A Pilot Survey of Indian Stakeholders: Parents, Doctors, and Grown-Up Patients of Disorders of Sexual Differentiation on Management Decisions and Associated Gender Dysphoria.

Background and Aims: Of late, there are many legal representations from select quarters to halt all medical interventions in children with differences of sex development (DSD). In this survey on management decisions in DSD, we distil the views of Indian stakeholders: parents, physicians, and grown-up patients with DSD on their management decisions to identify decisional satisfaction or gender dysphoria. Methods: The survey domains included the patient demographics, final diagnosis, decision on the sex of rearing, surgical interventions, opinion of the stakeholders on the preferred age of sex assignment, final sex of rearing, and agreement/disagreement about sex assignment (gender dysphoria). Results: A total of 106 responses were recorded (66% parents, 34% grown-up patients aged 12-50 years). Among parents, 65/70 (95%) preferred the sex to be assigned soon after birth. All grown-up patients preferred sex to be assigned soon after birth. Regarding decisions on surgery, 74% of physicians and 75% of the grown-up patients felt parents should be allowed to decide interventions. Among Indian parents, 90% felt they should have the right to decide surgery in the best interest of their child for a safe social upbringing. Overall, gender dysphoria among Indian DSD patients was <1% (1/103, 0.97%). Conclusions: The predominant preference and opinion of major Indian stakeholders (physicians, parents, and grown-up DSD patients) support the existing approach toward DSD management, including early sex assignment and necessary medical intervention.

Loss of interest for training in paediatric surgery in India.

Background Despite the sizeable Indian paediatric population, few students have opted for postdoctoral (Magister Chirurgiae [MCh]/Diplomate of the National Board of Examinations [DNB]) courses in the past decade. We analyse the apparent loss of interest for training in paediatric surgery in India and suggest remedies. Methods We did a combination of an online questionnaire-based survey and several interviews among students, teachers and practitioners of paediatric surgery. The results were collated and analysed. Results Information from 238 questionnaires, 35 interviews and 75 feedbacks were distilled. About 83% of respondents agreed to a definite loss of interest among students in paediatric surgery, largely because of poor exposure during undergraduate/postgraduate courses and absence of a department in medical colleges. The blanket increase in seats has led to vacancies. The low saleability of paediatric surgery is linked to high personnel and infrastructure investment, modest remunerative potential and poor insurance cover for patients. Besides increasing public awareness, strategic governmental patronage in postdoctoral training (e.g. establishing a department in medical colleges, moderating the number of seats, encouraging performing training centres and rationalizing the bond after the training course) and facilitation of patient care (e.g. insurance cover for congenital conditions and paediatric surgeon in neonatal care units in district hospitals) is suggested. Conclusions The loss of interest in paediatric surgery among medical trainees is real and urgently requires a multipronged strategy by the medical fraternity, professional organizations and regulatory bodies across government and non-governmental sectors to facilitate a revival and cater to the sick surgical child in the future.

'Hybrid' Bronchopulmonary Malformation - Lobar Emphysema and Extra Lobar Sequestration.

Background: Idiopathic lobar emphysema (ILE) and bronchopulmonary sequestration (BPS) are two of the well-characterized pulmonary malformations. Case report: An antenatally detected case of a left bronchopulmonary malformation (BPM) was clinicoradiologically diagnosed to be a left upper lobar emphysema with isolated dextrocardia in the neonatal period. Besides the emphysematous left upper lobe, an accessory lobe akin to an extra lobar BPS was an operative surprise. Histopathological examination of both excised lobes led to a revised diagnosis of a 'hybrid' malformation comprising lobar emphysema and extra lobar BPS. The postoperative recovery was uneventful. Discussion/conclusion: The observations suggest that BPS and ILE may be interim entities in a continuum of abnormal embryogenesis. Such a hybrid malformation has not been hitherto reported.

Pelviureteric Junction Obstruction Due to Vascular Anomalies in Children - Simple Surgical Options.

