Cowper's gland syringocele in an adult: The great imitator.

Cowper's gland syringocele (CGS) is the cystic dilation of its duct. It is an uncommon urological condition and is thought to be more commonly encountered in pediatric urology. However, it is in adults that CGS poses a diagnostic challenge because of its "chameleon-like" clinical presentation that may masquerade multiple urological etiologies. In this population, where urological conditions are more prevalent, CGS may present as bladder outlet obstruction, recurrent urinary tract infections, gross hematuria, urinary retention, perineal pain, or abscess.

Differences in Clinical Characteristics Between Prepubescent and Postpubescent Males With Testicular Torsion.

Testicular torsion represents a pediatric surgical emergency. In this 6-year study with 140 patients, prepubescent (<13 years) and postpubescent (≥13 years) males with testicular torsion were identified. Prepubescent boys had a longer symptom duration (P = .016) and underwent more orchiectomies (P = .005) compared with postpubescent boys. The risk of orchiectomy decreased by 15% per 1-year increase in age (P = .002). Boys who underwent an orchiectomy had a longer symptom duration (P < .001), were younger (P = .002), had scrotal swelling (P = .001), scrotal erythema (P < .001), higher degrees of torsion (P = .036), and more left-sided surgeries (P = .014) compared with those who had an orchiopexy. Postpubescent boys were 63% less likely to receive an orchiectomy versus an orchiopexy compared with prepubescent boys. Pediatricians should be cognizant of the age discrepancies between prepubescent and postpubescent males with testicular torsion and educate parents about the importance of urgent evaluation in the Emergency Department to reduce the likelihood of an orchiectomy.

Impact of Distance From the Hospital and Patient Transfer on Pediatric Testicular Torsion Outcomes.

BACKGROUND: Testicular torsion is the most common pediatric emergency that requires prompt diagnosis and surgical treatment to prevent testicular loss. Distance from the hospital where the patient will be undergoing treatment for testicular torsion and transfer from an outside facility are factors that may impact whether a testis is salvageable. We sought to determine whether these factors play a role in pediatric testicular torsion outcomes.  Materials and Methods: We identified males aged 1-18 years with testicular torsion between January 1, 2015 and December 31, 2020. The patients' distance from our hospital and whether they were transferred from an outlying hospital were a particular focus.  Results: The number of miles from our hospital and transfer from an outlying hospital were not significantly different between boys who underwent an orchiectomy versus an orchiopexy (p=0.258 and p=0.574, respectively). The number of miles from our hospital was negatively correlated to age at surgery (rho=-0.22, p=0.01). Significantly (p<0.001) more transfers were seen in patients who lived far (>22.1 miles) from our hospital (32/69 (46%)) versus near our hospital (10/68 (15%)). For every mile boys lived from our hospital, there was no difference (adjusted odds ratio (OR)=0.98 (0.96, 1.00), p=0.10) in the likelihood of receiving an orchiectomy versus an orchiopexy when adjusting for age, symptom duration, and degrees of torsion. CONCLUSIONS: Our study determined that neither distance from our hospital nor transfer from an outlying hospital affected the orchiectomy rate. An expedited medical evaluation and surgery offer the best prognosis for salvaging the testes.

Sonography Findings Predict Testicular Viability in Pediatric Patients With Testicular Torsion.

