Perineal hypospadias: back to the future Chordee Excision & Distal Urethroplasty.

PURPOSE: Perineal hypospadias correction has swung from two-stage repair in the 1960s to one-stage repair in the 1980s and back to two-stage repair in the 2000s. The author's experience with a technique in which Chordee Excision and Distal Urethroplasty (CEDU) was performed at the first operation leaving a 1-cm segment as perineal urethrotomy to be reconstructed at the second operation is presented. PATIENTS AND METHODS: Between January 2013 and December 2016, the CEDU technique was performed in 63 patients with perineal hypospadias. The records of 59 patients who maintained regular follow-up were reviewed. The principle is to excise the hypoplastic urethral plate, atretic corpus spongiosum, and longitudinal layer of tunica albuginea; split the glans in the midline; and reconstruct a healthy urethral plate using preputial and lateral skin flaps to the tip of the glans. Distal urethroplasty was performed leaving 1 cm at the proximal end to be reconstructed 3-6 months later. This principle was used by Duplay in the 1880s. Patient age ranged between 6 months and 2 years (mean 8 months). All the patients had perineal hypospadias and bifid scrotum with severe deep chordee. Follow-up period ranged from 17 to 53 months (mean 36). A transurethral Silastic catheter was inserted for 4 days. Three months later, the remaining 1 cm of the new urethra was reconstructed, and final adjustment of the glans and foreskin was performed. RESULTS: Satisfactory results were obtained in 54 patients (90%). Three children experienced glans dehiscence that was corrected in the second stage, one child developed fistula after the second operation, and one developed diverticulum. The fistula and diverticulum were corrected at the third operation successfully. DISCUSSION: It was necessary in this series to divide the urethral plate and excise the hypoplastic corpus spongiosum and the outer longitudinal layer of tunica albuginea to correct the associated deep chordee. The lateral skin flaps receive double blood supply from the base of the penis and the preputial vessels. This natural urinary diversion allows early removal of the catheter, reduces the discomfort of the patient, and allows the new urethra to heal without urine irritation for 3 months. Long-term follow-up for 15 years is necessary to assess the technique objectively. CONCLUSIONS: The CEDU technique diverts urine away from the site of urethroplasty for 3 months without a catheter. It reduces the hospital stay and patient discomfort. It produces satisfactory results and has become a the standard technique in perineal hypospadias.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

CONTEXT: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: The objective of the study was to clarify this discrepancy by in vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. DESIGN: Quantification of DHT-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GFs) (APOD assay) and next-generation sequencing of the complete coding and noncoding AR locus. SETTING: The study was conducted at a university hospital endocrine research laboratory. PATIENTS: GFs from 169 individuals were studied encompassing control males (n = 68), molecular defined DSD other than androgen insensitivity syndrome (AIS; n = 18), AR mutation-positive AIS (n = 37), and previously undiagnosed DSD including patients with a clinical suspicion of AIS (n = 46). INTERVENTION(S): There were no interventions. MAIN OUTCOME MEASURE(S): DHT-dependent APOD expression in cultured GF and AR mutation status in 169 individuals was measured. RESULTS: The APOD assay clearly separated control individuals (healthy males and molecular defined DSD patients other than AIS) from genetically proven AIS (cutoff < 2.3-fold APOD-induction; 100% sensitivity, 93.3% specificity, P < .0001). Of 46 DSD individuals with no AR mutation, 17 (37%) fell below the cutoff, indicating disrupted androgen signaling. CONCLUSIONS: AR mutation-positive AIS can be reliably identified by the APOD assay. Its combination with next-generation sequencing of the AR locus uncovered an AR mutation-negative, new class of androgen resistance, which we propose to name AIS type II. Our data support the existence of cellular components outside the AR affecting androgen signaling during sexual differentiation with high clinical relevance.

Long oesophageal gaps - a new surgical technique: an experimental study on lambs.

AIM: The management of long gap oesophageal atresia remains a major challenge for the paediatric surgeon. In this experimental study on neonatal lambs, a Silastic tube was used to bridge a gap in the oesophagus. The Silastic tube was not fixed to the oesophageal edges but half a centimetre from the edge of the oesophagus. The oesophageal edges were left free to grow over the Silastic tube and bridge the gap. The aim of the study was to see whether the oesophageal edges would grow over the Silastic tube and form a continuous oesophagus. METHODS: Twelve neonatal lambs were included in the study. They were divided into 3 groups: Group A (control group) included 3 lambs where the oesophagus was transacted and anastomosed without excision of an oesophageal segment. Group B included 6 lambs where a wedge of the oesophagus was excised and a Silastic tube fixed to the inner mucosa. The oesophageal edges were in contact on one side. In group C (3 lambs), a 2-cm cylinder of the oesophagus was excised, a Silastic tube was fixed to the inner mucosa and a gap of 2 cm was left between the oesophageal edges. The lambs were sacrificed at two weeks to five weeks postoperatively. RESULTS: There was no mortality, no anastomotic leakage and no wound infection in any of the lambs. The oesphageal edges grew and bridged the gap and formed a continuous tube. Histological examination showed new muscle fibres underneath the new mucosa. All lambs with Silastic tubes gained weight. Two lambs developed moderate to severe stricture. CONCLUSION: The present study demonstrated the possibility of oesophageal growth over a Silastic tube to form a continuous oesophagus. Histological examination confirmed oesophageal growth and not healing through fibrous tissue. Further studies are needed to evaluate the technique in the thoracic oesophagus with long-term follow-up.