Aims: Pelviureteric junction obstruction (PUJO) due to aberrant lower polar artery is conventionally managed with pyeloplasty. We present our experience of managing PUJO due to "vascular" anomalies-aberrant lower polar artery and vascular adhesions with simpler surgical options. Subjects and Methods: This is a protocol based, retrospective study of PUJO. Preoperative investigations included ultrasonography (USG) and diuretic renogram. An intraoperative methylene blue test (MBT) assessed transit across the Pelviureteric junction (PUJ) after release of vascular compression. Surgical management included adhesiolysis for vascular adhesions and pyelopyelostomy anterior to the aberrant polar artery. Postoperative studies were repeated after 3 and 6 months. Results: Fourteen of 144 PUJO (9.7%) were "vascular" obstructions. Those with vascular adhesions (six) were largely infants with antenatal hydronephrosis. Children with aberrant lower polar artery (eight) were older, had fleeting symptoms, minimally increased pelvic diameter and subtle impairment on diuretic renogram. Majority were term males with urinary tract infection. The MBT showed normal transit across the PUJ in all. Postoperatively, there was progressive improvement on USG and diuretic renogram after 3 and 6 months. None had any complication or redosurgeries. At a mean follow-up of 41.2 months, all are asymptomatic. Conclusions: PUJO due to extrinsic vascular anomalies is rare. Intraoperative evaluation with the MBT ruled out associated intrinsic pathology. We describe two simple surgical alternatives preserving the normal PUJ - adhesiolysis for vascular adhesions and pyelopyelostomy for aberrant lower polar artery. The preliminary outcomes are comparable to conventional pyeloplasty.

Awareness of Common Pediatric Surgical Entities among Practicing Indian Pediatricians.

AIM: Common pediatric surgical entities often get a delayed referral to the pediatric surgeon in the average Indian scenario. This study was conducted to assess the awareness about management of select common pediatric surgical entities among practicing pediatricians. MATERIALS AND METHODS: An online multiple-choice questionnaire consisting of twenty questions related to the diagnosis and management of common pediatric surgical entities encountered by pediatricians in their routine office practice was prepared, and the electronic link was circulated among the practicing pediatricians of India. Each question had one correct response. RESULTS: One hundred and seventy-five responses were obtained, collated, grouped, and analyzed. Overall, 35% of all responses were correct. Individually, 56% of respondents marked 51%-75% of answers correctly; only 7% scored above 75%. Some clinical observations were disparate: 65% were unfamiliar with preputial adhesions and 51% would discharge a preterm neonate with inguinal hernia without a surgical consult. There is a tendency toward unnecessary imaging (60% - localization of undescended testis, 91% - wet umbilicus, and 51% - postanal dimple) and overzealous medical management (propranolol for the involuting hemangioma). However, 82%-88% concurred on the standard conservative or surgical management in index conditions such as hypospadias and umbilical problems. CONCLUSION: There was a concurrence in the principles of management of common pediatric surgical entities between pediatricians and pediatric surgeons in 35%. Misdiagnosis, unwarranted investigations, overzealous medical management, and delayed surgical consults figured in 65%. A systematic professional interaction between the physicians and surgeons would facilitate a coordinated management. A larger study would yield more meaningful data.

Non Syndromic Paucity of Interlobular Bile Ducts in Children - A Clinicopathological Study.

Background: Non syndromic paucity of interlobular bile ducts (NS-PILBD) constitutes a miniscule of infantile cholestasis. Method: Clinical details, investigations, surgical findings, management and outcome of cases of NS-PILBD at liver biopsy were analyzed. Specific histopathological features including bile duct to portal tract ratio were studied. Results: Eighteen cases (1993-2013) are detailed. Clinical presentation and investigations were similar to biliary atresia. Hepatic scintigraphy showed no gut excretion in 13/18 and operative cholangiogram was normal in all. Liver biopsy showed a median Scheuer fibrosis stage of 2, the mean bile duct/portal tract ratio was 0.29. The average age at last follow up of twelve cases was 54.9 months . Ten were asymptomatic and anicteric, the liver function tests had normalized over 3-15 months. Conclusion: Histopathology differentiated NS-PILBD from other causes of infantile cholestasis .The idiopathic form generally had a favorable long term outcome with medical management.

