Search

Objective This study identifies trajectories of parent depressive symptoms after having a child born with genital atypia due to a disorder/difference of sex development (DSD) or congenital adrenal hyperplasia (CAH) and across the first year postgenitoplasty (for parents who opted for surgery) or postbaseline (for parents who elected against surgery for their child). Hypotheses for four trajectory classes were guided by parent distress patterns previously identified among other medical conditions. Methods Participants included 70 mothers and 50 fathers of 71 children diagnosed with a DSD or CAH with reported moderate to high genital atypia. Parents were recruited from 11 US DSD specialty clinics within 2 years of the child’s birth and prior to genitoplasty. A growth mixture model (GMM) was conducted to identify classes of parent depressive symptoms over time. Results The best fitting model was a five-class linear GMM with freely estimated intercept variance. The classes identified were termed “Resilient,” “Recovery,” “Chronic,” “Escalating,” and “Elevated Partial Recovery.” Four classes have previously been identified for other pediatric illnesses; however, a fifth class was also identified. The majority of parents were classified in the “Resilient” class (67.6%). Conclusions This study provides new knowledge about the trajectories of depressive symptoms for parents of children with DSD. Future studies are needed to identify developmental, medical, or familial predictors of these trajectories.

The medical terminology applied to differences/disorders of sex development has been viewed negatively by some affected individuals. A clinical population of patients with differences/disorders of sex development and their caregivers were surveyed regarding current nomenclature, hypothesizing that those unaffiliated with support groups would have more favorable attitudes.We recruited English and Spanish speaking patients 13 years old or older with differences/disorders of sex development and their caregivers at 5 national tertiary care clinics from July 2016 to December 2018. No diagnoses were excluded. Participants completed a survey rating terminology commonly applied to differences/disorders of sex development. Responses were compared between subgroups, including members vs nonmembers of a support group.Of 185 potential participants approached 133 completed the survey (72% response rate). Congenital adrenal hyperplasia (33%) was the most common diagnosis. "Variation of sex development" was the most liked term (37%) but was not liked more significantly than "disorders of sex development" (27%, p=0.16). No term was liked by a majority of respondents. "Disorders of sex development" (37%) and "intersex" (53%) were the only terms most frequently viewed unfavorably. Support group members were significantly more likely to dislike the term "intersex" (p=0.02) and to like "variation of sex development" (p=0.02).A clinical population of patients and their caregivers had generally neutral attitudes toward nomenclature applied to differences/disorders of sex development. Members of a support group had clearer terminology preferences. "Variation of sex development" was the most liked term, and "disorders of sex development" and "intersex" were the most disliked. No term was liked by most respondents, and no clear alternative to the present nomenclature was identified.

Purpose:Controversy remains within the pediatric urology community regarding adequate duration of followup after hypospadias repair. Some have suggested that minimal long-term followup is necessary...

IntroductionOsteopenia and osteoporosis have been reported in adults with Complete Androgen Insensitivity Syndrome (CAIS). Little is known about changes in bone mineral density (BMD) in adolescents with CAIS and whether it is affected by early gonadectomy. Body composition data have not been reported.MethodsSingle-center, retrospective study of CAIS adolescents who underwent dual-energy x-ray absorptiometry (DXA) (Hologic, Horizon A). Body composition is presented as lean and fat mass indices (LMI, FMI). Z-scores for lumbar spine areal BMD (LBMD), total body less head (TBLH), bone mineral content (BMC), LMI, and FMI were calculated using female normative data. Results are expressed as median and min, max.ResultsSix females with genetically confirmed CAIS were identified—one with intact gonads and five with history of gonadectomy at 2–11 months. In the subject with intact gonads, LBMD-Z and TBLH BMC-Z were −1.56 and −1.26, respectively, at age 16 years. Among those with gonadectomy, LBMD-Z was −1.8 (−3.59 to 0.49) at age 15.6 years (12–16.8) and decreased in all three subjects who had longitudinal follow-up despite hormone replacement therapy (HRT). Adherence to HRT was intermittent. LMI-Z and FMI-Z were 0.1 (−1.39 to 0.7) and 1.0 (0.22 to 1.49), respectively.ConclusionsThese limited data indicate that adolescents with CAIS have bone mass deficit. Further studies are needed to understand the extent of BMD abnormalities and the effect of gonadectomy, especially early in childhood, and to establish the optimal HRT regimen for bone accrual. Data on lean mass are reassuring.

Parents of children with Disorders of Sex Development (DSD) report significant psychological distress, including posttraumatic stress symptoms (PTSS), with mothers consistently reporting higher rates of psychological distress than fathers. However, psychological factors contributing to PTSS in both parents are not well understood. The present study sought to fill this gap in knowledge by examining PTSS and illness uncertainty, a known predictor of psychological distress, in parents of children recently diagnosed with DSD. Participants were 52 mothers (M(age) = 32.55 years, SD = 5.08) and 41 fathers (M(age) = 35.53 years, SD = 6.78) of 53 infants (M(age) = 9.09 months, SD = 6.19) with DSD and associated atypical genital development. Participants were recruited as part of a larger, multisite study assessing parents’ psychosocial response to their child’s diagnosis of DSD. Parents completed measures of illness uncertainty and PTSS. Mothers reported significantly greater levels of PTSS, but not illness uncertainty, than fathers, and were more likely than fathers to report clinical levels of PTSS (21.2% compared to 7.3%). Hierarchical regression revealed that parent sex, undiagnosed or unclassified DSD status, and illness uncertainty were each associated with PTSS. The overall model accounted for 23.5% of the variance associated with PTSS. Interventions targeting illness uncertainty may be beneficial for parents of children with newly diagnosed DSD.

An identifiable genetic malformation or predisposition syndrome is present in 18% of Wilms tumor cases. Given this, children with conditions associated with a greater than 1% risk of developing Wilms tumor are recommended to have regular surveillance imaging with renal ultrasound until age 7. Seven years is the recommended screening duration because 95% of cases will occur by this age. We present a case of a child with isolated hemihypertrophy, associated with 5% risk of Wilms tumor, who presented with a tumor after the recommended screening, at age 9, brining into question the age cutoffs currently used.

The risk factors for future infertility in adolescents with varicocele are controversial, and little is known about the association between hormone levels and semen parameters. Semen analysis is likely the closest marker of fertility but may be difficult to obtain in some boys secondary to personal, familial or religious reasons. Identifying other clinical surrogates for abnormal semen parameters may offer an alternative for assessing varicocele severity in these boys. We hypothesized that hormone levels and total testicular volume are predictive of abnormal total motile sperm count.We retrospectively reviewed Tanner 5 boys with palpable left varicoceles who underwent a semen analysis and had serum hormone levels tested (luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-müllerian hormone and/or total testosterone) within a 6-month period. Total testicular volume was also calculated. Abnormal total motile sperm count was defined as9 million sperm per ejaculate.A total of 78 boys (median age 17.2 years, IQR 16.5-18.0) were included. Luteinizing hormone, anti-müllerian hormone and total testosterone were not correlated with any semen analysis parameter. There was a negative correlation between follicle-stimulating hormone and total motile sperm count (ρ -0.35, p=0.004) and positive correlation between inhibin B and total motile sperm count (ρ 0.50, p0.001). Total testicular volume was significantly positively correlated with total motile sperm count (ρ 0.35, p=0.01). ROC analyses revealed an optimal follicle-stimulating hormone cutoff of 2.9, an optimal inhibin B cutoff of 204 and an optimal total testicular volume cutoff of 34.4 cc to predict abnormal total motile sperm count.Total motile sperm count is inversely associated with follicle-stimulating hormone levels, and directly associated with inhibin B levels and total testicular volume. Optimized cutoffs for serum follicle-stimulating hormone, inhibin B and total testicular volume may prove to be reasonable surrogates for total motile sperm count in boys who defer semen analysis for personal or religious/cultural reasons.

