Epigenetic lesions at the H19 locus in Wilms' tumour patients.

To test the potential role of H19 as a tumour suppressor gene we have examined its expression and DNA methylation in Wilms' tumours (WTs). In most WTs (18/25), H19 RNA was reduced at least 20-fold from fetal kidney levels. Of the expression-negative tumours ten retained 11p15.5 heterozygosity: in nine of these, H19 DNA was biallelically hypermethylated and in two cases hypermethylation locally restricted to H19 sequences was also present in the non-neoplastic kidney parenchyma. IGF2 mRNA was expressed in most but not all WTs and expression patterns were consistent with IGF2/H19 enhancer competition without obligate inverse coupling. These observations implicate genetic and epigenetic inactivation of H19 in Wilms' tumorigenesis.

Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation.

We present the first case of a prepubertal male with an abnormality in Leydig cell differentiation resulting in male pseudohermaphroditism. There was no plasma androgen response to im administration of hCG. Leydig cells were not apparently by either light or electron microscopy in tissue obtained from a biopsy of the right testis 96 h after the last dose of hCG. In addition, LH-hCG saturation analyses performed on membrane preparations from the testicular tissue revealed no binding. An expanded classification for male pseudohermaphroditism is presented.

The unheralded hazard of ureterosigmoidostomy.

Patients with ureterosigmoid urinary diversions always have some anal leakage of a malodorous mixture of feces and urine, especially at night or when passing gas. They obtain limited continence only by consciously keeping their buttocks tensed toegher. Their unusually high elimination frequency weds them to a bathroom for the rest of their lives. The universal prevalence of this truly severe burden of liquid fecal incontinence, which a patient is asked to bear after ureterosigmoidostomy diversion, is not well recognized and should be clearly revealed to the patient before a choice of procedure is made.

Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature.

The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome is reviewed.

Gender development in boys born with hypospadias.

Fetal testicular androgens in several mammalian species are responsible for the sexual differentiation of both the genitalia and the brain, the latter effect being related to behavioral sex-dimorphisms. Because prenatal endocrine abnormalities can be inferred from genital defects, studies of individuals born with anomalies potentially elucidate the contribution of androgens to the development of gender-related variation in human behavior. This study concerns the gender-role behavior of middle childhood boys (ages 6-10 years; n = 175) born with hypospadias, an androgen-related genital anomaly. Parents completed standardized gender behavior questionnaires in a postal survey. Hypospadias subjects did not show consistent differences from a community control group (n = 333) in feminine behavior, but significant, small, increases in masculine behavior were found. Severity of the hypospadias was unrelated to gender-role behavior. A number of surgery-related hospitalizations, however, were correlated with increased gender-atypical behavior. It is concluded that the hypoandrogenization associated with hypospadias does not interfere with the development of gender-typical masculine behavior.

Ventilatory and metabolic effects of glucose infusions.

It has been demonstrated that total parenteral nutrition (TPN) results in increased O2 consumption (VO2), CO2 production (VCO2) and minute ventilation (VE). TPN consists of a mixture of glucose and amino acids. The individual role of each of these nutrients in mediating these changes has not been well established. To examine the effects of the individual nutrients, continuous infusions of glucose in hypo- and hypercaloric amounts were given to four normal volunteer subjects and four acutely ill patients for a six-day period, with three days on each dietary intake. After each three-day period, gas exchange, VO2, VCO2, and ventilatory variables (VE), tidal volume (VT), frequency (f), mean inspiratory flow (VT/TI), inspiratory time (TI) and expiratory time (TE) were measured. With the high carbohydrate diet, CO2 production increased 18 percent (p greater than .05) and 7 percent (p greater than .05) in the normal subjects and the patients, respectively. VO2 did not change, while the RQ rose. VE rose in parallel with VCO2, with no significant change in ventilatory sensitivity to CO2. In light of previous observations, these results suggest that during administration of TPN, the protein component plays a major role in the observed ventilatory changes: a) by bringing about a rise in VO2, which acts to magnify the effect of an increased RQ on VCO2, and b) by increasing ventilatory sensitivity to CO2.

Parameatal ducts of glans penis. Structure, symptoms, and treatment of uncommon focus of infection.

It has been shown that persistent penile irritation and purulent discharge from around the urethral meatus may rarely be caused by inflammation of tiny tubular structures previously known as paraurethral ducts. They appear to be rare embryologic remnants which can be involved in the venereal disease complex. Local excision is the appropriate treatment if symptoms are not responsive to antibiotic therapy.

Sipple's syndrome. A urologist's viewpoint.

A case of Sipple's syndrome, a triad of medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid hyperplasia is presented. The cause, laboratory diagnosis, and operative management of the syndrome are discussed. The need for thorough endocrine screening of patients with pheochromocytoma and family screening of patients with the full syndrome is stressed.

Anterior urethral polyp associated with hematuria in six-year-old child.

Anterior urethral polyps are rare, occur only in male patients, and have been associated with obstruction, terminal hematuria, and enuresis. We believe this is the fifth reported case of anterior urethral polyp associated with terminal hematuria. The radiographic findings, treatment, and pathology are reviewed.

Renal artery thrombosis in the newborn infant.

Renal artery thrombosis is rarely encountered in the pediatric population. The recent literature associates its occurrence with the use of umbilical artery catheterization. This report describes renal artery occlusion in 2 patients with severe cardiac disease who developed renal artery thrombosis a few weeks after birth. One patient had undergone umbilical artery catheterization months before he developed the renal artery occlusion. The second patient never had umbilical artery catheterization. Neither patient recovered renal function in the affected kidney despite systemic anticoagulation.

Visual urethrotomy in management of male urethral duplication.