Multiple Atypical Esophageal Foreign Bodies in an Infant.

Foreign body ingestion is a common accidental emergency in children. We report an unusual case of multiple blunt and sharp esophageal foreign bodies in a female infant probably associated with homicidal intent and its management.

Xanthogranulomatous cystitis masquerading as bladder tumor in a child.

Xanthogranulomatous cystitis affecting the urinary bladder is extremely rare, and only around thirty adult cases and two pediatric cases have been reported in the literature. The treatment is predominantly surgical as the lesion is mostly infiltrative and mimics malignancy. We report probably the third pediatric case, who presented with symptoms of urinary tract infection and urinary retention and was initially suspected as bladder tumor on imaging. The diagnosis was confirmed on histopathology, and the child responded well to aggressive antibiotic therapy alone.

Cystic biliary atresia or atretic choledochal cyst: A continuum in infantile obstructive cholangiopathy.

Introduction: Both cystic biliary atresia and choledochal cyst present as infantile obstructive cholangiopathy. Methods: We detail an infant with congenital biliary dilatation and obstructive cholangiopathy where clinicoradiological features (antenatally imaged subhepatic cyst, early onset jaundice, intrahepatic dilated biliary radicals) suggested a choledochal cyst but operative findings (lack of a distal communication of cyst with duodenum) and histomorphological features (cicatricial collagen and myofibroblastic hyperplasia in the cyst wall; ductal plate malformation, ductular cholestasis and strong expression of CD56 in the liver) were those associated with biliary atresia. Conclusion: The observations support the contention that BA and CC may be interim entities in a continuum of manifestation of the same pathology.

Role of synaptophysin in the intraoperative assessment of quadrantic innervation of the proximal doughnut in Hirschsprung disease.

BACKGROUND: Symptoms may persist in a retained aganglionic segment of the colon after corrective (pull-through) surgery in Hirschsprung disease (HD). Thus, it is important to assess the proximal doughnut for innervation abnormalities intraoperatively by frozen sections stained with conventional haematoxylin and eosin stain and supported by rapid acetylcholinesterase (AChE) histochemistry. When the doughnut is proximal to the sigmoid colon, AChE is not useful and requires ratification by yet another rapid technique and hence this study. METHODS: Two pathologists independently evaluated fresh doughnuts from the proximal bowel clinically assumed to be of normal innervation intraoperatively and chosen for anastomosis in patients with HD along with controls using AChE and synaptophysin (SY) immunohistochemistry. RESULTS: From 38 patients with HD, 28 doughnuts (63.7%) showed normal innervation with intense SY activity in the mucosa, the muscularis and the ganglion cells. The circumferential aganglionic doughnuts (abnormal innervation) (n= 6, 13.6%) showed neither SY-positive fibres in the mucosa nor in the muscularis. The abnormal transition zone doughnuts (n=10, 22.7%) showed involvement of three quadrants of the doughnut in one, two quadrants in three and one quadrant in six with decreased SY-positive fibres in the muscularis and scattered ganglion cells with a statistically significant measure of agreement of (κ=0.973) between the two. CONCLUSION: The pattern, intensity and distribution of SY-positive fibres in the muscularis propria of the doughnut of the proximal bowel chosen intraoperatively for anastomosis in HD can identify sectors with abnormal innervation allowing the surgeon to seek normal innervation status more proximally to avoid complications.

Solitary Functioning Kidney in High Anorectal Malformation.