Summary Introduction Differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. A phenotype of severe genital atypia in patients raised as male is a relatively rare occurrence and standards for management are lacking. Decision making for early surgical planning in these rare cases includes, but is not limited to, degree of atypia, location of testes, and presence of Mϋllerian remnants. In this study we describe surgical approaches and short-term outcomes for masculinizing genitoplasty in moderate to severe genital atypia in young patients raised male, for whom parents opted for early surgery. Methods This NIH-sponsored study is an ongoing, observational, multicenter investigation assessing medical, surgical and psychological outcomes in children and their parents affected by atypical genitalia due to DSD. Participants were prospectively enrolled from 12 children's hospitals across the United States that specialize in DSD care. Criteria for child enrollment were a Quigley score of 3–6 in those with a 46, XY or 45,X/46, XY chromosome complement, age Results Of the 31 participants, 30 underwent hypospadias repair and 1 patient did not undergo a genitoplasty procedure. The majority of participants (22) received a staged hypospadias repair. Seventeen complications were identified in 12 of the 31 children (41%) at 12 months of follow up. Glans dehiscence and urethrocutaneous fistula were the most common complications. Orchiopexy was performed in 14 (44%) and streak gonads were removed in 4 (13%) participants. Both parents and surgeons reported improved cosmesis after surgery when compared to baseline. Conclusion Genitoplasty was chosen by parents for the majority of children eligible for study. No single surgical approach for masculinizing moderate to severe genital ambiguity in young patients with 46, XY or 45,X/46, XY DSD was adopted by all surgeons. Complications occurred in 41% of those who underwent genitoplasty for severe hypospadias. Overall, appearance of the genitals, as determined by parents and surgeons, improved following genitoplasty. Outcomes of early genitoplasty are needed to guide families when making decisions about such procedures for their young children. Download : Download high-res image (286KB) Download : Download full-size image Summary Figure . River plot comparing Likert cosmesis score over time for mothers, fathers, and surgeons. Panel A includes all patients in the cohort.

INTRODUCTION AND OBJECTIVE:There are ongoing efforts to adopt opioid-sparing analgesic regimens to control post-operative pain in all areas of Urology. Concerns regarding post-operative bleeding ha...

The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Genitourinary tract abnormalities have been noted to be present in up to 30-40% of patients. At our institution, an internationally recognized, comprehensive, and multidisciplinary 22q11.2DS care center has been providing care to these children. We sought to report on the incidence of genitourinary tract anomalies in this large cohort and, therefore, retrospectively reviewed all patients who underwent a complete evaluation from 1992 to March 2017. We identified all children with any genital or urinary tract anomaly. For all children with a diagnosis of hydronephrosis, the underlying etiology was determined, when possible. Overall, 1,073 of 1,267 children with 22q11.2DS underwent renal evaluations at our institution. Hundered Sixty-Two (15.1%) children had structural abnormalities of their kidneys/urinary tracts. The majority of children with hydronephrosis (63%) had isolated upper tract dilation without any additional diagnoses. Boys were significantly more likely to be diagnosed with a genital abnormality than girls (7.7 vs. 0.5%, p < 0.001). Of the 649 boys in the entire cohort, 24 (3.7%) had cryptorchidism and 24 (3.7%) had hypospadias, which was noted to be mild in all except one boy. Overall, findings of hydronephrosis, unilateral renal agenesis, and multicystic dysplastic kidney occur at higher rates than expected in the general population. Given these findings, in addition to routine physical examination, we believe that all patients with 22q11.2DS warrant screening RBUS at time of diagnosis.

Purpose Little is known about the phenotypes, diagnoses, and sex of rearing of infants with atypical genital development in the United States. As part of a multicenter study of these infants, we have provided a baseline report from US difference/disorder of sex development clinics describing the diagnoses, anatomic features, and sex of rearing. We also determined whether consensus guidelines are followed for sex designation in the United States. Methods Eligible participants had moderate-to-severe genital atypia, were aged

Background/Aims: Parents of children born with disorders of sex development (DSD) often experience anxiety, but risk factors, including parental perception of the severity of their child’s DSD, have not been examined. We hypothesized that severity of illness (SOI) ratings would relate to parental anxiety, and would be higher for parents of children with a potentially life-threatening DSD (e.g., 21-hydroxylase deficiency). Methods: Eighty-nine parents (Mage = 33.0, 56.2% mothers) of 51 children (Mage in months = 8.7) with a DSD including ambiguous genitalia were recruited from 12 specialized DSD clinics. Parents completed questionnaires prior to genitoplasty, 6 months post-genitoplasty, and 12 months post-genitoplasty (if completed). Data were analyzed with linear mixed modeling. Results: Parental anxiety decreased over time, χ2(1) = 10.14, p < 0.01. A positive relationship between SOI and anxiety was found, with SOI being a strong predictor of anxiety (b = 0.53, p < 0.01; χ2[1] = 5.33, p < 0.05). An SOI by time interaction indicated SOI had an increasing effect on anxiety over time, b = 0.06, p < 0.05; χ2(1) = 6.30, p < 0.05. There was no diagnosis by SOI interaction. Conclusion: Parental anxiety decreased over time, but those with higher SOI ratings reported greater initial anxiety followed by slower resolution over time. Underlying etiology of DSD had no effect on the relationship between SOI and anxiety.

Summary Introduction Widespread utilization of telemedicine in our practice to date has been limited to the evaluation of certain post-surgical patients. The COVID-19 pandemic acutely stressed our established system and required us to enhance our utilization of telemedicine. We hypothesized that expansion of telemedicine to new and follow up patient visits for pediatric urology could be done effectively in a way that satisfied patient and parental expectations. Materials and methods Using a pre-COVID-19 established telemedicine program based in our electronic medical record (EMR), patients and providers transitioned to primarily virtual visits when clinically appropriate. Guidelines were formulated to direct patient scheduling, provider and staff education was provided, including a process map designed for multiple providers to complete video visits (VV), and the EMR was redesigned to incorporate telehealth terminology. The number of VV per provider was recorded using the electronic medical record, and patient reported outcomes (PRO) were measured using a standardized questionnaire. Results A total of 631 VV met inclusion criteria during the period of May 2018–April 2020. This included 334 follow up, 172 new, and 125 postoperative visits. The median age of patients at time of visit was 7 years (IQR 2–12 years), median visit time was 20 min (IQR 15–30 min), and the median travel distance saved by performing a VV was 12.2 miles (IQR 6.3–26.8 miles). Diagnoses were varied and included the entire breadth of a standard pediatric urology practice. The PRO questionnaire was completed for 325 of those patient visits. Families reported a high overall satisfaction with the video visits (median score of 10 out of 10) and felt that the visit met their child's medical needs. 90% stated that they would strongly recommend a telehealth visit to other families. Patients and parents reported benefits of VV including decreased travel costs and less time taken off from work and school. Conclusion The EMR enabled nimble redirection of clinical care in the setting of a global pandemic. The enhanced use of telemedicine has proved to be an alternative method to provide care for pediatric urology patients. Families indicate a high degree of satisfaction with this technology in addition to significant time and cost savings. Telemedicine should remain a key aspect of medical care and expanded from post-operative visits to new patient and follow up visits, even as we return to our normal practices as the pandemic restrictions soften. Download : Download high-res image (855KB) Download : Download full-size image Summary figure . Program map depicting the sequence of a video visit (VV). The process begins with our scheduling team which provides the necessary information to the family and ensures that they can be scheduled properly. The family is encouraged to conduct the visit in a quiet place with at least one parent and the child present. Relevant records, imaging, and laboratory studies should be uploaded prior to the visit. In addition, pictures and/or videos uploaded by the family prior to the visit can facilitate the examination portion of the visit. VV = video visit; AVS = after visit summary.

