Gonadal Function in Boys with Bilateral Undescended Testes.

Background: Bilateral undescended testes (BUDT) may be a marker of an underlying condition that affects sex development or maturation. Aims: To describe the extent of gonadal dysfunction in cases of BUDT who had systematic endocrine and genetic evaluation at a single tertiary pediatric center. Methods: A retrospective review was conducted of all boys with BUDT who had endocrine evaluation between 2008 and 2021 at the Royal Hospital for Children, Glasgow (RHCG). Continuous variables were analyzed using Mann-Whitney U and non-continuous variables using Fisher's exact, via Graphpad Prism v 8.0. Multivariable logistic regression was used to identify any associations between groups. A P < .05 was considered statistically significant. Results: A total of 243 bilateral orchidopexies were performed at RHCG between 2008 and 2021. Of these 130 (53%) boys were seen by the endocrine team. The median (range) age at first orchidopexy was 1 year (0.2, 18.0) with 16 (12%) requiring re-do orchidopexy. The median External Masculinization Score of the group was 10 (2, 11) with 33 (25%) having additional genital features. Of the 130 boys, 71 (55%) had extragenital anomalies. Of the 70 who were tested, a genetic abnormality was detected in 38 (54%), most commonly a chromosomal variant in 16 (40%). Of the 100 who were tested, endocrine dysfunction was identified in 38 (38%). Conclusion: Genetic findings and evidence of gonadal dysfunction are common in boys who are investigated secondary to presentation with BUDT. Endocrine and genetic evaluation should be part of routine clinical management of all cases of BUDT.

Impact of rectal dissection technique on primary-school-age outcomes for a British and Irish cohort of children with Hirschsprung disease.

BACKGROUND: This prospective cohort study compared primary-school-aged outcomes between children with Hirschsprung disease (HD) following Soave, Duhamel or Swenson procedures. METHODS: Children with histologically proven HD were identified in British/Irish paediatric surgical centers (01/10/2010-30/09/2012). Parent/clinician outcomes were collected when children were 5-8 years old and combined with management/early outcomes data. Propensity score/covariate adjusted multiple-event-Cox and multivariable logistic regression analyses were used. RESULTS: 277 (91%) of 305 children underwent a pull-through (53% Soave, 37% Duhamel, 9% Swenson). Based upon 259 children (94%) with complete operative data, unplanned reoperation rates (95% CI) per-person year of follow-up were 0.11 (0.08-0.13), 0.34 (0.29-0.40) and 1.06 (0.86-1.31) in the Soave/Duhamel/Swenson groups respectively. Adjusted Hazard Ratios for unplanned reoperation compared with the Soave were 1.50 (95% CI 0.66-3.44, p = 0.335) and 7.57 (95% CI 3.39-16.93, p < 0.001) for the Duhamel/Swenson respectively. Of 217 post-pull-through children with 5-8 year follow-up, 62%, 55%, and 62% in Soave/Duhamel/Swenson groups reported faecal incontinence. In comparison to Soave, Duhamel was associated with lower risk of faecal incontinence (aOR 0.34,95%CI 0.13-0.89,p = 0.028). Of 191 children without a stoma, 42%, 59% and 30% in Soave/Duhamel/Swenson groups required assistance to maintain bowel movements; compared to Soave, the Duhamel group were more likely to require assistance (aOR 2.61,95% CI 1.03-6.60,p = 0.043). CONCLUSIONS: Compared with Soave, Swenson was associated with increased risk of unplanned reoperation, whilst Duhamel was associated with reduced risk of faecal incontinence, but increased risk of constipation at 5-8 years of age. The risk profiles described can be used to inform consent discussions between surgeons and parents. LEVEL OF EVIDENCE: Level II.

Deprivation increases perforation risk in paediatric appendicitis.

Acute appendicitis is the most common surgical emergency in childhood. Perforation of the appendix conveys a worse outcome.This case-control study investigated the relationship between deprivation and appendiceal perforation in children in the West of Scotland.All children undergoing acute appendicectomy over a 2-year period were identified. Basic demographics including Scottish Index of Multiple Deprivation (SIMD) rank and clinical features including time to presentation and surgical findings were recorded. Associations were investigated using multivariable analysis.304 patients (62% male) underwent appendicectomy. Mean age was 10.4 years (SD ±3.5). Mean time from symptom onset to presentation was 2.3 days (SD ±2.5). Perforation rate was 44.41%.Perforation was associated with lower age (p=0.004, OR -0.10, 95% CI -0.17 to -0.33), increased time to presentation (p=0.044, OR 0.14, 95% CI 0.004 to 0.27) and SIMD tertile (p=0.027, OR 0.63, 95% CI 0.07 to 1.20). SIMD tertile was not associated with delayed presentation.Worsening deprivation independently predicts perforation, but this relationship is not mediated through a delay in presentation.