BACKGROUND: Testicular torsion poses a pediatric surgical emergency that necessitates rapid diagnosis and surgery to prevent testicular loss. We sought to determine whether any particular findings on Doppler ultrasound (US) were predictive of testicular viability in pediatric patients with testicular torsion. MATERIALS AND METHODS: We identified males between ages one and 18 years who experienced testicular torsion over a six-year period (January 1, 2015-December 31, 2020). All patients were evaluated at our institution's emergency department by a pediatric urologist and underwent a Doppler scrotal US. RESULTS: Of the 140 patients with testicular torsion, 56 (40%) had a non-viable testis and underwent an orchiectomy, while 84 (60%) had a viable testis and orchiopexy. Testicular heterogeneity (47 [84%] vs 48 [57%], p = 0.001), epididymis heterogeneity (23 [41%] vs 21 [25%], p = 0.063), and scrotal wall thickening (25 [45%] vs 5 [6%], p < 0.001) were significantly associated with a non-viable testis. Epididymis heterogeneity (adj. odds ratio [OR] = 0.33 [0.13, 0.79], p = 0.013) and scrotal wall thickening (adj. OR = 0.08 [0.03, 0.24], p < 0.001) exhibited significantly lower odds for viability. Testicular heterogeneity and scrotal wall thickening were more likely to develop with a longer duration of symptoms (both p < 0.001). CONCLUSION: Our study determined that certain Doppler scrotal US findings, specifically, testicular and epididymal heterogeneity as well as a thickened scrotal wall, are associated with testicular demise in patients with testicular torsion. As testicular heterogeneity and scrotal wall thickening are more likely to arise with a longer symptom duration, an urgent diagnosis and prompt surgical intervention are imperative to avert testicular loss.

Surge in testicular torsion in pediatric patients during the COVID-19 pandemic.

BACKGROUND: Testicular torsion is a pediatric surgical emergency, and prompt diagnosis and treatment is imperative. During the COVID-19 pandemic, pediatric patients with symptoms of testicular torsion may be reluctant to seek medical care which increases the likelihood of delayed presentation and the need for an orchiectomy. This observational study sought to determine whether there was a higher number of testicular torsion cases during COVID-19. METHODS: As the first patient with COVID-19 was admitted to our facility on March 6, 2020, we identified male children ages 1-18 years with testicular torsion between March 1-December 31, 2020 (during COVID-19) compared to the same time period between 2015 and 2019 (prior to COVID-19). All patients were evaluated at our Institution's Emergency Department by a pediatric urologist. RESULTS: There were 38 cases of testicular torsion between March 1-December 31, 2020 compared to 15.8 cases on average during the same 10-month period between 2015 and 2019 (a total of 79 cases). There was a statistically significant increase in testicular torsion cases during the COVID-19 pandemic compared to equivalent time periods in 2015-2019 (38 vs. 15.8, p = 0.05). Patients with testicular torsion during the COVID-19 pandemic were younger, had a longer duration of symptoms, and had a higher number of orchiectomies (although not statistically significant). CONCLUSION: During the COVID-19 pandemic, an escalation in testicular torsion cases was observed. Timely assessment, diagnosis, and surgery are crucial to prevent testicular loss and potential infertility in the future. Further evaluation is needed to elucidate the surge in testicular torsion and possible mechanisms.

Testicular Torsion in Patients With Intellectual and Developmental Disabilities.

Patients with intellectual/developmental disabilities are at risk of delayed diagnosis of testicular torsion due to their inability to effectively communicate their symptoms. We identified males ages 1 to 18 years with testicular torsion between January 1, 2015 and December 31, 2020, focusing on patients with intellectual and/or developmental disabilities. Of the 140 patients with testicular torsion, 5 (3.6%) patients exhibited intellectual/developmental disabilities with an inability to effectively verbalize testicular/groin/scrotal pain. The patients with intellectual/developmental disabilities underwent more orchiectomies (5/5, 100%, P = .009) and had a longer duration of symptoms (median = 48 hours, P = .047) compared to those without intellectual/developmental disabilities (51/135, 38% and median = 9 hours, respectively) (51/134, 38%) (P = .038). Parents and other caregivers of males with intellectual/developmental disabilities who are unable to adequately verbalize their testicular/groin/scrotal pain should be cognizant of the signs and symptoms associated with testicular torsion, perform a genitalia examination, and seek an immediate evaluation to diagnose and treat this urgent condition.

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome.

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

Case Report: Rare Presentation of Mixed Germ Cell Tumor in an Infant.

