The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases. According to the recommendations of the Swiss National Ethical Commission, we shall use the term « Variation of Sex Development » rather than « Disorder of Sex Development » in this publication. This article addresses the care of DSD patients throughout development from the point of view of specialists in complementary fields.

The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases. According to the recommendations of the Swiss National Ethical Commission, we shall use the term « Variation of Sex Development » rather than « Disorder of Sex Development » in this publication. This article addresses the care of DSD patients throughout development from the point of view of specialists in complementary fields.

Estimation of glomerular filtration rate (eGFR) using a common formula for both adult and pediatric populations is challenging. Using inulin clearances (iGFRs), this study aims to investigate the existence of a precise age cutoff beyond which the Modification of Diet in Renal Disease (MDRD), the Chronic Kidney Disease Epidemiology Collaboration (CKD–EPI), or the Cockroft–Gault (CG) formulas, can be applied with acceptable precision. Performance of the new Schwartz formula according to age is also evaluated.

Le syndrome de Mowat-Wilson (SMW) est un syndrome congénital associant une dysmorphie faciale, une maladie de Hirschsprung, des anomalies urogénitales, des malformations cardiaques, une agénésie du corps calleux et des anomalies ophtalmologiques. Décrit en 1998 par Mowat et al, sa prévalence est actuellement inconnue. Le SMW est dû à des mutations ou délétions du gène ZEB2. Nous rapportons le cas d'un garçon, au diagnostic anténatal d'agénésie du corps calleux, qui présente à la naissance une persistance du canal artériel, un hypospadias et un dysmorphisme facial. Les investigations ultérieures mettent en évidence un strabisme convergent, un retard psychomoteur et un reflux vésico-urétéral droit de grade scintigraphique III. A l'âge de trois ans, des biopsies rectales confirment la maladie de Hirschsprung. L'ensemble de la symptomatologie est évocateur du SMW. Le SMW est une entité rare, avec des cas sporadiques. La dysmorphie faciale et le retard de développement psychomoteur sont des signes constants, alors que les malformations, graves et fréquentes, sont variables. La connaissance de ce tableau clinique peut amener à la réalisation précoce des investigations complémentaires, permettant une prise en charge pluridisciplinaire adaptée.

A 6-month-old boy presents to the paediatric emergency department with acute paroxysmal abdominal pain, vomiting and bloody stools. Your suspicion of intestinal intussusception is soon confirmed by an abdominal ultrasound. You are planning radiological reduction of the intussusception. You have heard that glucagon could be given to increase the chance of reduction, and you are wondering if you should administer it. In an infant [patient] with acute intestinal intussusception [condition], does the administration of glucagon [intervention] increase the rate of radiological reduction [outcome]? ### Primary sources A systematic review of the literature from 1966 to September 2011 was carried out. The Medline, Embase and Web of Science databases were searched. The Medline search strategy used both medical subject headings (MeSH) and free-text protocols. Specifically, the MeSH search was conducted by combining the following retrieved from the MeSH browser provided by Medline: intussusception AND glucagon AND randomized controlled trial. No limits were set. The searches on Embase and …

Estimated glomerular filtration rate (eGFR) is an important diagnostic instrument in clinical practice. The National Kidney Foundation-Kidney Disease Quality Initiative (NKF–KDOQI) guidelines do not recommend using formulas developed for adults to estimate GFR in children; however, studies confirming these recommendations are scarce. The aim of our study was to evaluate the accuracy of the new Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formula, the Modification of Diet in Renal Disease (MDRD) formula, and the Cockcroft–Gault formula in children with various stages of chronic kidney disease (CKD).

PURPOSE:We preoperatively assessed neurovesical function and spinal cord function in children with anorectal malformations. In cases of neurovesical dysfunction we looked for an association with vertebral malformation or myelodysplasia.MATERIALS AND METHODS:We prospectively evaluated 80 children with anorectal malformations via preoperative urodynamics and magnetic resonance imaging of the spine. Bladder compliance and volume, detrusor activity and vesicosphincteric synergy during voiding allowed urodynamic evaluation. Results were reported according to Wingspread and Krickenbeck classifications of anorectal malformations.RESULTS:Urodynamic findings were pathological in 14 children (18%). Pathological evaluations did not seem related to type of fistula or level of anorectal malformation. Vertebral anomalies were seen in 34 patients (43%) and myelodysplasia in 16 (20%). Neither vertebral anomaly nor myelodysplasia seemed associated with type of fistula or severity of anorectal malformation. Of 14 children with pathological urodynamics no vertebral anomaly or myelodysplasia was found in 7. Of 66 children with normal urodynamics 40 presented with vertebral or spinal malformation.CONCLUSIONS:Lower urinary tract dysfunction is common in patients with anorectal malformations. Normal spine or spinal cord does not exclude neurovesical dysfunction. Myelodysplasia or vertebral anomaly does not determine lower urinary tract dysfunction. Thus, we recommend preoperative urodynamic assessment of the bladder and magnetic resonance imaging of the spine in children with anorectal malformations.

INTRODUCTION:Hypospadias is associated with anomalies of the urinary tract, but the exact prevalence and significance of these anomalies are still controversial. OBJECTIVES:To assess the percentage of patients with hypospadias and associated urological anomalies, either requiring or not requiring medical or surgical attention. MATERIAL AND METHODS:We searched several databases using the following Mesh terms: hypospadias AND urination, ultrasonography, urinary tract/abnormalities, urinary bladder/radiography, ureteral obstruction, hydronephrosis or vesico-ureteral reflux. Type of uroradiological studies performed, type of urological anomalies, medical or surgical interventions, number of patients available, enrolled and undergoing uroradiological studies and number of patients with abnormal uroradiological exams were recorded. RESULTS:We found 24 studies. Four studies included 100% of available patients. In the other ones, the percentage of patients undergoing uroradiological screening varied from 12 to 82%. Frequency of anomalies varied from 0 to 56%. The most common anomalies were kidney position anomalies, vesico-ureteral reflux and hydronephrosis. CONCLUSIONS:The data published about screening patients with hypospadias for associated anomalies of their urinary tract are of poor quality. The clinical significance of the anomalies found is difficult to evaluate. We found no relationship between the severity of the hypospadias and associated anomalies of the upper or lower urinary tract.

We present a case of incomplete bladder duplication in a male child with no other associated anomalies and review the literature pertaining to this rare anomaly. Authors: Dushi, Gezim; Ramseyer, Pascal; Osterheld, Maria-Chiara; Meyrat, Blaise; Frey, Peter. CHUV, Lausanne, Switzerland. Corresponding Author: Peter Frey, MD, BSc, CHUV, Pediatric Urology, Lausanne, Switzerland. Email: peter.frey@chuv.ch […]