A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome.

Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS.

Laparoscopic pyeloplasty for children with pelvic ureteric junction obstruction: an institutional experience.

AIMS AND OBJECTIVES: To give a report of 36 consecutive children who underwent laparoscopic Anderson-Hynes dismembered pyeloplasty by a single lead surgeon. PATIENTS AND METHODS: The diagnosis of pelviureteric junction obstruction was firmly established in all patients based on history, clinical examination, renal sonography and scintigraphy. Transperitoneal laparoscopic Anderson-Hynes pyeloplasty was performed in all the patients. Age at surgery, duration of operation, complications and outcome were documented. Children were followed up for symptoms, and diuretics renography was repeated at 3 months. RESULTS: A total of 36 children 5 months to 11 years (25 boys and 11 girls) under- went laparoscopic Anderson- Hynes pyeloplasty over a 4- year period. Mean age at surgery was 41 months (range 7 to 144). Seventeen (47%) cases were antenatally diagnosed. The mean operating time was 247 min. No patient required blood transfusion, and there were no intra-operative complications. The mean postoperative hospital stay was 5.8 days. There were 7 postoperative complications including urinary tract infection (n=6) and shoulder pain (n=1). The symptoms improved in 32(89%) children. There were 3 conversions, 2 due to non rotated kidney and one due to double right moiety. One child had failed pyeloplasty with deteriorating renal function. He had a redo open pyeloplasty. The mean split renal function before surgery and at follow up diuretic scan was 36.2 vs 42.1, P=0.001. The mean follow up period was 30 months. CONCLUSION: Laparoscopic Anderson-Hynes pyeloplasty is safe and effective in the management of children with pelvi-ureteric junction obstruction.

A safer way of suturing in Foker's technique.

BACKGROUND/PURPOSE: Foker's technique allows esophageal lengthening facilitating end to end anastomosis in long gap esophageal atresia. The problem faced with this technique is that the traction sutures cut through the tissues leading to re-operations. Our aim was to find a technique of suturing that will prevent the sutures from cutting through the esophagus. METHODS: After dissection of the upper and lower esophageal pouches, purse string sutures were placed, two each on both pouches. Clips were applied at the ends of both the pouches. Sutures were brought out on the posterior chest wall and traction applied. This was tried in a total of three cases. Case 1 was a newborn with pure esophageal atresia, Case 2 was an eighteen month old child with cervical esophagostomy and gastrostomy, and Case 3 had esophageal atresia with distal fistula. Two cases were done thoracoscopically and the third one by thoracotomy. RESULTS: In all three cases sutures held and lengthening could be obtained. In the first case it took twelve days, in the second case six days, and in third case eight days for the ends to come together. CONCLUSION: This modification of traction sutures is simple and reduces the risk of suture disruption.

An unusual variant of urethral duplication: an addition to the Effman classification.

A rare association of horseshoe kidney with pyelic fusion with crossed single ureter along with a rare unusual variant of complete urethral duplication is described. We review the available literature on this rare association and present its management.

Laparoscopic inguinal hernia repair in children: a single-centre experience over 7 years.

BACKGROUND: To evaluate 209 consecutive children who underwent laparoscopic hernia repair over a 7-year period. Technical details and clinical results are reported. MATERIALS AND METHODS: A total of 284 open internal rings were closed laparoscopically in 209 children (142 boys and 67 girls, aged 30 days to 15 years, mean 44 months). One 5-mm and two 3-mm instruments were used to access the peritoneal cavity. A 270° anterolateral peritoneal incision was made. The internal inguinal ring was closed with a nonabsorbable suture. RESULTS: There were no significant intraoperative complications. Length of procedure ranged between 15 and 65 minutes with a mean of 30 minutes. Postoperative hospital stay ranged from 1 to 9 days. Thirty children who presented with a right-sided hernia and 23 with a left hernia (total of 53) were found to have a patent contralateral internal ring on laparoscopy. Mean follow-up was 30 months. There were 2.4% hernia recurrences and cosmesis was excellent. CONCLUSIONS: Laparoscopic hernia repair in children can be a routine procedure with increasing experience and better learning curve of surgeons. There is clear visualization of structures and vas remains untouched. The recurrence rate is comparable to that of the traditional open approach with a superior cosmetic result.

Role of alpha adrenergic blocker in the management of posterior urethral valves.

PURPOSE: To evaluate the effect of Terazosin (alpha1 adrenergic blocker) on bladder emptying in children with posterior urethral valves. MATERIALS AND METHODS: Forty-two children with significant post void residual urine after valves ablation were placed on Terazosin ranging from 0.25 to 2 mg. Post void urine at the commencement and at follow up was monitored with abdominal ultrasound. RESULTS: Post void residual urine significantly reduced in 40 patients (95%) who were put on Terazosin. Mean pretreatment PVR was 15.7 ml and mean PVR at the last follow up was 2.4 ml (P = 0.000). This was a reduction of 85% in the pretreatment post void residual urine volume. All the patients had improvement in urinary stream. One patient reacted to Terazosin with hypotension necessitating its withdrawal. Mean follow up was 17 months. CONCLUSION: Terazosin has proved to be safe and results in significant improvement in bladder emptying in our patients with posterior urethral valves. Randomized controlled trial and long-term follow up are necessary to further define the role of alpha1 adrenergic blocker therapy in children with posterior urethral valves. This study will become the justification for such a study.

Posterior urethral valves: a single center experience over 7 years.

PURPOSE: To evaluate the outcome of management of 65 consecutive children with posterior urethral valves (PUV) using two techniques of valves ablation. METHODS: Retrospective review of 65 consecutive children with PUV managed over 7 years. There were two groups based on the methods of valves ablation: either Mohan's urethral valvotome for primary cases or electrocautery fulguration for patient with previous intervention. Serum electrolyte and serial post-void residue (PVR) were monitored in outpatient clinic. Alpha-blockers were started in all cases with high PVR. Management outcome of patient who had valves ablation with Mohan's valvotome were compared with those who had endoscopy fulguration. RESULTS: Sixty-one patients were regular on follow-up with a median age at presentation of 45 days. Nineteen (31%) patients were diagnosed antenatally. There were 32 refluxing ureters in 26 patients; 58 (95%) underwent primary valve ablation (37 with Mohan's urethral valvotome, 21 fulguration). Reflux disappeared in 10 (36%) refluxing ureters. There were five (8.2%) urethral strictures (all five in fulguration group), eight residual valves (four in each group), and three recurrent urinary tract infections. Three patients had nephrectomy and one patient had renal transplantation. There was no death. The mean serum creatinine for all the patients at presentation and at the last follow-up were 1.2 and 0.5 mg/dl, respectively (P = 0.031). At follow-up, mean PVR of valvotome group was 2.5 ml and fulguration group was 2 ml (P = 0.282). The median follow-up period was 24 months. CONCLUSIONS: Early ablation of PUV and detailed attention to bladder management gives a better outcome. With Mohan's valvotome incidence of stricture is less and incidence of residual valves is comparable to endoscopic ablation of PUV.