Outcomes at five to eight years of age for children with Hirschsprung's disease.

OBJECTIVE: This study describes core outcomes of Hirschsprung's disease (HD) in a UK-wide cohort of primary school-aged children. DESIGN: A prospective cohort study conducted from 1 October 2010 to 30 September 2012. Outcomes data were collected from parents and clinicians when children were 5-8 years of age, and combined with data collected at birth, and 28 days and 1 year post diagnosis. SETTING: All 28 UK and Irish paediatric surgical centres. PARTICIPANTS: Children with histologically proven HD diagnosed at <6 months of age. MAIN OUTCOME MEASURES: NETS1HD core outcomes. RESULTS: Data were returned for 239 (78%) of 305 children. Twelve children (5%) died prior to 5 years of age.Of the 227 surviving children, 30 (13%) had a stoma and 21 (9%) were incontinent of urine. Of the 197 children without a stoma, 155 (79%) maintained bowel movements without enemas/washouts, while 124 (63%) reported faecal incontinence. Of the 214 surviving children who had undergone a pull-through operation, 95 (44%) underwent ≥1 unplanned reoperation. 89 unplanned reoperations (27%) were major/complex.Of the 83 children with returned PedsQL scores, 37 (49%) had quality of life scores, and 31 (42%) had psychological well-being scores, that were ≥1 SD lower than the reference population mean for children without HD. CONCLUSION: This study gives a realistic picture of population outcomes of HD in primary school-aged children in the UK/Ireland. The high rates of faecal incontinence, unplanned procedures and low quality of life scores are sobering. Ensuring clinicians address the bladder, bowel and psychological problems experienced by children should be a priority.

Spuriously raised serum amylase in a five-year-old girl: a note of caution in paediatric blood sampling.

INTRODUCTION: Capillary (finger prick) blood sampling is commonplace in paediatric practice but this method is prone to produce spurious laboratory results. CASE PRESENTATION: A five-year-old girl presented with abdominal pain, epigastric tenderness, tachycardia and reduced oxygen saturation. A venous blood sample haemolysed, and serum amylase on a finger prick sample was reported as 2831 units/L. The working diagnosis was acute pancreatitis and respiratory tract infection. A repeat amylase 9 h later was within the normal range. The patient was known to bite her fingers and the possibility of salivary contamination was considered. Serum isoenzyme analysis confirmed presence of high salivary amylase levels with no pancreatic amylase detected. A viral respiratory tract infection and buried gastrostomy bumper were eventually thought to account for the patient's presentation. CONCLUSION: Increased awareness of the potential for salivary contamination of serum amylase in finger prick samples may prevent misdiagnoses of pancreatitis.

NETS1HD study: development of a Hirschsprung's disease core outcome set.

OBJECTIVE: The objective of this study was to develop a Hirschsprung's disease (HD) core outcome set (COS). METHODS: Candidate outcomes were identified from a systematic review and stakeholder nomination. A three-phase Delphi process and consensus meeting were used to prioritise candidate outcomes based on scores assigned by stakeholder participants using a nine-point scale. In phases two and three, participants were shown graphical representations of their panel's scores and all panels' scores respectively for each outcome from the previous phase. After the third phase, outcomes prioritised by two or three panels were taken forward to the consensus meeting. The COS was formed from the 10 highest scoring outcomes meeting the threshold for inclusion (≥70% 7-9 and <15% 1-3). RESULTS: Eighty-nine stakeholders (82%) completed all three phases of the Delphi process. Seventy-four outcomes were assessed in phase one of the Delphi process, the following 10 of which met criteria for inclusion in the COS: (1) death with cause specified, (2) long-term faecal incontinence, (3) long-term voluntary bowel movements without need for enemas, or rectal or colonic irrigation, (4) long-term psychological stress for the individual with Hirschsprung's disease, (5) long-term urinary incontinence, (6) objective score of quality of life, (7) objective score of bowel function, (8) unplanned reoperation, (9) >need for a permanent stoma, (10) enterocolitis. CONCLUSIONS: This HD COS is formed of 10 outcomes deemed important by key stakeholders. Use of this COS in research will reduce outcome reporting heterogeneity and increase our ability to identify gold standard treatments for HD.