AIM: A solitary functioning renal unit in high anorectal malformation may harbor anomalies in the upper/lower urinary tract that further compromise renal function and accelerate hyperfiltration injury. We aimed to analyze the clinical course, management, and outcome of children with a solitary renal unit and high anorectal malformation. MATERIALS AND METHODS: A cohort of solitary renal units in anorectal malformation managed between 2000 and 2015 with a defined protocol at a pediatric nephro-urology clinic are included in the study. Investigations and management were individualized according to issues in the agenetic/dysplastic unit, solitary functioning unit, or bladder-urethra. Clinical details, management, and outcome were analyzed. RESULTS: Of 53 cases of high anorectal malformation with urologic anomalies, 17 (32%) had single kidneys. Majority (10/17, 59%) had another complicating urinary tract anomaly, four being uremic at presentation. Nearly half had multiple urinary infections including epididymo-orchitis unrelated to the rectourinary fistula and warranted additional stoma (bowel/urinary) or other urinary tract surgery. At a mean follow-up of 70 months, majority (14/17, 82%) have a preserved solitary renoureteric unit while the remaining three await renal replacement therapy. CONCLUSION: Solitary functioning renal units associated with high anorectal malformation in children need meticulous investigation and surveillance to facilitate renal preservation. The implications of the associated rectourinary fistula, vesicoureteral reflux, urinary infections including epididymo-orchitis, and other urinary tract anomalies on the conventional surgical management are illustrated.

Primary Pulmonary Rhabdomyosarcoma in a Child.

A 9-year-old female presented with fever, cough, and hemoptysis for a week. The chest skiagram and contrast-enhanced computerized tomography delineated a well-defined solid lesion localized to the superior segment of the right lower lobe with features of a congenital pulmonary airway malformation. The lesion was surgically managed with a segmentectomy and histopathology confirmed a contained pulmonary rhabdomyosarcoma (RMS). No other primary site of origin was evident, and a final diagnosis of "primary" pulmonary RMS was made. She received adjuvant chemotherapy and was disease free after 6 years of surveillance. The unique clinicoradiological features of the case are discussed and the sparse literature is reviewed.

Currarino syndrome with immature teratoma: A case report with review of literature.

ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.

Snodgrass (tubularized incised plate) versus Mathieu repair of distal hypospadias: A systematic review and meta-analysis of randomized controlled trials.

INTRODUCTION: Distal hypospadias accounts for the majority of hypospadias. Mathieu and Snodgrass techniques are widely used for repair of distal hypospadias but their comparative efficacy and reported outcomes are still debated. We conducted a systematic review and meta-analysis to compare the outcomes of these two techniques. METHODS: Electronic databases and trial registries were searched for randomized controlled trials (RCTs) comparing Mathieu and Snodgrass techniques for primary distal hypospadias repair. Outcome measures included complication rates and cosmetic outcomes. Risk of bias assessment was performed using the ROB2. Data was analyzed using Review Manager 5.4; Trial Sequential Analysis (TSA) also was conducted for important outcomes. RESULTS: Twelve RCTs were eligible for inclusion. The Snodgrass technique showed a significantly lower incidence of urethrocutaneous fistula (UCF) (RR 0.48, 95% CI [0.30-0.77]). However, there was no significant difference in the incidence of meatal stenosis (MS) between the two (RR 1.64, 95% CI [0.85-3.15]). TSA supports the findings for outcome UCF but not for MS. Operative time was shorter with the Snodgrass technique. CONCLUSION: This SRMA indicates a lower incidence of UCF with Snodgrass technique compared to the Mathieu technique in distal hypospadias repair. However, there was no significant difference in the risk of MS.

Impact of Urinary Tract Infection on Progression of Renal Scars and Formation of New Scars in Patients with Primary Vesicoureteric Reflux.

