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Familial testicular torsion

Cubillos, Jimena; Palmer, Jeffrey S; Friedman, Steven C; Freyle, Jaime; Lowe, Franklin C; Palmer, Lane S
PURPOSE/OBJECTIVE:Isolated reported cases of familial torsion yield modest information on incidence, genetics or clinical features. We present what is to our knowledge the largest series of familial torsion, including the first 3 generation case and a review of the literature. MATERIALS AND METHODS/METHODS:Since 2006, we have questioned the presence of a positive family history in all patients with torsion at the initial consultation. We compiled data on familial relationship, laterality, age and outcomes of the proband and affected relatives. We collected previously published cases to better understand clinical features and genetics. RESULTS:Eight of 70 boys (11.4%) with torsion had affected family members. Another 2 families were included from a historical perspective. One relative was affected in 7 families, 2 were affected in 2 and 3 were affected in 1. First degree relatives were most commonly affected. In 1 family torsion occurred in 3 consecutive generations. Despite a family history 50% of patients experienced testicular loss. Brothers were affected in each of the 10 previously reported cases. In 3 families fathers were also affected. There were 3 sets of monozygotic twins. We noted laterality concordance 5 times and discordance 6 times. Age at torsion in probands was adolescence except in 2 with neonatal torsion. No clear inheritance mode was found. CONCLUSIONS:Familial torsion occurs in about 10% of probands and can affect multiple relatives and generations. A positive family history may be useful for torsion diagnosis and management. Relatives of affected patients need education on the signs and symptoms of torsion, and the importance of early presentation to improve outcome.
PMID: 21555017
ISSN: 1527-3792
CID: 5015472

Lymphatic sparing microscopic retroperitoneal varicocelectomy: a preliminary experience

Wong, Jean; Chan, Sherman; Pagala, Murali; Friedman, Steven
PURPOSE/OBJECTIVE:One of the most common approaches to varicocele in adolescents is the Palomo technique. We report the experience of a single surgeon using a modification in which an operating microscope was brought into the field so that lymphatics were identified and preserved. By sparing lymphatics we attempted to reduce the hydrocele rate to levels achieved with microscopic inguinal and subinguinal surgery. MATERIALS AND METHODS/METHODS:A total of 20 boys with grade III varicocele underwent retroperitoneal gonadal vessel ligation with microscope assisted sparing of lymphatics between November 2004 and June 2007. Mean patient age was 15 years and mean followup was 11.2 months (range 1 to 29). RESULTS:Microscopic retroperitoneal varicocelectomy was performed in all patients with sparing of lymphatics under high power microscope. Clinical examination was performed at 1 week, 3, 6 and 12 months, and then annually to assess for recurrence and hydrocele. All boys who were followed had no hydrocele or recurrence. CONCLUSIONS:The microscope has had a large role in inguinal and subinguinal approaches. However, this technique takes up to 2 hours and testicular atrophy has been reported. There were no complications and operative time was shorter. Our technique, which uses magnification in the retroperitoneum, has not been described previously. It combines the simplicity of the original Palomo technique with a short period of microscopic dissection for identification and sparing of the lymphatics. This modification results in high success rates and fewer postoperative hydroceles.
PMID: 19765758
ISSN: 1527-3792
CID: 5015772

Parenchymal echo texture predicts testicular salvage after torsion: potential impact on the need for emergent exploration

