One - staged reconstruction of bladder exstrophy in male patients: long - term follow-up outcomes.

INTRODUCTION: The surgical correction of bladder exstrophy remains challenging. In our institution, the repair has evolved from a staged repair to one-stage reconstruction. The one-stage reconstruction includes; bladder closure, Cantwell-Ransley neourethroplasty and abdominoplasty using groin flaps, without the need of pelvic ostheotomies. Repair of urinary continence (UC) and vesicoureteral reflux (VUR) is done after development of the infant. OBJECTIVE: To present our experience of our modified one-stage reconstruction of bladder exstrophy in male patients. MATERIALS AND METHODS: Medical records of male patients submitted to one-stage reconstruction of bladder exstrophy were analyzed retrospectively. Fifteen exstrophy bladder patients with mean age 4.2±7 years were treated at our institution between 1999-2013. RESULTS: Eleven patients were referred to us after previous surgery. Sixteen procedures were performed; one patient had complete wound dehiscence and needed another reconstruction (6.7%). Mean follow up was 10.3±4.5 years. No patient has had a loss of renal function. Postoperative complications: four patients (26.6%) presented small fistulas, one presented penile rotation. Eleven patients (73.3%) patients underwent bladder-neck surgery. Five (33.3%) required bladder augmentation. Three cases (20%) needed subsequent treatment of VUR. At the time of our review nine (60%) patients achieved UC, two (13.3 %) patient without additional procedure. A mean of 3±1.1 procedures (2-5) was accomplished per children. CONCLUSIONS: One-stage reconstruction minimizes the number of surgical procedures required to achieve UC and potentiates bladder-neck function. The advantages of using groin flaps over current techniques for complete repair are the small risk for penile tissue loss and the avoidance of ostheotomies.

Urethral duplication type influences on the complications rate and number of surgical procedures.

INTRODUCTION: Urethral duplication is rare. Characterized by the presence of two urethral channels. This anomaly presents a great variety of clinical findings that depend on the type of duplication that often is associated with other anomalies. MATERIAL AND METHODS: We report thirteen boys with urethral duplication managed in our institution between 1988-2015. Clinical findings, associated anomalies, treatment of urethral duplication and our results are described. Patients were classified according to Effmann classification. RESULTS: Mean patient's age was 38.3±34.7 months (3-136 months). Mean follow-up was 7.7±3.4 years (3y8m-14y2m). Type II A2 was the most common pattern (8/13 patients, 61.5%), followed by type IA (3/13 patients, 23%) and IIA1 (2/13 patients, 15.3%). The most frequent clinical manifestations were urinary tract infections (UTI) observed in 11/13 patients (84.6%) and anal urinary leakage, found in 7/13 patients (53.8%). Associated anomalies were found in 9/13 patients (69.2%). Required surgeries were 3.53±2.84 procedures per patient. Considering groups: Type IIA2 4.25±3.28, type IIA1 4±1.41 and type IA 1.33±0.57 needed procedures per patient. Complications rate were 0% for type IA, 50% for type IIA1 and 75% for type IIA2. CONCLUSIONS: Patients with incomplete duplication (type I A or I B) can totally be asymptomatic, with no need of surgical correction. Type IIA2 is the most complex form of duplication to correct and multiple procedures might be required because of the very hypoplastic orthotopic dorsal urethral tissue. Surgical treatment should be individualized and parents should be advised on complications and need of multiple surgeries according to urethral duplication type.

Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction.

OBJECTIVES: Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS: This is a retrospective cohort study of all fetuses who underwent cystoscopy for prenatal diagnosis of LUTO in three tertiary referral centers. Fetal diagnostic cystoscopy was performed to determine prenatally the cause of LUTO and to ablate the posterior urethral valves (PUV). RESULTS: A total of 50 fetal cystoscopies were performed, revealing PUV in 31 (62%) fetuses, urethral atresia (UA) in 14 (28%) fetuses, and urethral stenosis (US) in 5 (10%) fetuses. Two fetuses had trisomy 18 diagnosed after fetal cystoscopy and were excluded from the present analysis. Fetal cystoscopy was accurate in the diagnosis of the etiology of LUTO in 32/35 (91.4%). There were no survivors in the UA group. One fetus with US underwent urethral stenting and survived with normal renal function at 2 years of life. Among the infants with PUV, 17/30 (56.7%) infants survived, and 13/17 (76.5%) had normal renal function at 1 year of life; 15/28 (53.6%) infants survived, and 11/15 (73.3%) had normal renal function at 2 years. CONCLUSIONS: Fetal cystoscopy is accurate in the diagnosis of the etiology of LUTO and serves as a guide to the specific prenatal treatment. This procedure is associated with modest long-term survival (54%) but with adequate preserved normal renal function in two thirds of the infants among fetuses with PUV.