We present 2 patients found to have ovotesticular disorder of sexual development (otDSD) in late adolescence. Two 15-year-old phenotypically male patients presented to a large pediatric hospital with different complaints: 1 with concern for testicular rupture after a straddle injury; 1 with gynecomastia. Further workup, including imaging and laboratory tests, was performed before surgical exploration. The first patient had unilateral ovotestis, contralateral testis, and SRY-negative 46,XX karyotype. The second patient with gynecomastia had unilateral ovotestis with hemi-uterus and fallopian tube, contralateral ovarian tissue, and 46,XX/47,XXY Klinefelter mosaic karyotype. Although rare, phenotypically normal male patients may present later with ovotesticular disorder of sexual development.

Results following distal hypospadias repair are favorable. Grouping proximal and distal hypospadias repair artificially increases the perceived success rate of proximal hypospadias. We identified our complication rate of proximal hypospadias repair and hypothesized a higher complication rate for 1-stage repair.We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias from 2007 to 2014. Proximal hypospadias was defined as a urethral meatus location at or more proximal than the penoscrotal junction after penile degloving. We further stratified boys into those with planned 1-stage vs 2-stage repair. Univariate and Cox regression analyses were performed to assess associations with covariates and compare time to the first complication, respectively.A total of 167 boys met study inclusion criteria. Median followup was 31.7 months for 1-stage repair in 86 patients and staged repair in 81. The overall complication rate was 56%. Complications developed in 53 of 86 1-stage (62%) vs 40 of 81 staged (49%) repairs (p = 0.11). The number of unplanned procedures per patient was higher in the 1-stage than in the staged group (0.99 vs 0.69, p = 0.06), as was the number of patients who had at least 2 complications (29 of 86 or 33% vs 13 of 81 or 16%, p = 0.03). Cox regression showed no difference in time to the first complication for staged compared to 1-stage repair (HR 0.77, 95% CI 0.43-1.39).Our 56% complication rate of proximal hypospadias warrants further long-term patient followup. More patients in the 1-stage group experienced at least 2 complications. However, when complications developed, they developed no differently in the 2 groups.

Numerous medications can predispose patients to stone formation. Some induce metabolic changes that alter urine chemistries, such as topiramate, which can cause a mixed renal tubular acidosis. Others or their breakdown products form stones composed of the drugs themselves, like those that are renally excreted and become supersaturated in the urine in a favorable environment.1,2 Like all stones, they can cause obstruction and infection. Here we present a case of ampicillin stone formation in an 11-year-old girl during a pelvic reconstructive procedure, which required ureteral stenting to prevent obstruction from an institutional guideline's perioperative antimicrobial dosing. While there are many reports of amoxicillin and ampicillin crystalluria, there is only one account in the literature of an adult with resultant ureteral obstruction requiring intervention.3, 4, 5 Our case is the first report, to our knowledge, in a child, and highlights the potential for significant crystal formation and if unrecognized, complete urinary obstruction. Since ampicillin is a commonly administered perioperatively, awareness of ampicillin stone formation during surgery is important.

OBJECTIVE: To assess the prevalence of therapy-related kidney outcomes in survivors of Wilms tumor (WT). STUDY DESIGN: This prospective cohort study included survivors of WT who were ≥5 years old and ≥1 year from completing therapy, excluding those with pre-existing hypertension or prior dialysis or kidney transplant. Participants completed 24-hour ambulatory blood pressure monitoring (ABPM). Abnormal blood pressure (BP) was defined as ≥90(th) percentile. Masked hypertension was defined as having normal office BP and abnormal ABPM findings. Urine was analyzed for KIM-1, IL-18, EGF, albumin, and creatinine. Estimated glomerular filtration rate (eGFR) was calculated using the bedside CKiD equation. Recent kidney ultrasounds and echocardiograms were reviewed for contralateral kidney size and left ventricular hypertrophy (LVH), respectively. Clinical follow-up data was collected for approximately 2 years following study enrollment. RESULTS: Thirty-two participants (median age 13.6 [IQR: 10.5-16.3] years; 75% ≥Stage 3 WT) were evaluated at a median of 8.7 years (IQR: 6.5-10.8) post-therapy. Twenty-nine participants underwent unilateral radical nephrectomy, 2 bilateral partial nephrectomy, and 1 radical and contralateral partial nephrectomy. 72% received kidney radiotherapy and 75% received doxorubicin. Recent median eGFR was 95.6 ml/min/1.73m(2) (IQR: 84.6-114.0; 11 (34%) had an eGFR

Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD. PubMed® and Google ScholarTM literature searches were performed of current and past peer-reviewed literature on DSD (intersex) regarding gonadal development and tumor formation/treatment. Relevant reviews and original research articles were examined, including cited references, and a synopsis of the data was generated. DSD patients are at increased risk for the development of testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), including seminoma, non-seminoma, juvenile granulosa cell, gonadoblastoma, and dysgerminoma. Cancer risk factors include Y-chromosomal material and gonadal position, especially for streak gonads. The 46 XX DSD patients [congenital adrenal hyperplasia (CAH)] with no genetic Y-chromosomal material are not at higher risk of cancer. Post-pubertal complete androgen insensitivity syndrome (AIS) patients remain prone to tumor development if the testes remain in the abdomen. Estimates of the risk of GCT in partial AIS for untreated undescended testes may be as high as 50%. The cancer risk of scrotal testes in partial AIS is unknown. CIS occurs almost exclusively in patients with hypovirilization, most notably in AIS. Persistent Mullerian Duct Syndrome (PMDS) confers the usual cancer risk associated with cryptorchidism, but also a possible tumor risk of the Mullerian remnant. Several markers are under investigation for tumor evaluation in the DSD population beyond hCG and AFP (Oct3/4, TSPY, WT-1). The management of patients with DSD is complex and evaluation of tumor risk is aided by advances in genotyping for Y-chromosomal material not evident in traditional karyotyping. More complete genetic screening for DSD patients should increasingly become the standard of care. Developments in pathologic diagnosis will further challenge our traditional understanding of the oncologic management and surveillance of these patients. Future studies utilizing more advanced histologic examination of gonads will improve our understanding of the true incidences of malignancy in this diverse population.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent, chromosome specific, low copy repeat mediated copy number losses of chromosome 22q11. The Children’s Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. METHODS: We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. RESULTS: Most individuals are Caucasian and older than eight years old. The median age at diagnosis was 360 days. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale IQ was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most, but dermatoglyphic patterns of our cohort are similar to normal controls. CONCLUSIONS: This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

Upper pole nephrectomy has been the traditional surgical management of children with poorly functioning upper pole moieties in duplex renal collecting systems having ureteral ectopia and ureterocele. However, ablative surgery confers a risk of functional loss to the remnant moiety due to vasospasm or vascular injury. It was hypothesized that ipsilateral ureteroureterostomy (IUU) is a safe and feasible approach for the management of these patients and that residual function in the obstructed upper pole does not affect surgical outcomes.All patients with duplex systems who underwent IUU between 2010 and 2016 were retrospectively reviewed. Patients were sorted into two groups based on pre-operative imaging: those having10% upper pole moiety function (UPMF) and those having ≥ 10% UPMF. Outcomes assessed were postoperative complications (Clavien-Dindo classification), need for secondary surgery, and radiological outcomes.The study cohort comprised 53 children with ectopia or ureterocele affecting the upper pole in a duplex system, 21 with UPMF10% (median function 0% and median age 1.49 years) and 32 with UPMF ≥ 10% (median function 15% and median age 0.91 years). Median follow-up was 27.4 months and 27.6 months. In both the groups, prenatal hydronephrosis was the most common presentation (57% and 56%, respectively; p = 0.18) followed by urinary tract infection. Mann-Whitney U test comparing the two groups revealed no significant differences in any of the outcomes assessed. No patient required secondary surgery.Ipsilateral ureteroureterostomy is a safe, definitive surgical intervention that preserves the renal architecture in children with duplex collecting systems regardless of upper pole function.