INTRODUCTION: Primary vesicoureteric reflux (VUR) is a prevalent cause of end-stage renal failure in children. Scars on radionuclide imaging indicate irreparable damage to the growing kidneys. This study aims to determine whether a urinary tract infection (UTI) associated with primary VUR promotes the development of new renal scars or progression in the pre-existing ones. MATERIALS AND METHODS: Children with primary VUR on continuous antibiotic prophylaxis at a tertiary teaching hospital's paediatric nephrourology clinic were observed prospectively. At recruitment, a renal cortical (dimercaptosuccinic acid [DMSA]) scan was done, and the children were followed up every 3 months. Breakthrough UTIs were documented, and follow-up DMSA scans were performed to document new scarring/grade advancement of existing scars in the renoureteric units (RUUs). RESULTS: Seventy-two RUUs in 36 patients were monitored. Fifty-four (75%) RUUs were exposed to VUR of different grades, and 46 (85.1%) had a UTI. On the DMSA scan, these showed new scar development in 10/18 (55%) RUUs and scar progression in 13/28 (46.4%) RUUs. Of the 8 RUUs with VUR and without UTI, new scars manifest in 4/5 (80%) and progressed in 1/3 (33%). On univariate analysis, there was no significant difference in the formation of new scars or scar advancement on the DMSA scan between RUU with VUR and UTI and those without UTI. There was a significant positive correlation between the scarring on DMSA scan and the grade of reflux (P < 0.001). CONCLUSION: Primary VUR patients had fresh or progressed scarring regardless of urinary infection. A higher VUR grade at presentation was a significant risk factor for scarring.

Detecting reflux: does ureteric jet Doppler waveform have a role?

BACKGROUND: Vesicoureteral reflux (VUR) has a prevalence of 30-40 % post-febrile urinary tract infection (UTI). If not detected early and treated, renal scarring, hypertension, and renal failure may occur. Micturating cystourethrography (MCU) is an invasive procedure associated with radiation exposure. Hence, this study aimed at evaluating the utility of ureteric jet Doppler waveform (UJDW) as a screening tool in detecting VUR, and at assessing the feasibility of performing it in children aged 2-4 years. METHODS: Any child 2-18 years old who needed an MCU was included. Exclusion criteria were active UTI, indwelling catheter, and inability to drink the required amount of fluid. The UJDW was performed prior to the MCU. RESULTS: One hundred eighty-two ureteric units were analyzed. Sensitivity and specificity of UJDW in detecting VUR was 80.3 and 87.9 %. Twenty-three children (45 ureteric units), aged 2-4 years were compared with 73 children (137 ureteric units), aged 5-18 years. Sensitivity and specificity of UJDW in detecting VUR in 2-4 years was 77.3 and 91.3 %, respectively; while in children ≥5 years, it was 81.8 and 87.1 %, respectively. CONCLUSIONS: UJDW has a uniformly high specificity regardless of age or etiological groups, making it a good tool for follow-up. UJDW is a feasible technique, even in children aged 2-4 years.

Left Gastric Artery Pseudoaneurysm Complicating Chronic Calcifying Pancreatitis in a Child.

A left gastric artery pseudoaneurysm is a rare complication of pancreatitis and is associated with significant morbidity and mortality. We report a 14-year-old male with severe abdominal pain and a palpable upper abdominal mass, earlier diagnosed as chronic idiopathic calcifying pancreatitis, and awaiting surgical intervention. Computed tomography showed a pseudocyst and a pseudoaneurysm in the lesser sac near the left gastric artery. The patient underwent successful angiographic coiling of the left gastric artery and definitive pancreatic surgery weeks thereafter. The early detection and interventional radiologic management of the vascular complication averted a life-threatening hemorrhage without emergency surgery in a pediatric patient.

Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum.

Ovarian Sertoli Leydig cell tumors (SLCT) accounts for less than 0.5% of all ovarian malignancies. The incidence of primary extra-ovarian SLCT is extremely rare with reported cases occurring in young adult women till now. We report case of primary retroperitoneal extra-ovarian SLCT in a seven-year girl child without any hormonal manifestation. She presented with complaint of left side abdominal swelling associated with intermittent pain for a duration of six months. CT scan revealed a huge retroperitoneal space-occupying lesion abutting the dorsal vertebrae and present posterior to pancreas, spleen and left kidney. The tumor was diagnosed as extraovarian Sertoli Leydig cell tumor with intermediate differentiation on histopathology and immunohistochemistry.