An external device for faecal incontinence.

AIM: The aim of the study was to describe a simple external device that enables the incontinent patient to control the time, frequency and place of defecation. PRINCIPLE: The device is based on the principle of a "ball & socket" valve. The "ball" is an inflatable silastic balloon while the "socket" is the anorectal junction. The device can be used with minor modifications in patients with terminal colostomy to make them continent and avoid the need for colostomy bags. PATIENTS AND METHODS: The inflatable plug has been used successfully in eighteen incontinent children for a period ranging from six months to 8 years. The child decides the amount of air inside the inflatable plug that is comfortable and yet adequate to prevent soiling. This usually ranged between 10 to 25 cm of air. RESULTS AND COMPLICATIONS: To date, the device has been manufactured manually. All the children tolerated the plug without discomfort. Deflation of the balloon occurred after 3 - 5 days of use due to defective manufacturing. None of the patients developed ischaemia of the bowel or skin excoriations. CONCLUSION: This conservative, simple, inflatable plug enhances both qualitative and quantitative faecal continence in children with faecal soiling. An improvement in quality of life was also perceived by the patients and their parents. Better manufacturing may improve the results.

A technique to improve vascularity in colon replacement of the esophagus.

OBJECTIVE: The aim of this study was to present a simple method to improve the results of colon replacement of the esophagus in children with post-corrosive esophageal stricture or long gap esophageal atresia. TECHNIQUE: At the gastrostomy operation, the abdomen and colon are explored and the segment of colon to be used for replacement is chosen. The trunk of the middle colic artery supplying the transverse colon is ligated and divided proximally to the marginal artery or, if another segment of the colon is chosen, the corresponding vessel is ligated. METHODS: Between November 1999 and October 2002, 11 children had their middle colic vessels ligated during a gastrostomy operation. They were six boys and five girls. Five neonates had long gap esophageal atresia with or without fistula. The other 6 had long segment esophageal stricture due to swallowing caustic potash. Their ages ranged from one day to 40 months. The hospital stay ranged from 10 to 14 days. The interval between vascular ligation and the replacement was one to three months, depending on the general condition of the patient. The follow-up period was between 21 and 56 months. RESULTS: After the definitive operation for colon replacement of the esophagus, the children resumed feeding through the gastrostomy on day five. They were fed by mouth from day eight and all had returned home by day 15. COMPLICATIONS: There was no wound infection, no fistula, or chest complications. One patient developed stricture at the colo-esophageal anastomosis two months after surgery. The esophageal anastomosis was excised six months after the colon interposition surgery and re-anastomosis was performed through the same neck incision, after which the patient was sent home seven days later. CONCLUSIONS: Ligation of the middle colic vessels during the gastrostomy operation increases the blood supply to the transverse colon through the left upper colic and marginal vessels. This adds an extra ten minutes to the gastrostomy operation. This technique has increased the success rate in colonic replacement and minimized morbidity in our unit. Although the principle is commonly used in plastic surgery in pedicled flap reconstruction and in pediatric surgery for high abdominal testis (Fowler Stephens procedure), to our knowledge, this has never been applied in intestinal surgery before.

Childhood intussusception: a comparative study of nonsurgical management.

PURPOSE: A prospective study was conducted comparing air reduction, barium reduction under fluoroscopy, and saline reduction under ultrasound guidance for diagnosis and treatment of intussusception involved in 147 patients. METHODS: Fifty children received air reduction (AR group), 50 received barium enema reduction (BE group) and 47 received saline reduction under ultrasound guidance (US group). Nonoperative management was attempted if there was a history of less than 48 hours; absence of general or abdominal signs of toxicity, peritonism, or peritonitis, and reasonable blood electrolyte levels (K, 3 to 5 mmol/L; Na, 130 to 150 mmol/L). RESULTS: Group AR had successful outcome in 45 of 50 children (90%); BE had successful outcome in 35 of 50 children (70%), and US had successful outcome in 32 of 47 children (67%). This 20% to 23% success rate difference between air reduction and the other two techniques (BE and US) was statistically significant (P = .01). There was no significant difference between BE and US saline (P > or = .05). There were no perforations encountered in AR patients, three perforations in BE patients, and two perforations in US patients. There was no mortality. CONCLUSIONS: Air reduction seems to be associated with fewer complications and the highest success rate. Proper selection of patients is crucial to achieve a high success rate and to minimise complications.

Congenital malformations of the hand. A study of the vascular pattern.

Sixty-five children with 76 hand anomalies had brachial angiography performed to help plan appropriate surgical management. Three different methods of angiography were used. The study showed that the direct exposure method is safe and simple, has few complications and gives the best visualisation of the arterial supply of the hand. It also showed that each type of congenital hand deformity is frequently associated with specific vascular alterations. Angiography is an important and safe investigation in the pre-operative assessment of cases of complex congenital hand deformities.