Cryopreservation of testicular tissue with subsequent reimplantation after therapy has the potential to preserve fertility for prepubertal boys with cancer. We present the histology and feasibility of testicular tissue procurement for this novel approach.We performed a prospective cohort study of boys at significant risk for treatment associated gonadotoxicity who were eligible for an experimental research protocol between 2008 and 2011. Open testicular biopsy was performed while the patients were anesthetized for another treatment related procedure. Half of the specimen was reserved for cryopreservation, while the other half was used for research purposes. Semithin sections of the biopsy specimens were evaluated for histological features and compared to age adjusted reference values.A total of 34 boys underwent biopsy between March 2008 and October 2011. Of the patients 29 had solid tumors and 5 underwent hematopoietic stem cell transplantation for benign disease. A total of 27 patients had adequate tissue for histological analysis. Median patient age was 8.7 years (IQR 2.2 to 11.5). All children had either normal (81.5% of patients) or increased (18.5%) numbers of germ cells per tubule for their age. However, 5 of 26 patients (19%) older than 6 months had no evidence of adult dark spermatogonia and 9 of 16 (56%) older than 6 years had no evidence of primary spermatocytes on biopsy, which would be expected based on age norms. These findings are suggestive of abnormal germ cell maturation.The preliminary histological findings of abnormal spermatogenesis maturation in the testes of prepubertal boys with cancer warrants further investigation.

INTRODUCTION: In testicular torsion, ischemia time from pain onset impacts testicular salvage. A tunica albuginea fasciotomy to relieve compartment pressure followed by a tunica vaginalis flap (TVF) may enhance salvage. OBJECTIVE: To define the optimal window of ischemia time during which TVF may be most beneficial to avoid orchiectomy. STUDY DESIGN: A retrospective cohort study of males presenting with testicular torsion at a single tertiary-care institution from January, 2003 to March, 2017. Ischemia time was defined as duration of pain from onset to surgery. Because TVF would be an option to orchiectomy, and it was found that ischemia time was longer in testicles that underwent orchiectomy, matching was performed. Cases of torsion treated with TVF were matched 1:1 with cases treated with orchiectomy on age at surgery, and ischemia time. Outcomes included postoperative viability, defined as palpable testicular tissue with normal consistency, and atrophy, defined as palpable decrease in size relative to contralateral testicle. Sensitivity analyses were performed restricting to the subgroups with postoperative ultrasound, >6 months’ follow-up, and additionally matching for degrees of twist. RESULTS: A total of 182 patients met eligibility criteria, of whom 49, 36, and 97 underwent orchiectomy, TVF, and septopexy alone, respectively. Median follow-up was 2.7 months; 26% of patients had postoperative ultrasound (61% of TVF group). In the orchiectomy, TVF, and septopexy groups, respectively, median ischemia times were 51, 11, and 8 hours, postoperative viability rates were 0, 86, and 95%, and postoperative atrophy rates were 0, 68, and 24%. After matching, 32 patients with TVF were matched to 32 patients who underwent orchiectomy. In the TVF group, postoperative viability occurred in 95% (19/20) vs 67% (8/12) of patients with ischemia times ≤24 and >24 hours, respectively (Summary table). Atrophy occurred in 67% (12/18) vs 83% (10/12) of these same respective patients. Sensitivity analysis by ultrasound and longer follow-up found similar viability results, although atrophy rates were higher. Additional matching for degrees of twist showed lower viability and higher atrophy rates for increasing ischemia times. DISCUSSION: Patients who presented with testicular torsion with ischemia times ≤24 hours and who were being considered for orchiectomy may have benefitted most from TVF, albeit at high risk of atrophy. However, for ischemia times >24 hours, TVF may still have preserved testicular viability in two-thirds of cases. A limitation was short follow-up. CONCLUSION: A TVF was a valid alternative to orchiectomy for torsed testicles, albeit with high testicular atrophy rates.

We present a case of bilateral multifocal Wilms tumor in a nonsyndromic 12-month-old male. Our management approach included 12 weeks of preoperative chemotherapy for maximal tumor shrinkage and, despite the central location of the tumors, successful staged bilateral nephron-sparing surgery. We advocate for a broader application of nephron-sparing surgery in Wilms tumor cases with the goal of preserving renal function without compromising oncologic outcomes.

Summary Introduction Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. Objective The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia. Study design This 11-site, prospective study included children aged ≤2 years, with Prader 3–5 or Quigley 3–6 external genitalia, with no prior genitoplasty and non-urogenital malformations at the time of enrollment. Genital appearance was rated on a 4-point Likert scale. Paired t-tests evaluated differences in cosmesis ratings. Results Out of 27 children, 10 were 46,XY patients with the following diagnoses: gonadal dysgenesis, PAIS or testosterone biosynthetic defect, severe hypospadias and microphallus, who were reared male. Sixteen 46,XX congenital adrenal hyperplasia patients were reared female and one child with sex chromosome mosaicism was reared male. Eleven children had masculinizing genitoplasty for penoscrotal or perineal hypospadias (one-stage, three; two-stage, eight). Among one-stage surgeries, one child had meatal stenosis (minor) and one developed both urinary retention (minor) and urethrocutaneous fistula (major) ( Summary Figure ). Among two-stage surgeries, three children developed a major complication: penoscrotal fistula, glans dehiscence or urethral dehiscence. Among 16 children who had feminizing genitoplasty, vaginoplasty was performed in all, clitoroplasty in nine, external genitoplasty in 13, urethroplasty in four, perineoplasty in five, and total urogenital sinus mobilization in two. Two children had minor complications: one had a UTI, and one had both a mucosal skin tag and vaginal mucosal polyp. Two additional children developed a major complication: vaginal stenosis. Cosmesis scores revealed sustained improvements from 6 months post-genitoplasty, as previously reported, with all scores reported as good or satisfied. Discussion In these preliminary data from a multi-site, observational study, parents and surgeons were equally satisfied with the cosmetic outcomes 12 months after genitoplasty. A small number of patients had major complications in both feminizing and masculinizing surgeries; two-stage hypospadias repair had the most major complications. Long-term follow-up of patients at post-puberty will provide a better assessment of outcomes in this population. Conclusion In this cohort of children with moderate to severe atypical genitalia, preliminary data on both surgical and cosmetic outcomes were presented. Findings from this study, and from following these children in long-term studies, will help guide practitioners in their discussions with families about surgical management. Download : Download high-res image (236KB) Download : Download full-size image Summary Figure . Surgical complications at 12-month postoperative follow-up, n = 27. *Among the six complications in the masculinizing surgery group, one patient developed both urinary retention (minor) and urethrocutaneous fistula (major). ǂAmong the five complications in the feminizing surgery group, one patient had both a mucosal skin tag (minor) and vaginal mucosal polyp (minor).

