Andrew Barker

Bleomycin therapy for cystic hygroma

Intralesional bleomycin injection was used as sclerosant therapy for sixteen patients with cystic hygroma. An excellent (complete clinical resolution) response was obtained in seven (44%) patients, a good (> 50% response) result in seven (44%), and a poor or no response in two (12%). Minor transient side effects (fever, vomiting, cellulitis, skin discoloration) were seen in six patients, and there were no serious side effects. The results suggest that bleomycin intralesional sclerosant is effective therapy for cystic hygroma, with response rates comparable to those of surgical removal, but with the advantage of avoiding inadvertent nerve damage and scarring.

Increasing prevalence of hypospadias in Western Australia, 1980-2000

Objectives: Hypospadias, a common birth defect, has shown widespread variation in reported rates and temporal trends across countries over the last 30 years. The aim of this study was to determine the prevalence and trends of hypospadias in an Australian population. Design: Population-based study of all male infants born in Western Australia (WA) between 1980 and 2000 diagnosed with hypospadias and notified to the WA Birth Defects Registry. Main outcome measures: Prevalence of hypospadias, birth outcome and association with other congenital anomalies, stratified by degree-of-severity. Results: 1788 cases of hypospadias were registered in WA in 1980–2000 with an overall prevalence of 34.8 (95% confidence interval (CI): 33.2 to 36.4) cases per 10 000 births. The prevalence increased by 2.0% per annum (95% CI: 1.2% to 2.8%) from 27.9 in 1980 to 43.2 per 10 000 births in 2000 (p<0.001). Hypospadias was mild in 84% of cases, moderate-severe in 11% and unspecified in 5%, with the number of moderate-severe hypospadias almost doubling over time (p<0.01). There were 1465 (82%) cases of isolated hypospadias and 323 (18%) had co-existing anomalies. Infants with co-existing genital (relative risk (RR) 4.5; 95% CI: 3.3 to 6.1) or non-genital (RR 1.5; 95% CI: 1.0 to 2.2) anomalies were more likely to have moderate-severe hypospadias compared with isolated cases. Conclusion: Hypospadias affects one in 231 births and has been reported to have increased significantly over the last 20 years. Future investigation of the aetiology of hypospadias is important to identify potentially modifiable risk factors and ensure optimal male reproductive health in the future.

Parental occupational exposure to potential endocrine disrupting chemicals and risk of hypospadias in infants

Objectives Hypospadias is a urogenital birth defect affecting infant boys. Periconceptual parental occupational exposure to endocrine disrupting chemicals (EDCs) with oestrogenic or anti-androgenic properties may adversely affect male genital development in utero. The aim of this study was to investigate the association between both maternal and paternal occupational exposures to EDCs and hypospadias. Methods This registry-based case–control study considered 1202 cases of hypospadias in children born in Western Australia between 1980 and 2000 and 2583 male controls randomly selected from birth records for whom information regarding parental occupation was available from the Western Australian Maternal and Child Health Research Database. Occupational exposures to seven groups of potential EDCs were independently coded by two researchers according to a validated job–exposure matrix. Results Multivariable analysis showed a strong association with potential maternal occupational exposure to heavy metals with an over twofold increased risk of hypospadias (OR 2.6; 95% CI 1.3 to 5.2), and women exposed to phthalates were more likely to have an affected son (OR 1.2; 95% CI 0.8 to 1.7). Compared with mild or isolated cases, the risks of moderate–severe hypospadias or multiple defects were increased up to two- and fivefold, respectively, with maternal exposure to most types of EDCs. Paternal occupational exposures to polychlorinated organic (OR 1.3; 95% CI 1.0 to 1.8) and bi-phenolic (OR 1.6; 95% CI 1.0 to 2.6) compounds were also possible risk factors. Conclusions Our findings provide preliminary evidence of an association between exposure to EDCs with oestrogenic or anti-androgenic properties and increased risk of hypospadias.

Adrenal cortical tumors in childhood — clinicopathological features of six cases

&NA; Six cases of adrenal cortical tumors are presented with a discussion of the clinical features and histological findings. Five of the 6 children, aged between 6 mths and 6 yrs, presented with symptoms of hyperadrenalism, 4 with virilization and 1 with Cushingoid features. The remaining infant presented with an asymptomatic abdominal mass. In each case there was a unilateral tumor separated from the residual adrenal gland by a thin fibrous capsule. Surgical resection was the treatment employed and, in the 5 cases with functional tumors, perioperative hydrocortisone was given. None of the children received post‐operative chemotherapy or radiotherapy. Bizarre cellular morphology, a high mitotic count and extensive necrosis were all seen in clinically benign disease, demonstrating not only the efficacy of local resection but also the difficulty in applying the usual histological criteria of malignancy to these pediatric adrenal tumors. At follow‐up, 5 of the 6 patients are alive with no evidence of recurrent disease. The only death resulted from measles pneumonitis in the 1 child who presented with Cushings syndrome.

Prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome

A case of prenatal Klippel–Trenaunay–Weber syndrome is presented, with a description of the sonographically observed disease progression in utero. The appearance of a complex thoracic multicystic mass in association with progressive unilateral lower limb enlargement was strongly suspicious of this disorder. Colour‐flow Doppler studies of the cutaneous haemangiomata in utero were not of diagnostic assistance in this case. The prenatal detection of the large cutaneous haemangiomata was of critical importance in minimizing delivery trauma for the mother and fetus. Copyright

Pulmonary Hypertension in Lambs With Congenital Diaphragmatic Hernia: Vasodilator Prostaglandins, Isoprenaline, and Tolazoline

After antenatal induction of diaphragmatic hernias in fetal lambs, prostaglandins D2, E1, and I2 were compared to tolazoline, or isoprenaline, for the treatment of pulmonary hypertension. When rendered hypoxic, these, and normal lambs, showed an increase in pulmonary artery pressure, a decrease in systemic pressure, and a decrease in pulmonary blood flow. All of the drugs altered that response, but to different degrees. None of the drugs tested was consistently successful in reversing the adverse affects of hypoxia, but prostaglandin D2 came closest to the ideal vasodilator, decreasing the pulmonary artery pressure in all seven hypoxic lambs having a diaphragmatic hernia. There was a concomitant increase in pulmonary blood flow in six; in the remaining lamb the decrease in blood flow induced by the hypoxia was arrested. At the same time, there was an increase in systemic artery pressure in three, the decrease was arrested in two, but the decrease continued in the other two. Isoprenaline was a more effective drug than tolazoline, producing an increase in pulmonary blood flow in five of the seven lambs, with minor decreases in systemic pressure in five. Tolazoline improved blood flow in three of six lambs (not all lambs survived the full study), with a marked decrease in systemic pressure in four of them. Prostaglandin D2 seems to be a useful drug for the treatment of patients having diaphragmatic hernias and pulmonary hypertension, and warrants further study. Isoprenaline was the most effective of the readily available drugs tested in this animal model.

Isolated torsion of the fallopian tube in a premenarchal girl

A case is reported of an isolated torsion of the left fallopian tube in a 12-year-old premenarchal girl, and the relevant literature is reviewed. This would seem to be an infrequent cause of acute abdominal pain in girls, and is rarely diagnosed preoperatively. The correct treatment is detorsion of a viable tube, or salpingectomy if ischaemia and necrosis have occurred.

Management of duplex-system ureterocele

To analyse different treatment modalities, functional outcome and continence in children treated for duplex‐system ureterocele and to review the relevant literature.

Timing of morphologic and apoptotic changes in the sheep fetal kidney in response to bladder outflow obstruction.

PURPOSE Posterior urethral valves are the main cause of bladder outflow obstruction in human fetuses. Thirty per cent of boys with valves develop end-stage renal disease, despite intervention in the postnatal period. The timing and mechanisms of renal damage in bladder outflow obstruction are unknown. We investigated the timing of changes in morphology and apoptosis in the fetal sheep kidney in response to obstruction. MATERIALS AND METHODS Thirty-three fetal lambs at day 70 of gestation underwent surgical creation of bladder outflow obstruction. Twenty-nine fetal lambs had sham surgery. Fetal kidneys were collected 2, 5, 10, 20 and 30 days after surgery. Renal histology was examined. Real-time PCR was used to quantify the renal cortical expression of the pro-apoptotic gene Bax and anti-apoptotic gene Bcl-X. The TUNEL technique was used to assess regional renal apoptosis in response to obstruction. RESULTS Changes in renal morphology were evident as early as 2 days after surgery in fetuses with bladder outflow obstruction, and progressed over 20-30 days to cystic renal dysplasia. Bladder outflow obstruction increased the renal cortical expression of Bax relative to Bcl-X. Tubular apoptosis peaked after 2 days of obstruction. Blastemal apoptosis peaked after 5 days of obstruction. CONCLUSIONS Changes in pro- and anti-apoptotic gene expression in the fetal renal cortex, and alterations in the number of apoptotic cells and renal morphology are evident soon after the onset of bladder outflow obstruction. These findings suggest that damage to the developing fetal kidney begins to occur at the onset of obstruction. Attempts to preserve renal function by antenatal interventions may best be achieved by early treatment.

Benign scrotal masses in children – some new lessons learned

INTRODUCTION A preponderance of benign intratesticular masses in pre-pubertal males encourages testicular-sparing surgery (TSS). OBJECTIVE To review outcome of benign testicular lumps in children managed at a tertiary pediatric center more than 7.5years. METHODS A retrospective review of pediatric benign testicular lesions from January 2008 to June 2015 was performed. RESULTS There were twelve benign intratesticular tumors. Of these, 11 were in pre-pubertal males; comprising four teratomas, two epidermoid cysts, one dermoid cyst, two cases of Leydig cell hyperplasia, one cystic dysplasia of the rete testis and one large simple intratesticular cyst. We illustrate a case of Leydig cell hyperplasia presenting with precocious puberty limited to the ipsilateral hemi-scrotum. TSS was attempted in all 11 pre-pubertal cases, but successfully performed in seven. TSS was possible for a large testicular cyst seemingly replacing the entire testis, with evidence that the testis reconstituted itself after surgery. Recurrence of an epidermoid cysts reported. CONCLUSION For the first time in the literature, this series reports Leydig cell hyperplasia presenting with ipsilateral hemi-scrotal changes of precocious puberty; shows evidence that the testis reconstitutes itself after TSS for a large cyst; and reports recurrence of an epidermoid cyst after TSS.