Surgical timing and complications, with body image, quality of life, sexual function and genital sensation in patients with congenital adrenal hyperplasia.

INTRODUCTION: The aim of this project was to document the long-term outcomes relating to sexual function, genital sensation, body image and quality of life, in an Australian cohort of adolescent and adult women with congenital adrenal hyperplasia (CAH) who have undergone feminising genitoplasty in infancy, childhood or adolescence. MATERIALS AND METHODS: Identification and follow-up of women with CAH aged 12-40 years who had their first feminising genitoplasty or ongoing management at a single tertiary referral center with multidisciplinary care (n = 80). Medical records were reviewed for Prader stage, and operative outcomes. The prospective component of the study included tracing indivudals aged 12-40 years (n = 69), of whom 34 were contactable. Twenty-one responded to the invitation to participate in the study, completing some or all of a series of validated standardized questionnaires and/or participation in examination of external genital with sensation testing. Results were compared to a control population of similar age distribution (n = 23). RESULTS: The median Prader stage was 3, median age at surgery was four months, median hospital stay of three days with 80 % of surgery undertaken by one surgeon. There was one major and eight minor complications. Re-operation rates were low. There was no difference between participants and controls in terms of sexual function, quality of life, or body image outcomes including genital appearance. Participants had increased sensitivity to soft touch on genital sensation testing compared to controls. Most participants (71 %) reported that early timing of surgery was 'good', four (19 %) felt their surgery was too late, one felt their surgery was too early, and one was unsure. Most were happy with the outcome of their surgery. DISCUSSION: Outcomes after feminising genitoplasty are mixed and influenced not only by the surgery itself, but also the ongoing management of the condition alongside each patient's own cultural and social context. At present there is no comparative data available on the sexual, mental, body image and quality of life outcomes of young females with CAH who have had their operation delayed until adulthood. Our study is limited by low participant response rate, and difficulty recruiting 1:1 control population for all participants, but nevertheless provides some insight into the outcomes of these patients for which limited data is available. CONCLUSION: In the population studied feminising genitoplasty in infancy and childhood had overall positive outcomes. This occurred in a tertiary center with expert multidisciplinary individualised care.

Minimally invasive surgery for neuroblastic tumours: A SIOPEN multicentre study: Proposal for guidelines.

INTRODUCTION: Surgery plays a key role in the management of Neuroblastic tumours (NB), where the standard approach is open surgery, while minimally invasive surgery (MIS) may be considered an option in selected cases. The indication(s) and morbidity of MIS remain undetermined due to small number of reported studies. The aim of this study was to critically address the contemporary indications, morbidity and overall survival (OS) and propose guidelines exploring the utility of MIS for NB. MATERIALS & METHODS: A SIOPEN study where data of patients with NB who underwent MIS between 2005 and 2018, including demographics, tumour features, imaging, complications, follow up and survival, were extracted and then analysed. RESULTS: A total of 222 patients from 16 centres were identified. The majority were adrenal gland origin (54%) compared to abdominal non-adrenal and pelvic (16%) and thoracic (30%). Complete and near complete macroscopic resection (>95%) was achieved in 95%, with 10% of cases having conversion to open surgery. Complications were reported in 10% within 30 days of surgery. The presence of IDRF (30%) and/or tumour volume >75 ml were risk factors for conversion and complications in multivariate analysis. Overall mortality was 8.5%. CONCLUSIONS: MIS for NB showed that it is a secure approach allowing more than 95% resection. The presence of IDRFs was not an absolute contraindication for MIS. Conversion to open surgery and overall complication rates were low, however they become significant if tumour volume >75 mL. Based on these data, we propose new MIS guidelines for neuroblastic tumours.

Left lateral retroperitoneoscopic total nephrectomy of a horseshoe kidney in a 3-year-old boy.

The unilateral or bilateral approach for nephrectomy in horseshoe kidney by minimally invasive surgery has been described. A total binephrectomy by a unilateral retroperitoneoscopic approach was performed for congenital nephrotic syndrome. A unilateral retroperitoneoscopic approach was planned in a 3-year-old boy (13 kg) with congenital nephrotic syndrome resistant to steroids with massive protein loss. The operative time was 160 min. The postoperative course was uneventful with continued hemodialysis until renal transplant 18 months later. The unilateral retroperitoneal approach allows total nephrectomy to be completed safely in horseshoe kidney for benign disease. The retroperitoneal access preserves the abdominal cavity, should peritoneal dialysis be required.