The estimated incidence of pediatric testis tumor is 0.5-2.0 per 100,000 children, accounting for 1-2% of all pediatric tumors. Mixed germ cell tumors (MGCT) in prepubertal males are exceedingly rare, with only one previous case report found in the literature. We report a case of a MGCT in an infant. For prepubertal males, GCTs typically present with a painless scrotal mass, though trauma, testis torsion and hydrocele are also common presentations. Similar to such tumors in postpubertal males, ultrasonography, computed tomography, and tumor markers are integral to determine the best treatment. The patient described in this report presented with a painless scrotal mass. Following orchiectomy, the patient was found to have MGCT that was limited to the testis. With prudent management, these patients tend to have favorable prognoses.

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations.

OBJECTIVES: Occult spinal dysraphism is a congenital failure of fusion of the posterior vertebral arches with intact skin overlying the defect. Lumbosacral cutaneous manifestations are associated with a variable risk of occult spinal dysraphism. Tethered cord syndrome is a type of occult spinal dysraphism that puts abnormal traction on the spinal cord. This study analyzed neonates and infants who were referred to our pediatric urology practice and had evidence of lumbosacral cutaneous manifestation on physical examination. METHODS: We reviewed the presence of lumbosacral cutaneous manifestations in neonates and infants evaluated in our pediatric urology clinic at our Institution over a 6-year period (1 March, 2015-28 February, 2021) with no prior diagnosis of lumbosacral cutaneous manifestation. All patients underwent a spinal ultrasound. RESULTS: The most common lumbosacral cutaneous manifestations were bifurcated/duplicated gluteal folds (33%), gluteal asymmetry (19%), and sacral dimples (14%). A total of 34 (24%) patients had an abnormal spinal ultrasound; 15 (44%) of these infants underwent a lumbar magnetic resonance imaging. A coccygeal pit was statistically marginally higher in abnormal versus normal spinal ultrasound (p = 0.07). Patients with only one lumbosacral cutaneous manifestation (N = 121) were significantly more likely to have a normal spinal ultrasound compared to those with two or more lumbosacral cutaneous manifestation (N = 17) (79% vs 53%, p = 0.03). CONCLUSION: Due to the varying risk of certain lumbosacral cutaneous manifestations with occult spinal dysraphism, all patients with a lumbosacral cutaneous manifestation should undergo spinal ultrasound. This study also highlights the importance of urodynamic studies when there are abnormal cutaneous findings. Routine physical examinations of the lumbar region for cutaneous manifestations of occult spinal dysraphism are vital to ensure prompt management of tethered cord syndrome and avoid potentially devastating consequences.

Conservative Management for Urethral Foreign Body: A Case Report of an Adolescent Boy With Repeated Events.

Placing foreign bodies into the urethra is not a common occurrence in the general population. Patients self-insert foreign bodies for a multitude of reasons such as sexual gratification, secondary gain, and psychiatric illness. From our own experience and what has been reported in the literature, there is a wide variability in the type of objects that patients place into the urethra. We report a unique case of a 17-year-old adolescent boy with repeated foreign body insertions into the urethra over a 1-year period. This patient suffers from significant psychiatric illness. Due to the number of events in this past year, we initiated a conservative observational approach that contrasts the traditional invasive protocol to treat with endoscopic removal. This management has proven to be successful in his case and can be replicated in other scenarios after careful consideration of the clinical presentation.

Urological Evidence of Tick Bites in Children.

ABSTRACT: Ticks pose a serious threat to individuals of all ages owing to numerous physical illnesses including chills, aches, and a rash. Tick-borne illnesses range from a mild fever that may be treated at home to a severe disease necessitating hospitalization. Children are at an increased risk of tick bites owing to to their exposure to tick-infested areas during the summer. We report 2 cases of boys aged 3 and 8 years who sustained tick bites to the hemiscrotum and penis. Overnight hospitalization and a course of antibiotics were mandatory. In the first case, the child experienced significant scrotal cellulitis with erythema and edema extending to the suprapubic area with induration of the right anterior scrotum at the site of the tick bite. A scrotal ultrasound demonstrated swelling of the scrotal wall. In the second case, considerable swelling and induration of the distal penis and glans, pruritis of the left groin and penis, and an erythematous rash over the entire anterior pelvis were observed. A high index of suspicion is warranted because a tick bite may present as penile edema. Pediatric emergency physicians should be aware of the risks associated with tick bites and accurately diagnose and initiate treatment to prevent morbidity and mortality.