MMP9 overexpression is associated with good surgical outcome in children with UPJO: Preliminary results.

BACKGROUND: Ureteropelvic junction obstruction (UPJO) diagnosed prenatally occurs in 1:150 - 1:1200 pregnancies. Although many studies investigating the molecular changes of this obstructed segment have been performed, the underlying mechanisms are still unclear. The role of extracellular matrix (ECM) components remains controversial, and the investigations in the field of ECM changes, might help the better understanding of the pathogenesis of this common condition. The aim of the present study was to investigate for the first time in the literature whether MMP9 and its specific inhibitors, TIMP1 and RECK, are expressed in a reproducible, specific pattern in UPJ. METHODS: UPJO specimens were obtained from 16 children at the time of dismembered pyeloplasty due to intrinsic UPJ stenosis. Expression levels of the three genes (MMP9, TIMP1 and RECK) were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR). Then correlated the expression levels of the genes according to grade study population that was divided in 2 categories according to Society of Fetal Urology classification, grade 3 (moderate) and 4 (severe). For DTPA we subdivided the childrens in 2 groups, obstructive (T 1/2 more than 20 min) and partial obstructive (T 1/2 between 10 and 20 min) and success in a surgery was defined as decrease in T 1/2 to less than 20 min, absence of symptoms, improving renal function and decreasing dilatation on successive exams. RESULTS: MMP9 was underexpressed and TIMP1 and RECK were overexpressed in children with obstructive DTPA but the differences were not statistically significant. Overexpression of MMP9 was higher among patients with severe grade of UPJ compared to those with moderate grade. Surprisingly expression levels of MMP-9 was three times higher in children who were successfully treated by surgery (n = 10) (p = 0.072), so those who were followed for at least 1 year after surgery and remained with improvement in renal function and decreasing dilation on intravenous urogram and TIMP-1 was underexpressed in 100 % of this cases (p = 0.00). CONCLUSIONS: We showed an increase in expression of MMP9 and a decrease in expression of TIMP1 in children who improving renal function and decreasing dilation after surgery. We believe that the higher expression of MMP9 in these cases can reflect an increase in degradation and remodeling process that could be used as a marker for surgical outcome.

Bladder exstrophy: reconstructed female patients achieving normal pregnancy and delivering normal babies.

PURPOSE: Bladder exstrophy (BE) is an anterior midline defect that causes a series of genitourinary and muscular malformations, which demands surgical intervention for correction. Women with BE are fertile and able to have children without this disease. The purpose of this study is to assess the sexual function and quality of life of women treated for BE. MATERIALS AND METHODS: All patients in our institution treated for BE from 1987 to 2007 were recruited to answer a questionnaire about their quality of life and pregnancies. RESULTS: Fourteen women were submitted to surgical treatment for BE and had 22 pregnancies during the studied period. From those, 17 pregnancies (77.2%) resulted in healthy babies, while four patients (18.1%) had a spontaneous abortion due to genital prolapse, and there was one case (4.7%) of death due to a pneumopathy one week after delivery. There was also one case (5.8%) of premature birth without greater repercussions. During pregnancy, three patients (21.4%) had urinary tract infections and one patient (7.14%) presented urinary retention. After delivery, three patients (21.4%) presented temporary urinary incontinence; one patient (7.14%) had a vesicocutaneous fistula and seven patients (50%) had genital prolapsed. All patients confirmed to have achieved urinary continence, a regular sexual life and normal pregnancies. All patients got married and pregnant older than the general population. CONCLUSIONS: BE is a severe condition that demands medical and family assistance. Nevertheless, it is possible for the bearers of this condition to have a satisfactory and productive lifestyle.

Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center.

OBJECTIVE: To report the experience with fetal cystoscopy and laser fulguration of posterior urethral values (PUV) for severe lower urinary tract obstruction (LUTO). METHODS: Between July 2006 and December 2008, fetal cystoscopy was offered to 23 patients whose fetuses presented with severe LUTO, favorable urinary analysis and gestational age <26 weeks. Fetal urinary biochemistry was evaluated before and after cystoscopy. All infants were followed 6-12 months after birth. Abnormal renal function was defined when serum creatinine higher than 50 micromol/L (2 Standard Deviation) or the necessity of dialysis or renal transplantation. Autopsy was always performed whenever fetal or neonatal deaths occurred. RESULTS: Eleven patients decided to undergo fetal therapy and 12 elected to continue with expectant observation. There was no difference between both groups in gestation age at diagnosis and referral examinations. Urethral atresia was diagnosed in 4/11 (36.4%) fetuses by fetal cystoscopy. At 26 weeks, fetuses that were managed expectantly presented with worse urinary biochemistry results (p < 0.05). Survival rates and percentage of infants with normal renal function were significantly higher in the cystoscopic group than in the expectant group (p < 0.05). CONCLUSIONS: Percutaneous fetal cystoscopy is feasible using a thinner special cannula for prenatal diagnosis and therapy of LUTO. Prenatal laser ablation of the PUV under cystoscopy may prevent renal function deterioration improving postnatal outcome.

Laparoscopic renal surgery in infants and children: is it a feasible and safe procedure for all pediatric age groups?

PURPOSE: Although laparoscopy is considered the mainstay for most renal procedures in adults, its role in the pediatric population is still controversial, especially for smaller children. We reviewed our experience in pediatric renal laparoscopic surgery in three pediatric age groups in an attempt to identify if age has an impact on feasibility and surgical outcomes. MATERIALS AND METHODS: From November 1995 to May 2006, 144 pediatric laparoscopic renal procedures were performed at our institution. The charts of these patients were reviewed for demographic data, urologic pathology and surgical procedure, as well as perioperative complications and post-operative outcomes. The findings were stratified into 3 groups, according to patient age (A: < 1 year, B: 1 to 5 years and C: 6-18 years). RESULTS: Median age of the patients was 4.2 years (42 days - 18 years). We performed 54 nephrectomies, 33 nephroureterectomies, 19 upper pole nephrectomies, 11 radical nephrectomies, 22 pyeloplasties and 4 miscellaneous procedures. The 3 age groups were comparable in terms of the procedures performed. Conversion rates were 0%, 1.4% and 1.9% for groups A, B and C, respectively (p = 0.72). Incidence of perioperative complications was 5%, 8.2% and 7.8% for age groups A to C, respectively (p = 0.88). CONCLUSIONS: Most renal procedures can be performed safely by laparoscopy in the pediatric population, with excellent aesthetic and functional outcomes. The morbidity related to the procedure was minimal irrespective of the age group.

Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex.

BACKGROUND AND OBJECTIVE: The optimal treatment for children born with exstrophy-epispadia complex is still a matter of debate.1,2,3 We demonstrate the Single-Stage Abdominoplasty using Groin Flap technique to close the abdominal wall of children with classic bladder exstrophy (CBE) without osteotomy neither radical soft tissue mobilization. Advantages over current techniques are less risk of penile tissue loss and avoidance of osteotomies. MATERIAL AND METHODS: Abdominal wall repair consists in using the hypogastric skin, rectus, and obliquus externus abdominalis muscle fascial flaps. These groin flaps are rotated medially resulting in a very strong abdominal wall support. Groin flaps are made of rectus anterior fascia rotated medially, flipped over, and sutured with Prolene sutures to close the defect. By rotating the fascial flaps medially, complete reinforcement of the abdominal wall to the level of the pubic bone is achieved. This permits abdominal closure maintenance without tension. RESULTS: Groin flap was applied to 128 patients with CBE referenced from all over the country. Most of these patients returned to their home areas making difficult their follow up. However, we have 44 cases that have regular clinical visits. Mean follow-up was 10.3 ± 4.5 years (2 years 8 months-16 years). Successful closure was achieved in 43 patients (97.7%) as a single procedure; one patient had a complete wound dehiscence and needed another reconstruction (2.2%). Four patients (9.1%) presented abdominal hernias that needed surgical management. When continence is evaluated, we present similar literature rates (60%).4 CONCLUSION: Abdominal reconstruction using Groin flaps has advantages over the traditional approaches to CBE. It reduces the surgical steps and facilitates the closure of the abdominal wall without the need of osteotomies and consequent immobilization during the postoperative period. It is feasible at any age and can be also very useful as a salvage technique even after previous failed procedures. Finally, it minimizes the number of surgeries.