Surgically Managed Ovarian Masses at the Royal Children's Hospital, Melbourne -19 Year Experience.

BACKGROUND/PURPOSE: To describe the clinicopathological characteristics and management of surgically removed ovarian masses at the Royal Children's Hospital, Melbourne from 1993 to 2012. METHODS: Medical records were reviewed retrospectively. Data regarding clinical findings, imaging and surgical management were evaluated. RESULTS: There were 266 ovarian masses found in 258 surgeries (eight had bilateral masses). Most were benign (246/266, 92.5%), 2.3% (6/266) were borderline, and 5.3% (14/266) were malignant. The most common presenting symptom was abdominal pain for benign masses (169/246, 68.7%), and a palpable mass for borderline and malignant masses (12/20, 60.0%). Sensitivity and specificity of ultrasound for detection of malignancy was 64.7% and 52.9% respectively. Ovarian torsion occurred in 22.1% (n=57), none with malignancy, with seven cases diagnosed under one year of age. Sensitivity and specificity of ultrasound for ovarian torsion was 22.0% and 91.9%, respectively. The proportion undergoing ovarian cystectomy rather than oophorectomy has increased from 56.3% during 1993-1997 to 93.8% during 2008-2012 (p<0.005). Ovarian torsion was managed with ovarian conservation in 82.6% of cases between 2008-2012. CONCLUSION: The majority of pediatric and adolescent ovarian masses were benign. Sensitivity of ultrasound was fair for detection of malignancy, and poor for ovarian torsion. Conservative surgeries are increasingly common. LEVEL OF EVIDENCE: Level IV - case series with no comparison group TYPE OF STUDY: Retrospective Study.

One-stage combined delayed bladder closure with Kelly radical soft-tissue mobilization in bladder exstrophy: preliminary results.

BACKGROUND: The radical soft-tissue mobilization (RSTM, or Kelly repair) is an anatomical reconstruction of bladder exstrophy generally performed as a second part of a two-step strategy, following successful neonatal bladder closure. OBJECTIVE: The objective of this study is to determine the feasibility of a combined procedure of delayed bladder closure and RSTM in one stage without pelvic osteotomy, in both primary and failed initial closure. DESIGN, SETTING, AND PARTICIPANTS: From 11/2015 to 01/2018, 27 bladder exstrophy patients underwent combined bladder closure with RSTM by the same surgical team at four cooperating tertiary referral centers for bladder exstrophy, including 20 primary repairs (delayed bladder closure, median age 3.0m [0.5-37m]) and seven secondary repairs after failed attempt at neonatal closure, median age 10m [8-33m]. INTERVENTION: RSTM included full mobilization of the bladder plate, urogenital diaphragm, and corpora cavernosa from the medial pelvic walls, followed by anatomical reconstruction with antireflux procedure, bladder closure, urethrocervicoplasty, muscle sphincter approximation, and penile/clitoral reconstruction. OUTCOME MEASUREMENTS: The main criteria were bladder dehiscence or prolapse. Secondary outcomes included bladder neck fistula or urethral fistula, urethral stenosis, and parietal hernia. Continence and voiding have not been addressed at this stage. RESULTS AND LIMITATIONS: All bladder exstrophy cases were successfully closed without osteotomy, with no case of bladder dehiscence after 12 m [3-30] follow-up. COMPLICATIONS: Urethral fistula or stenosis occurred in eight patients: 4/5 fistulae closed spontaneously in less than 3 months; four urethral stenoses were successfully treated with 1-3 sessions of endoscopic high-pressure balloon dilatation or meatoplasty; one patient with persistent bladder neck fistula is currently awaiting repair. Although the follow-up is short, it does allow examination of the main outcome criterion, namely bladder dehiscence, which is usually expected to happen very early after surgery. CONCLUSION: The Kelly RSTM can be safely combined with delayed bladder closure without osteotomy in both primary and redo cases in classic bladder exstrophy.

Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty. OBJECTIVE: To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management. STUDY DESIGN: Females with CAH aged 12-40 years, who had undergone feminising genitoplasty, and were identified from a hospital database (n = 72). Those aged 12-15 years were assessed using the Paediatric Incontinence Symptom Index questionnaire in conjunction with sections of the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Those aged 16-40 years were assessed using the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Uroflowmetry studies and post-void residual volume ultrasounds were also conducted. Previously published normative data were used for the control population. RESULTS: Responses to the questionnaire indicated that CAH patients had a higher incidence of urgency, frequency, urge incontinence, unexplained incontinence and nocturnal incontinence, when compared to previously published control data. Average and maximum urine flow rates measured by uroflowmetry were within normal range; however, the 16-40-year-old age group had significantly increased mean post-void residual volumes (P < 0.001) (Summary table). DISCUSSION: The presence of lower urinary tract symptoms in these patients has previously been interpreted as a direct outcome of feminising genitoplasty; however, these results could also be accounted for by the virilisation of pelvic floor musculature. Androgens have been shown to increase skeletal muscle mass, but their exact impact on the pelvic floor musculature requires further research. Three previous studies have measured post-void residual volumes in patients with CAH, all of which found it them be raised. CONCLUSIONS: Patients with CAH appeared to have overall normal urinary flow but increased post-void residual volumes. The data suggested that this population of patients has an increased probability of incontinence, urgency, and frequency when compared to a control population. These results confirmed findings of other small studies; however, it remains unclear if these changes reflected the underlying diagnosis or were a consequence of management.

Is peritoneal dialysis feasible after laparotomy in children? A case-control series to compare outcomes.

OBJECTIVES: Peritoneal dialysis (PD) is the modality of choice for children with end-stage renal disease (ESRD) awaiting renal transplant; however, this option is sometimes avoided for those with previous laparotomy. The goal of this study was to compare the outcomes of PD in patients with and without previous laparotomy. PATIENTS AND METHODS: Twenty-four patients who had been started on peritoneal dialysis were retrospectively analysed. Group LAP consisted of six patients with previous laparotomy, and Group NO-LAP of 18 controls with either retroperitoneal or no abdominal surgery. The percentage of theoretical maximum volume of infusion, time to reach it, complications (infection and drainage difficulties), and number of catheters needed to finish therapy were analysed. RESULTS: The characteristics of patients and technique of insertion are presented in Table. The percentage of maximum theoretical volume of infusion was similar in both groups. Median of catheter survival was similar in both groups. Complications were divided into malfunction (slow drainage, obstruction or leak) and infection. Incidence of complications per catheter and per month of dialysis was ten times lower in Group NO-LAP. Peritoneal dialysis failed in one patient with recurrent intraperitoneal adhesions after adhesiolysis in Group LAP. CONCLUSION: Despite a higher incidence of complications (malfunction and infections), PD remains an acceptable option after laparotomy. In this series, it was sufficient in achieving adequate filtration in five patients.

Laparoscopic nephro-sparing surgery of juxtaglomerular cell tumor in a child.

OBJECTIVE: To report a case of juxtaglomerular cell tumour of the kidney (reninoma) in a child treated with laparoscopic nephron-sparing surgery. PATIENTS AND RESULTS: A 14-year-old girl was incidentally found to have hypertension (180/114 mmHg) at the time of adenotonsillectomy. Pre-operative investigations revealed a plasma renin level of 225.9 ng/dl (4.4-46), normal aldosterone, cortisol and urinary catecholamine. Abdominal ultrasound detected a 1.9 × 1.5-cm hypoechoic lesion in the right kidney lower pole; CT scan confirmed the presence of a 1.5-cm, circumscribed, solid, hypoenhancing cortical lesion in the right lower pole. Laparoscopic nephron-sparing surgery was accomplished by clamping the renal artery for 30 min; after excision, the tumour bed was closed using barbed V-loc sutures. The procedure was completed laparoscopically in 150 min with no peri-operative complications. The patient was discharged home on day 4 postoperatively. Histology confirmed the diagnosis of a juxtaglomerular cell tumour that was completely excised. The J-J stent was removed 1 month later. At follow-up, the patient's blood pressure was normalized and medications were stopped. A DMSA scan confirmed 36% residual right kidney function. CONCLUSION: Laparoscopic nephron-sparing surgery should be considered in children with juxtaglomerular tumours. This technique allows prompt recovery with preservation of significant renal function.