Challenges in the Prenatal Diagnosis of Cloaca.

BACKGROUND: Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts. METHODS: We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios. RESULTS: A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca. CONCLUSION: Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.

Delayed Presentation of Urethral Valves: A Diagnosis That Should Be Suspected Despite a Normal Prenatal Ultrasound.

Background. Congenital urethral obstruction occurs most frequently as a result of urethral valves. The diagnosis is usually confirmed pre- or neonatally. Though not ideal, delayed diagnosis can occur in childhood, adolescence, or adulthood. Despite a normal prenatal ultrasound, there may still be a delayed diagnosis of urethral valves. Methods. We present 4 patients with delayed diagnosis of posterior urethral valves (PUV) and 1 patient with delayed diagnosis of anterior urethral valves (AUV) who were evaluated by a pediatric urologist at our Institution. We determined the age and symptoms at presentation, physical examination, micturating cystourethrogram (MCU) findings prior to the valve ablation, renal function before and after valve ablation, type of valve ablation, and urine culture and sensitivity. The urological courses following urethral valve ablation including urodynamic study findings are described. Results. The median age at presentation was 33 months. All 5 patients presented with decreased urine output and urinary retention. All 5 patients underwent a MCU that demonstrated bladder trabeculations (3 cases), vesicoureteral reflux (3 cases), and bladder diverticula (2 cases). A urethral valve ablation was performed in all cases. Four patients underwent a renal function panel prior to this procedure, and their serum BUN/creatinine levels decreased 1 day postoperatively. Conclusion. Pediatricians should consider urethral valves as causing urethral obstruction although the prenatal ultrasound may be normal. Early diagnosis and prompt treatment of urethral valves may mitigate the potentially devastating morbidities such as renal failure, congestive heart failure, and respiratory distress that may ensue.

Case Report: Penile Strangulation Secondary to Hair Tourniquet.

Penile strangulation is a rare condition in children caused by circumferential constriction of the coronal sulcus by constricting material, commonly thin maternal hair. Vague presenting symptoms often makes diagnosis difficult, but delay in diagnosis can lead to a variety of severe complications including urethral injury and penile necrosis. Providers must have a high index of suspicion and carry out a careful examination to identify maternal hair strands that may bury deep within penile edema. We describe two cases of penile strangulation secondary to maternal hair strands that were successfully treated with thorough examination and division of the constricting hair in the emergency department. In both cases, presentation involved penile swelling and erythema which was noticed by caregivers. Once the diagnosis has been made, urgent treatment using depilatory cream or mechanical removal must occur, with urgent referral to specialists if unable to remove to constricting material. Caregivers must also be counseled on appropriate steps to prevent penile hair tourniquet syndrome. Devastating complications can be avoided by early recognition and proper management of the syndrome, but providers must have knowledge of the condition and a high index of suspicion.

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.

BACKGROUND: Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of kidneys, ovaries in females, and testes in males. WT1 gene mutations result in a WT1 protein with a decreased ability to bind to DNA, leading to uncontrolled growth, and cell division in the kidney which permits the development of Wilms tumor. A congenital ureteral valve is an exceedingly rare cause of obstructive uropathy. RESULTS: A renal and bladder ultrasound demonstrated a renal cyst. A voiding cystourethrogram revealed grade 3 vesicoureteral reflux, and a MAG3 renal scan showed ureteropelvic junction obstruction and hydronephrosis. A ureteral stent was inserted at 3 months of age after which the renal cyst resolved. The patient was urinary tract infection-free at 27 months of age. Genetic testing confirmed a heterozygous alteration in PAX6 (c.495delG, p.Thr166Leufs*41) and no abnormalities of WT1, excluding WAGR syndrome. CONCLUSION: The genitourinary risks potentially associated with aniridia necessitate prompt genetic analysis to evaluate for WAGR syndrome.

