Eric Z. Massanyi

Radial Forearm Free Flap Phalloplasty for Penile Inadequacy in Patients with Exstrophy

PURPOSE Male patients with bladder and cloacal exstrophy are born with demure genitalia and often desire phalloplasty during late adolescence or early adulthood. Radial forearm free flap phalloplasty was used successfully for congenital aphallia in a few small series. We present a series of patients treated with phalloplasty using a radial forearm free flap after the repair of bladder and cloacal exstrophy. MATERIALS AND METHODS We reviewed the records of 10 patients who underwent radial forearm free flap phalloplasty between 2007 and 2012. Indications for phalloplasty were classic bladder exstrophy in 8 cases and cloacal exstrophy in 2. Nine patients underwent prior urinary diversion and 1 underwent urethroplasty at phalloplasty. In each case we reviewed the details of prior exstrophy repair, flap size, donor and recipient vessels, complications, need for subsequent surgeries and self-reported sensation. RESULTS The graft survived in all 10 patients. Short-term complications requiring surgical intervention developed in 2 patients. Five patients subsequently underwent placement of a penile prosthesis and 2 devices were removed secondary to erosion. All 10 patients reported protective sensation and erogenous sensation with ability to achieve orgasm at last followup. CONCLUSIONS Radial forearm free flap phalloplasty results in a sensate, cosmetic neophallus. No patient had long-term complications related to phalloplasty but complications related to penile prostheses continue to be a challenging aspect of phalloplasty. The long-term results of the forearm free flap are encouraging in this series of patients with bladder and cloacal exstrophy who desired phalloplasty.

Review and management of 46,XY Disorders of Sex Development

Disorders of sex development (DSD) among 46,XY individuals are rare and challenging conditions. Abnormalities of karyotype, gonadal formation, androgen synthesis, and androgen action are responsible for the multiple disorders that result in undervirilization during development. Phenotypic appearance and timing of presentation are quite variable. The focus of treatment has shifted from early gender assignment and corrective surgery to careful diagnosis, proper education of patients and their families, and individualized treatment by a multi-disciplinary team. The modern management of these patients is difficult and controversial. Conflicting data on long-term outcomes of these individuals have been reported in the literature. The various etiologies of 46,XY DSD, current approaches to diagnosis and treatment, and reported long-term results are reviewed.

Modern Management of Bladder Exstrophy Repair

The exstrophy–epispadias complex is a rare congenital malformation of the genitourinary system, abdominal wall musculature, and pelvic bones. Historically, surgical outcomes in patients with classic bladder exstrophy, the most common presentation of the exstrophy–epispadias complex, were poor. However, modern techniques have increased the success of achieving urinary continence, satisfactory cosmesis, and improved quality of life. Still, recent studies recognize complications that may occur during management of these patients. This review provides readers with an overview of the exstrophy–epispadias complex, the modern management of bladder exstrophy, and potential surgical complications.

Initial bladder closure of the cloacal exstrophy complex: Outcome related risk factors and keys to success

PURPOSE This study examines a large single-institution experience with cloacal exstrophy patients, analyzing patient demographics and surgical strategies predictive of bladder closure outcomes. METHODS One hundred patients with cloacal exstrophy were identified. Complete closure history including demographics, operative history, and outcomes was available on 60 patients. Twenty-six patients with a history of failed initial bladder closure were compared to 34 with a history of successful initial bladder closure. Univariate logistic regression analysis was used to compare the two groups. RESULTS Median follow up time after initial closure was 9years (range: 13months-29years). A 1cm increase in pre-closure diastasis resulted in a 2.64 increase in the odds of initial closure failure (p=0.004). Protective strategies against failure included delaying closure (per month) (OR=0.894, p=0.009), employing pelvic osteotomies (OR=0.095, p<0.001), and applying external fixation (OR=0.024; p=0.001). Among patients who underwent osteotomy (31% of patients in the failed group, 82% in the successful group), a longer delay between osteotomy and closure (OR=0.033; p=0.005) was also protective against failure. CONCLUSION Patients with a large diastasis are more likely to fail initial closure. Delaying initial closure for at least 3months, performing pelvic osteotomy, and using an external fixation device post-operatively are strategies that improve closure success.

Bladder capacity as a predictor of voided continence after failed exstrophy closure.

OBJECTIVE To evaluate potential predictors of voided continence among bladder exstrophy patients with a history of a failed closure. PATIENTS AND METHODS The authors reviewed all patients who underwent a bladder neck reconstruction (BNR) with a history of one or more failed exstrophy closures between 1979 and 2007. The following data were collected for each patient: number of failures, site of surgery, mode of failure, presence of osteotomy, bladder capacity, need for additional procedures, and continence status. RESULTS Among patients who underwent successful reclosure following one or more failed closures, 52 patients underwent BNR, and 24 (46%) were continent at last follow-up. Bladder capacity was the only variable predictive of voided continence. The median bladder capacity at the time of BNR differed between those who achieved continence (100 mL) and those who did not (65 mL) (p = 0.005). ROC analysis showed an optimal pre-BNR bladder capacity cutoff for predicting future BNR success of between 80 and 100 mL. CONCLUSION As previously shown in patients with successful primary closure of exstrophy, these data suggest that bladder capacity also has predictive value in the success of BNR after failed exstrophy closure.