PURPOSE: We examined the psychological adjustment of parents of children born with moderate to severe genital atypia 12 months after their child underwent genitoplasty. MATERIALS AND METHODS: Parents were recruited longitudinally from a multicenter collaboration of 10 pediatric hospitals with specialty care for children with disorders/differences of sex development and/or congenital adrenal hyperplasia. Parents completed measures of depressive and anxious symptoms, illness uncertainty, quality of life, posttraumatic stress and decisional regret. RESULTS: Compared to levels of distress at baseline (before genitoplasty) and 6 months after genitoplasty, data from 25 mothers and 20 fathers indicated significant improvements in all psychological distress variables. However, a subset of parents continued endorsing clinically relevant distress. Some level of decisional regret was endorsed by 28% of parents, although the specific decision that caused regret was not specified. CONCLUSIONS: Overall the majority of parents were coping well 1 year after their child underwent genitoplasty. Level of decisional regret was related to having a bachelor’s level of education, increased levels of illness uncertainty preoperatively and persistent illness uncertainty at 12 months after genitoplasty but was unrelated to postoperative complications.

Background Infertility is an unfortunate treatment-related consequence for some pediatric malignancies as well as some non-malignant conditions treated with stem cell transplant. Unlike pubertal males, prepubertal males cannot produce semen for cryopreservation. This manuscript reports on the acceptability and safety of a multi-institutional protocol for offering testicular tissue cryopreservation to families of prepubertal male children at highest risk for infertility. Data on decision influences, decision-making control, and emotional state when considering this option are described. Procedure Prepubertal males facing gonadotoxic therapy were offered testicular cryopreservation. Post-biopsy, patients were followed for acute side effects. In addition, parents and patients were asked to complete questionnaires, whether or not they chose to cryopreserve tissue. Results Seventy-four prepubertal male children were approached. Fifty-seven families (77%) consented to the testicular biopsy; 48 of 57 underwent the procedure. There was one post-operative side effect. Parents who agreed to testicular cryopreservation and those that did not felt in control of this decision. Parents who consented to the biopsy and refusers were not deterred by the experimental nature of the protocol. An important decision-making influence was the risk of the biopsy. Conclusion Biopsy and cryopreservation of testicular tissue from prepubertal male children was performed successfully and safely at three institutions. Parents faced with this option at diagnosis can make an informed decision and weigh carefully the risks and benefits. Although asked to make a decision soon after they were given a difficult diagnosis, parents uniformly felt in control of this decision. Pediatr Blood Cancer 2014;61:1673–1678. © 2014 Wiley Periodicals, Inc.

There are few normative data on semen analyses in youths at risk for but not presenting with infertility. Standard practice among infertility specialists includes evaluation of 2 separate semen samples, given the degree of within subject variability. We hypothesized that males transitioning from pediatric to adult care who are at risk for infertility would similarly have this variability.We retrospectively reviewed patients with a history of cryptorchidism or varicocele who submitted 2 semen samples for evaluation of fertility potential. The within subject coefficient of variation and intraclass correlation coefficient were calculated for each semen parameter to evaluate reproducibility and reliability, respectively.A total of 79 subjects were studied. Mean ± SD age was 18.8 ± 1.2 years (range 17.8 to 24.7). The within subject coefficient of variation was high for each semen parameter, ranging from 36% for volume and motility to 82% for total motile count. Intraclass correlation coefficient for a single semen analysis ranged from 0.55 for motility to 0.88 for total count. Intraclass correlation coefficient for total motile count was 0.78 (95% CI 0.67-0.85), consistent with substantial reliability.Although we observed within patient variability of individual semen analysis parameters, overall there was substantial agreement between consecutive semen analyses in this population at risk for infertility, particularly regarding total motile count, which is the most important determinant of fertility from a semen analysis. Therefore, it is possible to appropriately classify some young men based on the result of a single measurement as they transition from pediatric to adult care.

Summary Background The birth of a child with a disorder of sex development (DSD) and atypical genitalia can be traumatizing and isolating for families. Parents of children with DSD are at risk for increased levels of psychological distress, including depression, anxiety, illness uncertainty (IU), post-traumatic stress symptoms (PTSS), and impairments in quality of life (QOL). Our previous report indicated that although the majority of parents of children with atypical genitalia were coping well prior to the child's genitoplasty, approximately 25% of them reported experiencing some type of psychological distress. Objective The current study sought to examine the trajectory of parental psychological distress prior to, and 6 months after their child underwent genitoplasty. Methods Parents were recruited as part of an ongoing, prospective, multi-site study involving 10 pediatric hospitals with specialized care for children with atypical genitalia. Results from 49 parents (27 mothers, 22 fathers) of 28 children (17 female sex of rearing, 11 male sex of rearing) born with atypical genitalia (Prader rating of 3–5 in 46,XX DSD or by a Quigley rating of 3–6 in 46,XY DSD or 45,XO/46,XY) were included in the study. Results There were no significant changes in level of depressive or anxious symptoms or quality of life between baseline and 6-month post-operative follow-up, although mothers continued to report significantly higher levels of depressive symptoms than fathers, and as a group, these parents reported lower QOL than published norms. The level of PTSS significantly decreased for all parents, suggesting that parents may have come through the acute stress phase associated with their child's diagnosis. Finally, while there were no significant changes in IU over the time period, the level of IU for parents of boys actually increased, while parents of girls reported no change (Figure). Conclusion Six months after their child has undergone genitoplasty, the majority of parents report minimal levels of psychological distress. However, a subset of these parents continue to experience significant distress related to their child's diagnosis. Specifically, parents of boys appear to be at increased risk for difficulties, which may be related to either the lack of clinical diagnosis for almost half of these children or the necessity of two-stage surgeries for the majority of them. We will continue collecting data on these families to better understand the trajectory of these adjustment variables. Download : Download high-res image (173KB) Download : Download full-size image Figure . Graphs of significant changes.

International audience; Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation.

Summary Introduction Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. Methods and Materials A systematic literature review was performed on Embase™, PubMed®, and Google Scholar™ for disordersof sex development and infertility. Original research articles and relevant reviews were examinedand a synopsis of these data was generated for a comprehensive review of fertility potential in disorders of sex development. Results While patients with some DSDs may have functioning gonads with viable germ cells but an inability to achieve natural fertility secondary to incongruent internal or external genitalia, other patients may have phenotypically normal genitalia but infertility due to abnormal gonad development. Fertility rates in females with congenital adrenal hyperplasia (CAH) depend on phenotype and are inversely proportionalto the severity of the disease. Men with classic CAH have reduced fertility and due to the presence of testicular adrenal rest tumors and to suppression of the hypothalamic-pituitary-gonadal axis by high systemic levels of androgens. Infertility is seen in complete androgen insensitivity and subfertility is common in partial cases. Fertility is rare in pure or mixed gonadal dysgenesis, ovotesticular disorder, Klinefelter syndrome, and XX males. Conclusion Fertility potential appears to be the highest in patientswith XX or XY CAH, especially non-classic forms. Advancements in assisted reproduction techniques has in rare cases produced offspring in some diagnoses thought to be universally infertile. Discussion of fertility issues with the patient and family is essential to the optimal treatment of each patient and an important part of the multi-disciplinary approach to evaluating and counseling these families.

Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center.The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery.This prospective, observational study included children aged2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty.Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings.This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life.In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.

Verkauskasa et al. are to be commended on the depth of their investigation on hormonal parameters and histological changes in boys with cryptorchidism [1]. The overall finding of the study, which is that Ad spermatogonia counts decrease with age of cryptorchid testis biopsy, is consistent with other studies and highlights the need for prompt treatment of cryptorchid patients after 6 months of age [2]. In the subgroup that had a high risk of infertility because of absence of Ad spermatogonia stem cells, the LH levels were lower than expected, consistent with this subgroup having a hypogonadotropic hypogonadism. However, this group is small, less than 20% of the total sample. While the Ad numbers were low in the patients studied, it appears that the count was zero in only 21/51 pts (i.e. the majority of testes showed some germ cell maturation). The authors claim that transformation of gonocytes into Ad spermatogonia is testosterone dependent; however, there are also contrary animal and human studies which show that, even in complete androgen insensitivity, Ad spermatogonia appear normal initially. This would suggest that gonocyte transformation into Ad spermatogonia may be androgen-independent. Furthermore, several recent studies in animals and humans show that the pathogenesis and etiology of isolated cryptorchidism is likely multifactorial and in most cases unknown [3]. The bottom line is this: while men with a history of unilateral cryptorchidism tend to have lower sperm counts than the normal

Purpose: Cryptorchidism has been associated with infertility. We hypothesize that a positive correlation exists between testicular histopathology at orchiopexy and future fertility potential in patients with cryptorchidism.Materials and Methods: Patients with cryptorchidism who underwent orchiopexy with bilateral testis biopsies were followed into adulthood. Testis histology was stratified into groups based on total germ cells per tubule and adult dark spermatogonia per tubule. After age 18 years, patients underwent hormonal testing and semen analysis. Mean semen analysis parameters and hormone levels were compared among histopathology groups.Results: A total of 91 patients with unilateral undescended testes and 19 with bilateral undescended testes had data for review. No significant differences in semen analysis parameters were seen among the germ cells per tubule groups. In unilateral undescended testis, sperm density and sperm count in the abnormal adult dark spermatogonia per tubule group remained wit...

Purpose Partial nephrectomy is increasingly used in children with bilateral Wilms' tumor (BWT) or contralateral recurrence. Nephron-sparing surgery seeks to achieve complete tumor removal while preserving functional renal parenchyma. Previous series have documented high rates of complications, recurrence, and mortality. Methods Twelve patients (4 boys and 8 girls aged 9-42 months) with BWT or contralateral recurrence were treated at our institution with unilateral or bilateral partial nephrectomy. Preoperative imaging, operative notes, and pathology reports were reviewed. Outcomes analyzed included complications, recurrence, readmission rate, postoperative glomerular filtration rate (GFR), and survival. Results All patients underwent successful nephron-sparing resection using standard techniques, with only 2 patients requiring unilateral nephrectomy. Median length of stay was 3 days. There were no major complications or urine leaks. Two patients were lost to follow-up. The remaining 10 were followed up for a median of 36 months (range, 3-79 months). There have been no recurrences or unplanned readmissions. Mean GFR is 107.7 (±32.8) mL/min per 1.73 m 2 , with no patient having a GFR below the lower limit of normal for age. Conclusion Nephron-sparing resection is a safe and effective approach for children with BWT or contralateral recurrence and should be part of the multimodality therapeutic approach to this disease.

Summary Introduction Re-operative penile reconstruction is challenging and requires tension-free skin closure. The repair popularized by Cecil and Culp in the 1940s, using the scrotum to provide a temporary vascularized bed for complex hypospadias repairs, fell out of favor due to temporal trends towards single-stage repairs and concern for utilizing hair-bearing skin on the penile shaft. Objective It was hypothesized that a modified Cecil-Culp (CC) concept of penile scrotalization, leaving the penis attached to the scrotum for 1 year rather than 6 weeks as originally described, improves outcomes with this reconstruction for ventral skin deficiency or poor vascular support. Methods Institutional Review Board-approved registries were reviewed to identify patients who underwent a CC repair during 1987–2016 at two institutions. Cecil-Culp technique was utilized in multi-stage hypospadias complication repairs or for insufficient ventral penile shaft skin coverage. Anatomic abnormality, number and type of prior surgeries, and complications before and after CC were recorded. Results Thirty-nine patients underwent CC: 23 failed hypospadias repairs, three hypospadias after bladder exstrophy, 10 penile curvature following circumcision, and three with skin loss from trauma. Mean age at CC was 61.8 months (hypospadias), and 59.8 months (non-hypospadias). Hypospadias patients underwent a mean of 3.6 surgeries (range 1–9) prior to CC. Four of the 39 patients (10.3%) had perioperative complications after CC, including scrotal abscess, skin infections, and difficulty removing the urethral stent. Eight of 37 (21.6%) patients had longer-term complications related to their hypospadias repair, including fistulae, diverticula, dehiscence, and stricture. Mean time from CC placement to release was 345 and 473 days for hypospadias and non-hypospadias cases, respectively. There was no apparent scrotal skin transferred to the penile shaft at the final take-down. Mean follow-up was 22.3 months. Discussion Embedding the penis into the scrotum for added vascularity and ventral skin coverage has been used effectively in cases of the most tenacious fistulas and for significant skin loss and trauma. Limitations of this study were its retrospective approach at two institutions over an extended period of time by multiple surgeons, so patient selection and procedure may have varied. Conclusions Modification of CC repair by delaying 9–12 months before CC take-down enhanced the benefits of a robust vascular bed for wound healing, and helped to avoid transfer of hair-bearing scrotal skin to the penile shaft. The CC technique is an important tool for penile reconstructive surgery of complex hypospadias repairs with inadequate skin, and for traumatic injuries.

Cryptorchidism is a common genital anomaly diagnosed at birth or during childhood. Genetic and/or environmental factors that alter expression or function of hormones crucial for testicular descent, insulin-like 3, and testosterone, may contribute to cryptorchidism. When identified at birth, surgical treatment is indicated by 6 months of age if testes fail to descend, or at the time of diagnosis in older children. A laparoscopic approach is preferred for abdominal testes. Early surgical therapy may reduce the risk of subfertility and/or malignancy.

The evaluation and management of neonates with ambiguous genitalia requires sensitivity, efficiency, and accuracy. The approach to these neonates is facilitated by a multidisciplinary team including urology, endocrinology, genetics, and psychiatry or psychology. Disorders of sex development (DSD) encompass chromosomal DSD, 46,XX DSD, and 46,XY DSD. The 46,XX DSD is the most common DSD and in the majority of these children congenital adrenal hyperplasia is the underlying etiology. The 46,XY DSD is a heterogeneous disorder that often results from a disruption in the production or response to testosterone, dihydrotestosterone, or Mullerian inhibitory substance. Chromosomal DSD includes conditions resulting from abnormal meiosis, including Klinefelter syndrome (47, XXY) and Turner syndrome. The evaluation of children with DSD demands a thorough physical examination, medical history, karyotype, metabolic panel, 17-OH progesterone, testosterone, luteinizing hormone, follicle stimulation hormone, and urinalysis. A radiographic evaluation should begin with an abdominal and pelvic ultrasound but may include magnetic resonance imaging, endoscopy, or laparoscopy.