NETS1HD: study protocol for development of a core outcome set for use in determining the overall success of Hirschsprung's disease treatment.

BACKGROUND: Use of core outcome sets in research has been proposed as a method for countering the problems caused by heterogeneity of outcome measure reporting. Heterogeneity of outcome measure reporting occurs in Hirschsprung's disease (HD) research and is limiting the development of a robust evidence base to support clinical practice. METHODS: Candidate outcome measures have been identified through a systematic review. These outcome measures will form the starting point for a three-phase online Delphi process to be carried out in parallel by three panels of experts. Panel 1 is a neonatal panel; panel 2 is a non-neonatal panel; and panel 3 is a lay panel. In round 1, experts will be asked to score the previously identified outcome measures from 1 to 9 based on how important they think the measures are in determining the overall success of their/their child's/their patient's HD. In round 2, experts will be presented with the same list of outcome measures and graphical representations of how their panel scored that outcome in round 1. They will be asked to re-score the outcome measure, taking into account how important other members of their panel felt it to be. In round 3, experts will again be asked to re-score each outcome measure, but this time they will receive a graphical representation of the distribution of scores from all three panels, which they should take into account when re-scoring. Following round 3 of the Delphi process, 40 experts will be invited to attend a face-to-face consensus meeting. Participants will be invited in a purposive manner to obtain balance between the different panels. Results of the Delphi process will be discussed, and outcomes will be re-scored. Outcome measures where >70% of participants at the meeting scored it 7-9 and <15% scored it 1-3 will form the core outcome set. DISCUSSION: Development of a core outcome set will help to reduce heterogeneity of outcome measure reporting in HD. This will increase the quality of research taking place and ultimately improve care provided to infants with HD.

Choledochal malformations: the Scottish experience.

INTRODUCTION: Excisional surgery for choledochal malformations in Scotland is currently performed in three specialist pediatric surgical centers using open or laparoscopic-assisted techniques. We reviewed the outcome of children who had excisional surgery in Scotland between 1992 and 2010. MATERIALS AND METHODS: Case notes for all patients undergoing excisional surgery in any of the three specialist pediatric surgical centers in Scotland between 1992 and 2010 were retrospectively reviewed. RESULTS: A total of 25 patients were identified, with a female preponderance of 4:1. Of these, three patients (12%) were diagnosed by antenatal ultrasound scan. The commonest presenting symptoms were anorexia (56%), abdominal pain (52%), and jaundice (52%). Only 20% had the classical triad of abdominal pain, jaundice, and a palpable mass. Using the King's College Hospital classification, 14 patients had type 1 malformations, 8 had type 4 malformations, and 3 had type 2 malformations. Median age at operation was 2 years (range 35 days to 13.5 years). Two centers performed open excision while the third center used primarily a laparoscopic-assisted technique. Median follow-up was 2.1 years (range 30 days to 11.9 years). Three patients (12%) required repeat laparotomy. The wound infection rate was 8% (n=2). The recurrent cholangitis rate was 8% (n=2). There was one late death due to adhesive small bowel obstruction, 4 years after surgery. To date, no patient has developed biliary tree stones or liver failure. CONCLUSIONS: Choledochal malformation excisional surgery, either open or laparoscopic assisted, can be safely performed in appropriately equipped, pediatric surgical centers in Scotland by experienced pediatric surgeons.

Gastroschisis: one year outcomes from national cohort study.