Quality of life in young adult patients treated for bladder exstrophy.

INTRODUCTION: Bladder exstrophy (BE) is a rare condition that requires complex surgical corrections to achieve the goals of bladder functionality, normal sexual function, continence, and finally cosmesis. The purpose of this study was to identify clinical parameters that predict better quality of life (QOL) scores using a validated questionnaire (SF-36) with young adults after completing surgical reconstruction. MATERIAL AND METHODS: Forty-three young adults (mean age 22.35 years, 29 men and 14 women) treated for BE were evaluated using the Short Form 36 general health questionnaire (SF-36). Clinical assessment involved evaluation of the actual condition regarding continence, sexual function, genital satisfaction and overall cosmesis. RESULTS: Both genders presented similar QOL scores (p = 0.36). The QOL was not age-related (p = 0.63). Neither genders did not present any differences in the number of procedures (p = 0.27). Although no significant gender difference was found, clinical impairments - such as urinary fistula, incontinence, penile length and infertility - were associated with worse QOL scores and were male-related (p <0.01). The most common complaint after complete surgical repair was about penile length (26/29 patients, 89.6%). CONCLUSIONS: Age and gender were not predictors of better QOL scores. Any clinical impairment, such as urinary leakage due to incontinence or fistula, penile length and infertility, tended to significantly decrease the overall QOL in male patients with BE. The male genitalia seems to be the most troublesome aspect post-adolescence in treated male patients with exstrophy-epispadias. It has an important impact on the overall QOL, mainly having a social affect on those patients.

GENITAL TRAUMA DUE TO ANIMAL BITES.

PURPOSE: Animal bites to the external genitalia are rare. We retrospectively evaluated our experience with treating genital trauma caused by animal attacks. MATERIALS AND METHODS: We studied the medical records of 10 patients treated in the surgical emergency department at our hospital who presented with genital injury caused by an animal bite from 1983 to 1999. Special attention was given to the severity of injury, surgical treatment, antibiotic prophylaxis and outcome. RESULTS: Of the 2 men and 8 boys 8 were attacked by dogs, 1 by a horse and 1 by a donkey, respectively. In all cases initial local treatment involved débridement and copious wound irrigation with saline and povidone-iodine solution. Five patients who presented with minimal or no skin loss underwent primary skin closure, including 2 in whom urethral lacerations were surgically repaired. There was moderate to extensive tissue loss in 5 patients, including degloving penile injury in 2, traumatic spermatic cord amputation in 1, complete penile and scrotal avulsion in a 5-month-old infant, and partial penectomy in 1. Reconstructive procedures provided satisfactory cosmetic and functional results in 8 cases. Antibiotic prophylaxis was administered in all patients and no infectious complications developed. CONCLUSIONS: Animal bite is a rare but potentially severe cause of genital trauma and children are the most common victims. Morbidity is directly associated with the severity of the initial wound. Because patients tend to seek medical care promptly, infectious complications are unusual. Management involves irrigation, débridement, antibiotic prophylaxis, and tetanus and rabies immunization as appropriate as well as primary wound closure or surgical reconstruction. Good functional and cosmetic results are possible in the majority of cases.

[Extracorporeal lithotripsy for the treatment of urolithiasis in children]. / A litotripsia extracorpórea no tratamento de cálculos urinários em crianças.

