp on the construct of gender identity, and must be able to clearly and consistently communicate with patients and families about gender beliefs in order to optimize family support and gender-related decisions.

Readability Metrics of Provider Postoperative Handouts in Urology.

OBJECTIVE: To examine the readability of postoperative urology handouts and assess for areas of improvement. We hypothesize that the majority of provider handouts exceed the National Institutes of Health recommendation of writing at a sixth-grade reading level. METHODS: We reviewed 238 postoperative patient handouts in the public domain representing United States academic and private practices. All handouts were categorized and re-formatted into text-only using Microsoft Word. A median reading grade was calculated using the Readability.io web application using Flesch-Kincaid Grade Level, Gunning Fog index, Coleman-Liau index, Simple Measure of Gobbledygook, and Automated-Reading Index. Word count was also assessed. RESULTS: Provider handouts were written at a median 9.3 grade reading level (range 5.8-14, IQR 8.45-10). A total of 15 (6.8%) handouts were written at a sixth-grade reading level, with only 1 (0.4%) handout written below the target. Six (2.7%) handouts were written at college-level. There were no significant differences between different subspecialties. Median word count was 509 (range 90-3796, IQR 361-738). Although a high word count may make it more difficult for patients to follow suggestions, the readability of each handout did not correlate with word count. CONCLUSIONS: Our data show that over 93% of analyzed handouts failed to meet National Institutes of Health recommendations for grade level. Longer word counts did not correlate with higher reading levels. It will be important to assess patient satisfaction with handouts and to correlate the complexity of postoperative handouts with outcome, such as unplanned phone calls and unscheduled visits.

Robot set-up time in urologic surgery: an opportunity for quality improvement.

INTRODUCTION: Robotic-assisted techniques are widespread in urology. However, prolonged preparation time for robotic cases hinders operating room (OR) efficiency and frustrates robotic surgeons. Pre-operative times are an opportunity for quality improvement (QI) and enhancing OR throughput. We have previously shown that pre-operative times in robotic cases are highly variable and that increasing patient complexity was associated with longer times. Our objective was to characterize set-up times in robotic urology cases and to determine whether prolongation was due to robot set-up, in particular. MATERIALS AND METHODS: Patients undergoing robotic-assisted urology procedures at our academic institution had routine peri-operative collection of demographic data and OR time stamps. Following IRB approval, we retrospectively reviewed set-up times from an OR database. Multivariable analysis was used to assess the influence of independent patient variables-gender (M/F), smoking history, age, BMI, American Society of Anesthesiologists (ASA) Physical Status Classification, and Charlson Comorbidity Index (CCI)-on robot set-up times. Institutional factors including procedure, surgeon, and case year were also assessed. RESULTS: A total of 808 patients undergoing 816 robotic-assisted procedures from 2013 to 2018 met inclusion criteria. Robot set-up times varied only by gender (F > M) but not by general patient complexity. Age, BMI, smoking status, ASA, and CCI did not play a role in prolonging robot set-up times. There was marked variability of robot set-up times, even within procedure type. Robot set-up times generally improved over time for a given surgeon. CONCLUSIONS: Robot set-up time is not affected by patient complexity, in contrast to pre-operative time. It is affected by procedure type and does improve with experience. There is wide variability of robot set-up times and this is an important target for surgical QI.