Kaye, Jonathan D; Shapiro, Edan Y; Levitt, Selwyn B; Friedman, Steven C; Gitlin, Jordan; Freyle, Jaime; Palmer, Lane S
PURPOSE/OBJECTIVE:In the setting of signs and symptoms of testicular torsion the absence of diastolic flow and/or color flow on Doppler ultrasound has traditionally prompted emergent scrotal exploration. This practice emanates largely from the difficulty on ultrasound of distinguishing salvageable torsed testes from those that are not salvageable. We identified ultrasound findings predictive of testicular viability or the lack thereof. MATERIALS AND METHODS/METHODS:We retrospectively reviewed the charts of all boys who underwent scrotal exploration for signs and symptoms of torsion during a 4-year period. In those who underwent preoperative Doppler ultrasound of the scrotum ultrasound findings were reviewed, as were the operative dictations. In patients who underwent orchiectomy the pathology reports were also reviewed. In patients in whom the torsed testis appeared viable and who underwent orchiopexy followup data were reviewed when available. Emergency room charts were also reviewed to ascertain, when documented, the duration of pain before presentation to the emergency room and the interval between ultrasound and operating room. RESULTS:During this period 55 boys underwent exploration after preoperative scrotal Doppler ultrasound revealed absent diastolic flow and/or color flow Doppler in the symptomatic testis. Assessment of parenchymal echogenicity revealed heterogeneity in 37 testes (67%), of which none were deemed viable at exploration. Orchiectomy was performed in 34 of 37 cases. Pathological examination revealed necrosis in all 34 cases, a finding consistent with late torsion. The remaining 3 testes underwent orchiopexy by parental directive despite nonviability, as confirmed by biopsy and subsequent atrophy. Thus, heterogeneity on preoperative ultrasound was universally predictive of organ loss (chi-square p <0.001). Of the 18 symptomatic testes (33%) demonstrating homogeneity and isoechogenicity on ultrasound 16 (89%) were deemed viable at exploration. Boys in whom the torsed testicle was nonviable on exploration experienced an average of 27.5 hours of pain preoperatively (range 5 to 72), whereas boys in whom the torsed testis was salvaged experienced an average of 20.5 hours of pain (range 2 to 96) (p = 0.073). The nonviable group underwent surgery an average of 49 minutes after ultrasound, whereas the viable group underwent surgery 52 minutes after ultrasound (p = 0.92). None of the 55 patients experienced any surgical or anesthetic complications and no pathological condition was noted intraoperatively in the contralateral asymptomatic testis. CONCLUSIONS:In the setting of Doppler proven testicular torsion heterogeneous parenchymal echo texture indicates late torsion and testicular nonviability. Therefore, the case may not require emergent scrotal exploration. On the other hand, homogeneous echo texture portends extremely well for testicular viability. Thus, such testes should be explored emergently.
PMID: 18721947
ISSN: 1527-3792
CID: 5015452

Neonatal torsion: a 14-year experience and proposed algorithm for management

Kaye, Jonathan D; Levitt, Selwyn B; Friedman, Steven C; Franco, Israel; Gitlin, Jordan; Palmer, Lane S
PURPOSE/OBJECTIVE:Management of neonatal torsion is controversial, since the likelihood of testicular salvage and metachronous contralateral torsion must be weighed against the risk of neonatal anesthesia. We reviewed a large series of such cases and stratified neonatal torsion based on time of presentation to determine the potential for testicular salvage. To our knowledge this is the largest series of its kind in the literature. MATERIALS AND METHODS/METHODS:All cases of neonatal torsion were classified as either prenatal (noted at the time of delivery) or postnatal (noted after birth and before age 1 month). The charts of all patients were reviewed and data were collected on demographic information, pregnancy and birth history, laterality, physical examination findings, radiological imaging, intraoperative findings, anesthetic morbidities, perioperative complications and pathological diagnoses. Followup data were also collected for patients who underwent detorsion and orchiopexy. RESULTS:A total of 16 neonatal torsions (right side 8, left side 6, bilateral 1) were diagnosed in 15 patients at our institution between 1993 and 2007. A total of 13 torsions (81%) were prenatal and 3 (19%) were postnatal. All 13 prenatal torsions (100%) resulted in infarction (right 7, left 4, bilateral 2) confirmed by pathological examination. All patients underwent testicular exploration via an inguinal approach. A total of 11 cases were managed by orchiectomy at an average of 7.6 days (range 0 to 37) following birth. One of the bilaterally torsed testes showed infarction and necrosis on biopsy, and was detorsed and fixed in place. A second prenatally torsed testis was detorsed and pexed but atrophied on followup. Among the 3 postnatal torsions 1 (33%) was deemed viable on exploration and, therefore, salvaged. Of the 10 prenatal torsions with known prenatal history 5 (50%) were associated with at least 1 significant prenatal complication. Nine of the 10 patients with prenatal torsion (90%) were delivered vaginally, and 1 by cesarean section after prolonged failure of descent. CONCLUSIONS:Complicated pregnancies and vaginal deliveries seem to predispose patients to testicular torsion. Contrary to previous series, neonatal torsions do not appear to favor one side or the other. Prenatal torsions are never salvageable, and, therefore, do not warrant emergent intervention. Postnatal torsions are sometimes salvaged, and a judicious approach to surgical exploration should be taken.
PMID: 18433778
ISSN: 1527-3792
CID: 5015802