OBJECTIVE: To describe one year outcomes for a national cohort of infants with gastroschisis. DESIGN: Population based cohort study of all liveborn infants with gastroschisis born in the United Kingdom and Ireland from October 2006 to March 2008. SETTING: All 28 paediatric surgical centres in the UK and Ireland. PARTICIPANTS: 301 infants (77%) from an original cohort of 393. MAIN OUTCOME MEASURES: Duration of parenteral nutrition and stay in hospital; time to establish full enteral feeding; rates of intestinal failure, liver disease associated with intestinal failure, unplanned reoperation; case fatality. RESULTS: Compared with infants with simple gastroschisis (intact, uncompromised, continuous bowel), those with complex gastroschisis (bowel perforation, necrosis, or atresia) took longer to reach full enteral feeding (median difference 21 days, 95% confidence interval 9 to 39 days); required a longer duration of parenteral nutrition (median difference 25 days, 9 to 46 days) and a longer stay in hospital (median difference 57 days, 29 to 95 days); were more likely to develop intestinal failure (81% (25 infants) v 41% (102); relative risk 1.96, 1.56 to 2.46) and liver disease associated with intestinal failure (23% (7) v 4% (11); 5.13, 2.15 to 12.3); and were more likely to require unplanned reoperation (42% (13) v 10% (24); 4.39, 2.50 to 7.70). Compared with infants managed with primary fascial closure, those managed with preformed silos took longer to reach full enteral feeding (median difference 5 days, 1 to 9) and had an increased risk of intestinal failure (52% (50) v 32% (38); 1.61, 1.17 to 2.24). Event rates for the other outcomes were low, and there were no other significant differences between these management groups. Twelve infants died (4%). CONCLUSIONS: This nationally representative study provides a benchmark against which individual centres can measure outcome and performance. Stratifying neonates with gastroschisis into simple and complex groups reliably predicts outcome at one year. There is sufficient clinical equipoise concerning the initial management strategy to embark on a multicentre randomised controlled trial comparing primary fascial closure with preformed silos in infants suitable at presentation for either treatment to determine the optimal initial management strategy and define algorithms of care.

Intestinal atresia in association with gastroschisis: a 26-year review.

PURPOSE: We reviewed our experience with gastroschisis (GS) complicated by intestinal atresia over the last 26 years. Our aim was to determine the effect of different management strategies employed and the morbidity associated with this condition in our unit. METHODS: A retrospective casenote review was carried out. Data regarding the operative management of the GS and atresia was recorded. Primary outcome measures included time to commence and establish full enteral feeds, duration of parenteral nutrition, complications and outcome. RESULTS: Of 179 neonates with GS, 23 also had intestinal atresia. 13 underwent primary closure of the defect, 5 had patch closure and 5 had a silo placed. 4 atresias were 'missed' at first operation. The 19 recognised atresias were managed either by stoma formation, primary anastomosis or deferred management with subsequent primary anastomosis. There was wide variation in the outcomes of patients in each group. CONCLUSION: Differences in outcome between the management strategies are likely to reflect an inherent variability in patient condition, site of atresia, and bowel suitability for anastomosis at first surgery, rather than the mode of surgical management. Individual management plans should be tailored to the clinical condition of each patient.

Fractures of the clavicle.

Undisplaced fractures of both the diaphysis and the lateral end of the clavicle have a high rate of union, and the functional outcomes are good after nonoperative treatment. Nonoperative treatment of displaced shaft fractures may be associated with a higher rate of nonunion and functional deficits than previously reported. However, it remains difficult to predict which patients will have these complications. Since a satisfactory functional outcome may be obtained after operative treatment of a clavicular nonunion or malunion, there is currently considerable debate about the benefits of primary operative treatment of these injuries. Displaced lateral-end fractures have a higher risk of nonunion after nonoperative treatment than do shaft fractures. However, nonunion is difficult to predict and may be asymptomatic in elderly individuals. The results of operative treatment are more unpredictable than they are for shaft fractures.

A roadmap for the establishment of pediatric laparoscopic fundoplication.

AIM: The way to introduce laparoscopic fundoplication (LF) to a pediatric surgical unit has not been well described. We have taken a measured approach to introducing LF and report our experience in this paper. METHODS: All patients undergoing LF from the first case in April 2003 to December 2007 were reviewed retrospectively. Cases were identified from theater and discharge databases, and data were captured by using a structured proforma. RESULTS: Eighty-five LFs were performed on 51 males and 34 females, with a median age of 46.5 months (range, 2-218). Fifty-one cases (60%) were neurologically impaired; a further 26 (31%) had significant comorbidity. Seventy-eight (92%) cases were performed by, or under the supervision of, the two senior authors. The first 10 cases were performed under the mentorship of a visiting surgeon from an established pediatric laparoscopic center. Thereafter, LF was conducted as a two- then a one-consultant operation and was finally performed primarily by trainees under consultant supervision. The total number of LFs increased from 4 in 2003 to 29 in 2007. Nine major complications occurred in 8 patients (5 gastric perforations, 1 colonic gastrostomy tube insertion, 1 nasogastric tube sutured into a wrap, 1 midgut, and 1 gastric volvulus). Seven cases required a conversion to an open fundoplication. There was no 30-day mortality. Six patients have died since surgery; in none of the patients was the LF implicated. CONCLUSION: We recommend a measured approach to the introduction of LF with the transition from mentorship to local consultant practice and, finally, to a trainee procedure under consultant supervision. This approach yielded satisfactory results while minimising the disruption to trainee experience.