Novel Mutation Among Two Sisters With 17β Hydroxysteroid Dehydrogenase Type 3 Deficiency

The clinical presentations of 17β hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency, 5α-reductase type 2 deficiency, and complete androgen insensitivity syndrome can be similar. However, those with 17β-HSD3 deficiency and 5α-reductase type 2 deficiency will develop virilization and should undergo gonadectomy after genetic testing before the age of puberty if reared in the female sex. Two sisters were initially diagnosed with complete androgen insensitivity syndrome as young children after testes were discovered during hernia surgery. Virilization occurred in both sisters during puberty, and a diagnosis of 17β-HSD3 deficiency was suspected. Confirmatory diagnosis through gene sequencing identified a heterozygous mutation for both a known splicing mutation and a previously unreported amplification mutation of the HSD17B3 gene.

Perioperative management of classic bladder exstrophy

The exstrophy-epispadias complex is a rare congenital malformation of the genitourinary system, abdominal wall muscles, and pelvic structures. Modern surgical repairs focus on reconstruction of the bladder and its adjacent structures, with the goal of achieving urinary continence, a satisfactory cosmetic result, and a high quality of life. Complex surgery in neonates and young children, as well as a prolonged postoperative course require close collaboration between surgeons, anesthesiologists, intensivists, pediatricians, and an experienced nursing staff. This article will review the spectrum of bladder exstrophy anomalies, the surgical repair, and the perioperative interdisciplinary management.

Role of urethral bulking agents in epispadias–exstrophy complex patients

OBJECTIVE Injection of urethral bulking agents (UBA) has been used to increase bladder capacity prior to bladder neck reconstruction (BNR) or as an adjuvant therapy following BNR to improve continence. The purpose of this study was to determine the effectiveness of urethral injections in the exstrophy population. MATERIALS AND METHODS A review was performed of patient characteristics, bladder capacity, and continence status of all patients with the exstrophy-epispadias complex who underwent injection of UBA between 1980 and 2008. RESULTS Among 66 patients with a median follow-up of 8 years, 41 underwent injections prior to BNR, and 25 had injections after BNR. Only 24% of patients who underwent injections prior to BNR were continent on last follow-up. Among 25 patients who underwent BNR prior to injection(s), 16 were partially continent and nine were incontinent prior to first injection. Patients who were partially continent attained social continence (dry interval greater than 3 h) at a significantly higher rate than those who were incontinent (63% vs. 13%, p = 0.047). No patient with cloacal exstrophy in either group attained urethral continence. CONCLUSION UBAs do not appear to have a role prior to BNR. However, they may provide benefit when given adjunctively following BNR in patients who are partially continent.

Pediatric surgical complications of major genitourinary reconstruction in the exstrophy–epispadias complex

PURPOSE Urinary continence is the goal of exstrophy-epispadias complex (EEC) reconstruction. Patients may require a continent urinary diversion (CUD) if they are a poor candidate for bladder neck reconstruction or are receiving an augmentation cystoplasty (AC) or neobladder (NB). This study was designed to identify the incidence of surgical complications among various bowel segments typically used for CUD. METHODS A prospectively kept database of 1078 patients with EEC at a tertiary referral center from 1980 to 2012 was reviewed for major genitourinary reconstruction. Patient demographics, surgical indications, perioperative complications, and outcomes were recorded. RESULTS Among reviewed EEC patients, 134 underwent CUD (81 male, 53 female). Concomitant AC was performed in 106 patients and NB in 11. Median follow up time after initial diversion was 5 years. The most common CUD bowel segments were appendix and ileum. The most common surgical complications after CUD were small bowel obstruction, post-operative ileus, and intraabdominal abscess. There was a significantly increased risk in the occurrence of pelvic or abdominal abscess when colon was used as a conduit compared to all other bowel segments (OR=16.7, 95% CI: 1.16-239) and following NB creation compared to AC (OR=39.4, 95% CI: 3.66-423). At postoperative follow-up, 98% of patients were continent of urine via their stoma. CONCLUSION We report the largest series to date examining CUD in the EEC population. The increased risk of abdominal and pelvic abscesses in patients who receive a colon CUD and undergo NB compared to AC indicates that while surgical complications following major genitourinary reconstruction are rare, they do occur. Practitioners must be wary of potential complications that are best managed by a multi-disciplinary team approach.

Perioperative Analgesic Management of Newborn Bladder Exstrophy Repair Using a Directly Placed Tunneled Epidural Catheter with 0.1% Ropivacaine.

Effective multimodal analgesia and sedation reduce the postoperative morbidity and mortality associated with newborn bladder exstrophy repair. Epidural analgesia is safe and effective for major surgery in neonates and infants, reducing the need for muscle relaxants, opioids, and ventilator support postoperatively. The risk of epidural catheter colonization typically dictates removal after 3 to 5 days. Tunneling the catheter subcutaneously reduces the risk of colonization, providing prolonged analgesia for patients requiring an extended immobilization to prevent compromise of the repair. In this report, we describe the postoperative analgesic management of an infant undergoing bladder exstrophy repair using a directly placed tunneled epidural catheter with ropivacaine 0.1% infusion. Because of the prolonged infusion, we also monitored plasma ropivacaine levels to preclude systemic toxicity from local anesthetic overdose.