Biofeedback therapy expedites the resolution of reflux in older children

Palmer, Lane S; Franco, Israel; Rotario, Paul; Reda, Edward F; Friedman, Steven C; Kolligian, Mark E; Brock, William A; Levitt, Selwyn B
PURPOSE/OBJECTIVE:In older children the spontaneous resolution rate of low grade vesicoureteral reflux is low and currently its management is controversial in regard to surgery versus prophylaxis versus observation alone. Bladder dysfunction in children with neurogenic bladders and to a less declarative degree in neurologically intact children has a role in the etiology or persistence of reflux. We determine the impact of biofeedback therapy on neurologically intact children with vesicoureteral reflux and detrusor-sphincter dyssynergia. MATERIALS AND METHODS/METHODS:Vesicoureteral reflux was detected by voiding cystourethrography in children evaluated for urinary tract infections. Children with breakthrough infections or dysfunctional voiding based on history underwent uroflowmetry with concomitant patch electromyography of the external sphincter. Dyssynergia was defined as increased or steady electromyography activity during micturition. Biofeedback was initially performed weekly and the interval increased as indicated. The goals were to eliminate dyssynergia and reduce or eliminate post-void residual urine. Voiding cystourethrography was performed 1 year later to determine the status of the reflux. Ureteral reimplantation was performed during the period of biofeedback when indicated. RESULTS:From February 1997 to March 2001, 25 children 6 to 10 years old (mean age 9) with vesicoureteral reflux and detrusor-sphincter dyssynergia were treated with biofeedback therapy. There were 31 units (5 bilateral) with reflux, which was grade I in 10, II in 15, III in 5 and IV in 1. Children underwent an average of 7 sessions of biofeedback (range 2 to 20). On followup voiding cystourethrography, vesicoureteral reflux resolved in 17 units (55%), grade improved in 5 (16%) and reflux remained unchanged in 9 (29%). All cured vesicoureteral reflux was grade I (8 cases) or II (9). Four children (5 renal units) underwent reimplantation. In cured children there were no breakthrough infections during or since therapy and post-void residual urine decreased from an average of 40% before to 10% after therapy. Symptoms of urgency, daytime wetting and hoarding of urine improved or were eliminated in all children with resolved vesicoureteral reflux. CONCLUSIONS:Treating external detrusor-sphincter dyssynergia in older children with low grade vesicoureteral reflux, with biofeedback results in 1-year resolution rates that are considerably greater than historical resolution rates. External detrusor-sphincter dyssynergia should be screened for in children when surgery or discontinuation of chemoprophylaxis is considered so that biofeedback can be started.
PMID: 12352338
ISSN: 0022-5347
CID: 5015782

The "long Snodgrass": applying the tubularized incised plate urethroplasty to penoscrotal hypospadias in 1-stage or 2-stage repairs

Palmer, Lane S; Palmer, Jeffrey S; Franco, Israel; Friedman, Steven C; Kolligian, Mark E; Gill, Bhagwant; Levitt, Selwyn B
PURPOSE/OBJECTIVE:The technique of tubularized incised plate urethroplasty (Snodgrass modification) has gained wide acceptance for hypospadias repair. The reported experience with this surgical modification has been primarily in cases of distal hypospadias. We applied this technique to cases of penoscrotal hypospadias and incised the urethral plate for its entire distance. MATERIALS AND METHODS/METHODS:In the last 24 months 21 boys 7 months to 8 years old with penoscrotal hypospadias were treated with a Thiersch-Duplay urethroplasty using the Snodgrass modification. The procedure was performed in 7 patients as a primary repair and in 14 at stage 2 of the 2-stage repair. The entire length of the urethral plate was incised along the midline in primary repairs, and the skin flaps and residual urethral plate were incised in the 2-stage repairs. The neourethra was tubularized over a 5 or 8Fr catheter. A layer of de-epithelialized tissue from the dorsal prepuce was used to cover the neourethra. No patient required skin flap to complete the urethroplasty. The urethral stent was removed in 7 to 10 days postoperatively. RESULTS:Of the 21 patients 19 (90%) required no other surgery as the repair provided a normal appearing penis (straight, terminal meatus, cosmetics) without complications such as meatal stenosis, fistula and diverticula, and voiding with a well directed full stream. One child had dehiscence of the glanular portion of the repair and 1 child had a pinpoint fistula, both of which were repaired successfully at a later date. Followup ranges from 5 to 12 months. CONCLUSIONS:The "long Snodgrass" modification to a Thiersch-Duplay repair is an effective technique for penoscrotal hypospadias as a single and 2-stage procedure. The success and complication rates are excellent in the short term. Longer term complications, such as strictures and diverticula, need to be assessed in the future.
PMID: 12352351
ISSN: 0022-5347
CID: 5015792