Gonadal damage is a consequence of therapy for pediatric malignancies. Prepubertal males have no semen or mature spermatozoa, posing a challenge for fertility preservation. Testicular tissue cryopreservation is a potential option but is still experimental. We report on a pilot protocol that offered testicular biopsy cryopreservation to families of prepubertal boys with newly diagnosed malignancy. The aims were to determine the acceptability and safety of this procedure.Parents of prepubertal boys with diagnoses at highest risk for treatment-related gonadal damage were offered the option of testicular cryopreservation. Half of the biopsy was frozen for the subject's potential future use and the remainder used for research. Data on negative intraoperative and/or 7 day post-operative sequelae of testicular biopsies were assessed. Two to four weeks later, parents were asked to complete a questionnaire on factors influencing their decision to have the biopsy or not.Since January 2008, 24 boys have met the eligibility criteria but three required immediate treatment and were excluded. Sixteen of 21 families (76%) consented to testicular biopsy, indicating the prospective acceptability of this option to parents of boys aged 3 months to 14 years; 14 underwent the procedure without any negative intra- or post-operative sequelae. Although the time at diagnosis is stressful, families can give thoughtful consideration to this option. Factors such as religion, finance, ethics and the experimental nature of cryopreservation did not play a major role in decision-making.Parents of prepubertal boys with cancer are willing to pursue testicular tissue cryopreservation at diagnosis, and testicular biopsy caused no acute adverse effects.

Normal human sexual development occurs in a highly regulated process that comprises three distinct phases: establishment of chromosomal sex, development of the sex-specific gonads and phenotypic differentiation of the internal ductal anatomy and external genitalia. The latter two phases are mediated by specific hormonal effector molecules, including anti-Müllerian hormone and testosterone, and their dysregulation often leads to the development of a phenotypic disorder of sexual differentiation. This review describes the hormonal mediators that are involved in sexual development and the disorders of sexual differentiation that arise from their dysfunction.

We assessed the testicular growth of adolescent males followed nonsurgically for the presence of left varicocele.We retrospectively reviewed the charts of adolescent males with a diagnosis of unilateral left varicocele and ultrasound testis volume measurements seen during a 10-year period. A total of 161 boys underwent at least 2 testicular ultrasounds as part of the evaluation for left varicocele. Patients were excluded from study for a history of inguinal/scrotal pathology or endocrinopathy that could affect testicular size. Sonographic testicular volume was calculated using the Lambert volume (length x width x height x 0.71). The resulting volumes were compared to previously published criteria for surgical repair (15%, 20% and 2 cc size differentials).Of the 71 boys with 3 followup ultrasounds 38 (54%) initially had a 15% or greater volume differential. After nonsurgical followup with ultrasounds for 2 years 60 boys (85%) had testicular volume differentials in the normal range (less than 15%). Of the patients 71% were spared potential surgery by size criteria and 50% were spared surgery by the same 15% volume differential criteria.Adolescent males with unilateral left varicocele often demonstrate asynchronous testicular growth that usually equalizes in time. Therefore, sonographic testicular size measurement at a single point during adolescence is insufficient to determine the need for varicocelectomy. When contemplating varicocelectomy we recommend at least 2, and preferably 3, testicular volume measurements 1 year apart to establish accurately decreased left testicular volume compared to a normal right testis.

We present a newborn infant with ovotesticular disorder of sex development and sex chromosome mosaicism with a supernumerary ring(Y), and a normal female cell line (47,XXr(Y)[10]/46,XX[40]. The ring (Y) was inherited from the child's father, and was transmitted following assisted reproductive technology and intracytoplasmic sperm injection (ICSI). The father presented with infertility and oligospermia, but cytogenetic analysis had not been carried out as part of the infertility workup. The Y containing cell line had not been seen on amniocentesis, which had shown a 46,XX apparently normal female karyotype in all cells studied. Molecular analysis using polymorphic probes from the X chromosome demonstrated that the 47,XXr(Y) cell line in the child was consistent with inheritance from the father, following meiosis I paternal non-disjunction. This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction.

Laparoscopic transvesical ureteral reimplantation with or without robot assisted surgical devices is being developed as an alternative to open surgery. We sought to review our experience with an extravesical robotic technique, to determine whether postoperative voiding dysfunction might be avoided with pelvic plexus visualization and to evaluate the overall feasibility of this approach to ureteral surgery.A total of 41 patients underwent robotic extravesical reimplantation for bilateral vesicoureteral reflux. The patients were divided into groups based on bladder capacity as measured by voiding cystourethrogram. The operation was performed via a transperitoneal approach with robotic assistance using the da Vinci Surgical System.Operative success rates were 97.6%. There were no complications. There were no episodes of urinary retention documented by bladder scanning.Robotic extravesical reimplantation is in its infancy, and visualization of the pelvic plexus appears to be paramount in avoiding postoperative voiding complications. This approach appears to be a feasible and reasonable option for vesicoureteral reflux correction.

Objective Advancements in oncologic therapy have increased long-term survival rates for children with childhood cancers. As survival has increased, the secondary effects of treatment have come into focus for patients and family. Infertility preservation in prepubertal children is a particularly difficult task as options are limited compared to adult counterparts with mature gametes. Methods A systematic review of the published literature was conducted using keywords relevant to fertility preservation in the pediatric population undergoing oncologic treatment. Results We review the impact of cancer therapy upon gonadal function and identify the risk factors for future infertility in the prepubertal population. Treatment modifications that could modify the degree of potential damage to reproductive organs yet maintain oncologic principles were highlighted. Pubertal males and females have the opportunity to donate mature sperm or oocytes as do their adult counterparts; however, for the prepubertal child this is not the case. The options for these patients are considered investigational at this point and center on testicular tissue cryopreservation in males and oophorectomy vs ovarian cortical tissue cryopreservation in females. Conclusion Infertility is an unfortunate side effect of oncologic treatment. Options are limited in the prepubertal population but tissue preservation and potential fertility should be discussed with all at-risk patients and their parents.

Varicocele is one of the most common genital conditions referred to pediatric urologists. Most adolescents with varicocele are asymptomatic and their fertility future (and surgery benefit) is largely unknown. This review assesses varicocele evaluation, management and indications for repair, as well as types and success of varicocelectomy.A systematic literature review was performed on Embase™, PubMed® and Google Scholar™ for adolescent varicocele. Original research articles and relevant reviews were examined, and a synopsis of these data was generated for a comprehensive review of clinical adolescent varicocele management.The prevalence of adolescent varicocele is similar to the adult population. While ultrasound is the most sensitive method for determining testicular volumes, orchidometer measurement may be adequate to gauge significant discordance. Significant hypotrophy of the affected testis with poor total testicular volume may indicate a testis at risk and warrant surgical repair. Similar findings have been noted with an associated high peak retrograde venous flow. Testicular hypotrophy often resolves following surgery but may also improve spontaneously if followed through adolescence. Continued scrotal pain despite adequate support or serial abnormal semen analysis in Tanner stage V boys is an indication for varicocelectomy. Artery and lymphatic sparing techniques (microscopic subinguinal or laparoscopic) are associated with the lowest risk of recurrence and complications.Overtreatment and under treatment are medically and financially costly. Abnormal serial semen analysis with or without testicular hypotrophy is an indication for varicocele repair. If observation remains the treatment, followup with an adult urologist should be encouraged until paternity is achieved.