Scrotal Ultrasound Is Not Routinely Indicated in the Management of Cryptorchidism, Retractile Testes, and Hydrocele in Children.

Cryptorchidism, or undescended testes, is the most common congenital genitourinary anomaly. A failure or delay of treatment may result in reduced fertility or an increased risk of testicular cancer. The American Urological Association (AUA) recommends that a scrotal ultrasound (SUS) not be performed in the preoperative management of cryptorchidism. This study investigated how likely pediatricians were to perform SUS despite the AUA guidelines. We retrospectively studied 243 patients referred to a single pediatric urology practice for clinically diagnosed testis pathology including undescended testis, hydrocele, and retractile testis over a 4-year period (January 1, 2015, to December 30, 2018). A total of 72 patients (29.6%) underwent a SUS ordered by their pediatrician prior to the pediatric urology visit. Pediatricians should be aware that SUS performed prior to pediatric urological evaluation does not alter management and is associated with a significant financial cost in patients with cryptorchidism or hydrocele.

Bilateral inguinal lipoblastomas presenting as inguinal hernias.

Lipoblastomas are rare, encapsulated tumors arising from embryonic white fat. They primarily occur in infancy and early childhood and have a male predominance. Lipoblastomas are usually located on the trunk and extremities although may develop on the head and neck, mediastinum, abdomen, and retroperitoneum. They are seldom encountered in the inguinal region. A complete resection of the tumor followed by diligent postoperative imaging are essential to detect recurrent disease in its earliest stage. Herein, we report the first case in the literature of a 1-year-old boy with bilateral inguinal lipoblastomas which presented as inguinal hernias.

Importance of Physical Examination and Imaging in the Detection of Tethered Cord Syndrome.

Tethered cord syndrome (TCS) is a type of occult spinal dysraphism that may lead to permanent neurologic and orthopedic deficits. Infants with TCS may have lumbosacral cutaneous malformations (LsCMs). We studied 67 infants referred to a single pediatric urology practice for a urological concern unrelated to occult spinal dysraphism with no prior diagnosis of LsCM between March 1, 2015 and September 30, 2018. Each infant underwent a spinal ultrasound. If an abnormality was detected, they were referred to a pediatric neurosurgeon. The most common cutaneous manifestations were duplicated or bifurcated (46%) gluteal folds and gluteal asymmetry (16%). Fourteen (21%) of the 67 patients had an abnormal spinal ultrasound; 5 of the 14 infants underwent a lumbar magnetic resonance imaging. One infant had urodynamics studies and a tethered cord release. Pediatricians should be familiar with TCS and perform lumbar physical examinations for LsCMs suggestive of TCS to ensure prompt diagnosis and management and avoid potentially devastating complications.

Pelvic neuroblastoma presenting with acute urinary retention and acute kidney injury.

•Neuroblastomas are tumors that arise from primitive sympathetic ganglion cells and are rarely seen in the pelvic region.•Neuroblastomas are the most common extracerebral solid tumors in children under the age of five years.•Acute urinary retention due to extrinsic compression from a pelvic mass is a rare phenomenon in infants.•Pelvic neuroblastoma may cause acute urinary retention and acute kidney injury.

Renal Calculus in Floating-Harbor Syndrome: A Case Report.

Floating-Harbor syndrome is a rare condition marked by short stature and delayed bone age, characteristic facial features, and speech impairment. Floating-Harbor syndrome commonly results from a sporadic genetic mutation. Renal abnormalities have rarely been encountered. We report the first patient with Floating-Harbor syndrome who spontaneously passed a renal calculus consisting of calcium oxalate monohydrate and calcium oxalate dihydrate. A renal ultrasound showed echotexture within the renal pyramids, hydronephrosis, and a cyst. Pediatric nurse practitioners should be alert to the unique features associated with Floating-Harbor syndrome and be prepared to monitor and treat the renal abnormalities that may accompany this uncommon condition.