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves.

INTRODUCTION: Posterior urethral valves (PUV) are among the most common urological causes of chronic kidney disease (CKD) in childhood. Recently, genomic imbalances have been cited as potential risk factors for altered kidney function and have been associated with CKD. The phenotypic effects of a copy number variant (CNV) in boys with PUV are unknown. Here, it was hypothesised that the progression to early renal failure in PUV patients may be influenced by genetic aberrations. OBJECTIVE: To assess the relationship between CNVs and renal outcomes. PATIENTS AND METHODS: Between September 2012 and July 2015, 45 children with PUV were recruited to evaluate the presence of CNVs in their DNA. The patients' medical records were retrospectively reviewed. The criteria for outcomes of renal function included: assessments of the nadir serum creatinine in the first year of life, the estimated glomerular filtration rate at 1 and 5 years, and the requirement for renal replacement. RESULTS: Thirteen CNVs were identified in 12 boys (29% of the cohort). Microarray analysis revealed two pathogenic CNVs (well-established CNVs known to be associated with genetic disease) and 11 of unknown significance (CNVs with insufficient current available evidence for unequivocal determination of clinical significance), including genes that have been previously implicated in kidney diseases and urogenital disorders. The median follow-up was 10.2 years (range 3-17.5) in the group of patients with CNV compared with 5.8 years (range 1-16.6) in those CNV-. The nadir creatinine values were significantly higher in boys with CNVs than in those without CNVs (57.5 µmol/L (range 23-215) and 28 µmol/L (range 18-155), respectively (P = 0.05) (Figure). Boys CNV+ had a worse prognosis, with a higher incidence of Stage-V CKD compared with the control group (33% with CNVs vs. 9% in CNV-, P = 0.06) at a median age of 22 months (range 8 months-16 years). Four (33%) patients CNV+ underwent renal transplantation. DISCUSSION: The role of CNVs in the deterioration of renal function remains unknown. It can be hypothesised that CNVs could be a contributing factor or may serve as an accelerant for the progression to renal failure. CONCLUSION: The CNVs >100 Kb were significantly associated with early onset renal failure in children with PUV. Prenatal detection of CNV could help to identify foetuses at high risk of severe renal impairment in cases of suspected PUV, especially in cases without oligohydramnios or severe pulmonary hypoplasia. These preliminary results should be confirmed in a larger cohort of patients.

Outcomes and fate of the remnant moiety following laparoscopic heminephrectomy for duplex kidney: a multicenter review.

PURPOSE: To evaluate outcomes following laparoscopic heminephrectomy (LHN) in duplex kidneys in the pediatric population, focusing on the fate of the remnant moiety. METHODS: 142 patients underwent laparoscopic heminephrectomy for duplex kidney across 4 different institutions in the U.S. and Europe. Median age at surgery was 11.4 months. A retroperitoneoscopic approach was used in all patients, with 82 (57.7%) patients placed in posterior prone position (PPR), and 60 (42.3%) in lateral retroperitoneal (LRP). Follow up included routine ultrasound, and DMSA was performed in the event of abnormalities in ultrasound or postoperative course. RESULTS: Median operative time was 120 min. 11 patients (7.7%) required open conversion, the majority of which (8/11) occurred prior to 2000. Median hospital stay was 2 days and no major complications were observed. 7 patients (4.9%) developed a postoperative urinoma, and 1 patient required ureterectomy for urinary tract infection. With a median follow-up of 4.5 years, 7 children (4.9%) experienced significant loss of function in the remaining moiety, with 3 patients requiring completion nephrectomy. Of patients losing their remaining moiety, median age at surgery was 9 months [4 - 42], and all except 1 (6/7) had an upper pole heminephrectomy. Three patients in this group (42%) experienced an immediate postoperative complication (hematoma, UTI, urinoma). No consistent preoperative or technical factors were consistent in the renal loss group. CONCLUSIONS: LHN for duplex kidney produces satisfactory outcomes in the pediatric population. With a median follow up of 4.5 years, we demonstrate a non-functioning renal moiety rate of 5%. We did not identify any clinical predictors of this outcome in our series, although upper pole heminephrectomy, patient age, and postoperative complications may be contributing factors.