Purpose: Inpatient stays of 3 to 5 days are common in the surgical management of vesicoureteral reflux and often include the use of bladder catheters, ureteral stents and perivesical drains. We reviewed our recent experience, in which patients undergoing routine ureteroneocystostomy were often discharged home on postoperative day 1 to determine the safety and efficacy of our management.Materials and Methods: Between July 1998 and March 2001 patients who underwent intravesical ureteroneocystostomy at 2 major tertiary care institutions were identified. Patients who also underwent simultaneous additional operative procedures, bilateral ureteral duplication or ureteral tapering were excluded from study. Data recorded included patient demographics, the procedure, operative and postoperative pain, nausea and bladder spasm management, hospital stay, post-hospital discharge problems and operative success.Results: Of the 113 patients with complete data available for analysis 101 received ketorolac postoperatively,...

Summary Introduction Adolescent males with varicoceles present a dilemma for surveillance and treatment. Testicular volumetrics have not been shown to predict SA outcomes. Serial SAs are thus recommended in asymptomatic adolescent males with varicoceles and normal testicular development, but the natural history of semen parameters is unknown. Objective To explore the natural history of semen parameters in adolescent boys with a left varicocele under active surveillance. Study design Adolescents with an asymptomatic unilateral left varicocele, Tanner V development, normal testicular volumes, and an initial SA were retrospectively reviewed in a single-institution prospectively followed cohort. Total motile count (TMC) was calculated. A cutoff of TMC Z 20 million was used to dichotomize SA results into “normal” or “poor.” Those with poor SA were offered repeat SA. Cumulative probabilities of normal TMC over successive rounds of SA were calculated. Bivariate models were used to explore associations of a second consecutive poor TMC with age and varicocele grade. Results A total of 216 patients provided an initial SA between 1992 and 2015. We excluded 17 for a history of cryptorchidism or incomplete SA data for a final cohort of 199 patients with median follow-up of 3.3 years (interquartile range 1.5–5.6 years). The mean age at initial SA was 17.9 years (range 14.8–21.8 years). One hundred and nine out of 199 had an initial normal TMC. Of the 90 out of 199 with an initially poor TMC, 51 had repeat SA and 24 of the 51 patients improved to normal TMC. Of the 27 patients with two consecutive poor TMCs, 15 had a third SA and five out of 15 improved to normal TMC. Thus, cumulatively, 55%, 67%, and 69% of all patients had a normal TMC after an initial, second, and third SA, respectively. However, fewer patients in each round of SA normalized their TMC ( Figure ). Neither age nor varicocele grade was associated with a second consecutive poor TMC. Discussion Two-thirds of Tanner V boys with an uncorrected varicocele and normal testicular volumes achieve a normal TMC regardless of varicocele grade or age. Despite Tanner V development, 47% with an initial “poor” SA will improve to normal status without surgery. However, a small subgroup of patients will have persistently poor TMC and thus should be targeted in future research for timely intervention. Conclusion Semen parameters improve over time. SA should be followed and repeated at least once in symptomatic Tanner V boys with varicoceles. Download : Download high-res image (98KB) Download : Download full-size image Figure . Semen analysis outcomes.

Summary Purpose The main indications for adolescent varicocelectomy are testicular hypotrophy or pain. However, we have previously shown that both serial total testicular volume and volume differential are weakly associated with semen quality. The ultimate patient goal is paternity, but semen analysis is critical to appropriate management of varicocele. We hypothesize that varicocelectomy improves total motile count (TMC) among patients who only have abnormal semen analysis (SA) parameters, but not among those with potential hormonal dysfunction such as Klinefelter syndrome or cryptorchidism. Methods We retrospectively reviewed our registry of adolescent males followed with a clinical left varicocele. For this study, subjects without sustained testicular asymmetry, who were Tanner V, and gave at least one preoperative SA were included. Subjects were excluded if they had embolization for their varicocele or no postoperative SA. Primary outcome was change in TMC before and after surgery, compared using the Wilcoxon signed rank test after stratifying by surgical indication. Secondary outcomes included rates of improved TMC and normalized TMC (>20 million) after surgery, compared across covariates using the Fisher exact test. Results Seventeen patients met the eligibility criteria, 11 of whom underwent repair for only abnormal preoperative TMC. Overall, median age (interquartile range [IQR]) at first preoperative SA was 17.6 (15.9–17.9) years. The median preoperative TMC across all SA was 2.8 (0.7–7.4) million. The median age at surgery was 18.2 (16.8–18.9) years. Postoperatively, the median TMC across all SA increased to 18.2 (3.6–18.2) million (Wilcoxon signed rank test, p Conclusions Adolescent varicocele patients should undergo SA after development of Tanner V. Varicocelectomy has a high success rate for improving TMC in adolescent or young adult males who only have abnormal TMC and no history of cryptorchidism. Download : Download high-res image (153KB) Download : Download full-size image Figure . Change in total motile count after varicocelectomy by patient.

Purpose: Human chorionic gonadotropin (HCG) has a stimulatory effect on testicular steroidogenesis and has been widely used for evaluating male Leydig cell function. However, considerable variability exists in the protocols for HCG stimulation tests. In the most commonly used protocols HCG is administered daily for several days. We examine the circulating androgen response after 1 and 3-dose HCG regimens.Materials and Methods: We evaluated 77 prepubertal boys diagnosed with hypospadias, cryptorchidism or micropenis. In 60 boys who underwent 1 dose of 100 IU/kg. or 5,000 IU/1.7 m.2 HCG serum testosterone and dihydrotestosterone were sampled at 72 (28) and 96 (32) hours after injection, while in 17 who underwent 3 daily age adjusted doses hormone levels were determined on day 4. All blood specimens were obtained and injections were performed at 8:00 to 9:00 a.m. and all specimens were evaluated at the same endocrine reference laboratory.Results: Nonstimulated testosterone levels were prepubertal in all grou...

Approximately 10 to 30% of prenatal cases of hydronephrosis result in the postnatal diagnosis of vesicoureteral reflux. Using a new generic prenatal-postnatal data sheet developed by the Society for Fetal Urology the characteristics, natural history and outcome of prenatal hydronephrosis confirmed postnatally to be vesicoureteral reflux were documented at 3 centers.We performed a retrospective multicenter review of Society for Fetal Urology data sheets completed for each patient in whom prenatal hydronephrosis was proved to be postnatal vesicoureteral reflux from 1993 to 1998.In 56 male and 15 female patients with prenatal hydronephrosis a total of 116 refluxing renal units were confirmed postnatally. Of the 116 renal units 112 were hydronephrotic prenatally. During gestation increased hydronephrosis was noted with voiding in 4 cases. Of the 112 hydronephrotic renal units only 26 ureters in 15 patients were seen prenatally. The obstetrician considered the diagnosis of vesicoureteral reflux in only 24% of the cases. Postnatally 116 refluxing renal units were identified. Initial postnatal ultrasound was normal in 25% of the cases. Bilateral reflux was present in 36 male and 9 female patients. In 10 of the 19 uncircumcised patients (53%) urinary tract infection developed despite antibiotic prophylaxis. In 15 of the 74 renal units with grades III to V reflux the condition resolved at an average patient age of 0.9 and 2.1 years in boys and girls, respectively. A total of 27 refluxing renal units were reimplanted.The majority of prenatal reflux occurs in boys, and it is high grade and bilateral. The data sheets designed by the Society for Fetal Urology are useful data collection instruments. The presentation and natural history of vesicoureteral reflux are different in male and female individuals. In a significant number of renal units high grade reflux resolves spontaneously. Early circumcision may decrease the incidence of breakthrough urinary tract infection in this subpopulation. In addition, the effective management of prenatally detected reflux depends on multispecialty communication.