Anatomically, three types of urethral duplication have been described: Type I or complete urethral duplication, Type II which includes multiple variations of bifid urethra, and Type III, those urethral duplications with a perineal opening. A new, simplified approach to the management of some Type II urethral duplications is described, using the pediatric cold-knife visual urethrotome. This technique provides a maximally patent urethra, while removing the site of chronic refractory infection, and minimizing both morbidity and patient hospitalization. Alternatives for treatment of Type I and Type III urethral duplications also are discussed.

Percutaneous transvesical ureteroscopy for removal of distal ureteral stone in reimplanted ureter.

In the past two decades, the widespread use of cross-trigonal ureteral reimplants for the treatment of children with vesicoureteral reflux has resulted in a large population of patients with transversely lying ureters. As this population gets older they will consequently be entering an age group at higher risk for stone and urothelial cancer formation, with the potential for diagnostic and/or therapeutic ureteroscopy. The anatomic orientation of the ureters resulting from a cross-trigonal reimplantation may create difficulty or even inability to perform transurethral ureteroscopy. This case presents the technique of percutaneous transvesical ureteroscopy for stone extraction in a seventeen-year-old male with a lower ureteral stone following cross-trigonal ureteral reimplantation. The described technique may serve as an addition to the current endoscopic methods.

Benign scrotal tumors masquerading as expanding varicoceles.

Vascular lesions of the scrotum though most often varicoceles, can occasionally represent either benign or malignant tumors containing vascular elements. Two pediatric patients presenting with vascular scrotal masses resembling varicoceles are reported. Histologic interpretation of the operative specimens demonstrated benign tumors of the scrotum. Hemangiomas, hamartomas, or mesenchymal tumors should be especially suspect in the presence of any vascular right scrotal lesion. Because of the infrequency of prepubertal varicoceles, any vascular lesion of the scrotum in this age group should undergo biopsy before simple excision is performed to rule out the presence of malignancy. Early excision of benign mesenchymal tumors is especially important if, as some believe, they eventually dedifferentiate to more malignant tumors later in the lifetime of an individual.

Outpatient surgery in pediatric urology patient.

Outpatient surgery in children with straightforward surgical problems has proved to be safe and cost effective. We have analyzed our experience in 138 consecutive "short-stay" surgical patients in terms of (1) cost effectiveness, (2) surgical procedure, and (3) complications. Selection of a patient for outpatient surgery requires a thorough preoperative evaluation as well as close cooperation between surgeon, anesthesiologist, and operating room staff.

Rapid construction of right colon pouch: initial clinical experience.

Between December 1992 and July 1993, 7 patients who underwent urinary diversion after cystectomy or bladder augmentation had colon pouches constructed with an "absorbable" staple. Our "one-step" technique of colon pouch construction incorporates standard principles of bowel detubularization and refashioning using absorbable GIA staples. The technique is easily learned and decreases operative time and blood loss. Herein we report follow-up of the first 7 patients undergoing this modification.

Urologic manifestations of Wegener granulomatosis.

Wegener granulomatosis is a disease characterized by necrotizing granulomatous angiitis involving the upper and lower respiratory tracts and the kidneys. The introduction of cyclophosphamide in the treatment of Wegener granulomatosis has dramatically altered the rapidly fatal course of the disease and has altered our thinking regarding its management. Recently we have cared for 3 patients who demonstrated a dramatic spectrum of urinary tract pathology related to Wegener granulomatosis. The cases presented offer three points for consideration by the urologist: (1) the manifestations of the disease in the genitourinary tract can be varied and can present in a dramatic fashion; (2) the rapid progression of renal failure and the nearly uniform mortality associated with the disease have changed largely because of the use of cyclophosphamide; and (3) our approach toward patients with renal failure on the basis of Wegener granulomatosis can be altered, and renal transplantation is certainly feasible with the increased longevity afforded these patients by cyclophosphamide.

Congenital urethral-perineal fistula: diagnosis and new surgical management.

Congenital posterior urethral-perineal fistula is a rare anomaly of which there have been only 6 reported cases to date. This report outlines the clinical presentation of another case and a unique surgical approach to its management, as well as a review of the English literature.

Testicular biopsy and occult tumor in acute lymphocytic leukemia.

Testicular biopsy has become a routine procedure before discontinuing chemotherapy in male children being treated for acute lymphocytic leukemia (ALL). Before a decision can be made to discontinue multiple drug therapy, all possible sites of occult tumor such as the testis, cerebrospinal fluid, and bone marrow must be sampled. Between December, 1978, and November, 1981, 25 male children underwent testicular biopsies after two or more years of combination chemotherapy at the Babies Hospital, Columbia-Presbyterian Medical Center. Only 3 of the 25 patients (12%) were found to have leukemic infiltrates on histologic sections. Two of 3 patients, however, were noted preoperatively to have either irregular testicular contours or testicular enlargement and induration. Occult testicular infiltration discovered after two or more years of chemotherapy is rare. Most children with a histologically positive biopsy result were at least suspected preoperatively to have testicular involvement.

Renal pelvic tumors in childhood.

A capillary hemangioma in the renal pelvis of a twelve-year-old child is presented. The diagnosis and management of renal pelvic tumors in childhood is reviewed. We believe this pathologic entity should be included in the differential diagnosis of hematuria and ureteropelvic junction obstruction in a child.

Testicular dysmorphism associated with abdominoscrotal hydroceles during infancy.

Abdominoscrotal hydrocele (ASH) in infancy is a rarely reported condition. We present an 11-week-old infant who was born with massive scrotal enlargement. At exploration, he was found to have large bilateral ASHs and bilateral fusiform testes. Gross morphologic testicular changes associated with hydrocele have previously only been reported in adults. Our patient is the youngest to be reported with ASHs.