OBJECTIVE: Urinary lithiasis affects between five and 10% of the human population during their lifetime, only 2-3% of whom are children. Therapy of urolithiasis in the pediatric age group with minimally invasive methodology represents an attractive alternative. This study presents results of extracorporeal shockwave lithotripsy, a minimally invasive methodology, for the treatment of urinary lithiasis in children. METHODS: In the period between September 1991 and September 2000, 87 children were submitted to extracorporeal shockwave lithotripsy; as six of them presented with two calculi 93 urinary calculi were treated over that period. The Dornier-Philips lithotriptor was used in the procedures. RESULTS: Pelvic, superior and medium caliceal calculi were fragmented and eliminated in 87.7% and 77.8% of cases, respectively. Inferior caliceal stones were eliminated in 64.7% of cases. Only one of the three patients with staghorn calculi became stone-free after therapy (33.3%). All patients with ureteral calculi were stone-free after therapy. Bladder stones were fragmented and eliminated in 60% of cases. CONCLUSIONS: Extracorporeal shockwave lithotripsy is a safe and effective treatment for pelvic, caliceal, ureteral and bladder urolithiasis in children. Staghorn calculi have not shown satisfactory results when treated by this method. Extracorporeal shockwave lithotripsy results were influenced in our experience by the position and size of the treated calculi.

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report.

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding.

Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary se-xual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation.

One - staged reconstruction of bladder exstrophy in male patients: long - term follow-up outcomes

ABSTRACT Introduction The surgical correction of bladder exstrophy remains challenging. In our institution, the repair has evolved from a staged repair to one-stage reconstruction. The one-stage reconstruction includes; bladder closure, Cantwell-Ransley neourethroplasty and abdominoplasty using groin flaps, without the need of pelvic ostheotomies. Repair of urinary continence (UC) and vesicoureteral reflux (VUR) is done after development of the infant. Objective To present our experience of our modified one-stage reconstruction of bladder exstrophy in male patients. Materials and Methods Medical records of male patients submitted to one-stage reconstruction of bladder exstrophy were analyzed retrospectively. Fifteen exstrophy bladder patients with mean age 4.2±7 years were treated at our institution between 1999-2013. Results 2 5 Conclusions One-stage reconstruction minimizes the number of surgical procedures required to achieve UC and potentiates bladder-neck function. The advantages of using groin flaps over current techniques for complete repair are the small risk for penile tissue loss and the avoidance of ostheotomies.

Urethral duplication type influences on the complications rate and number of surgical procedures

ABSTRACT Introduction: Urethral duplication is rare. Characterized by the presence of two urethral channels. This anomaly presents a great variety of clinical findings that depend on the type of duplication that often is associated with other anomalies. Material and Methods: We report thirteen boys with urethral duplication managed in our institution between 1988-2015. Clinical findings, associated anomalies, treatment of urethral duplication and our results are described. Patients were classified according to Effmann classification. Results: Mean patient's age was 38.3±34.7 months (3-136 months). Mean follow-up was 7.7±3.4 years (3y8m-14y2m). Type II A2 was the most common pattern (8/13 patients, 61.5%), followed by type IA (3/13 patients, 23%) and IIA1 (2/13 patients, 15.3%). The most frequent clinical manifestations were urinary tract infections (UTI) observed in 11/13 patients (84.6%) and anal urinary leakage, found in 7/13 patients (53.8%). Associated anomalies were found in 9/13 patients (69.2%). Required surgeries were 3.53±2.84 procedures per patient. Considering groups: Type IIA2 4.25±3.28, type IIA1 4±1.41 and type IA 1.33±0.57 needed procedures per patient. Complications rate were 0% for type IA, 50% for type IIA1 and 75% for type IIA2. Conclusions: Patients with incomplete duplication (type I A or I B) can totally be asymptomatic, with no need of surgical correction. Type IIA2 is the most complex form of duplication to correct and multiple procedures might be required because of the very hypoplastic orthotopic dorsal urethral tissue. Surgical treatment should be individualized and parents should be advised on complications and need of multiple surgeries according to urethral duplication type.

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Laparoscopic diagnosis and treatment of nonpalpable testis.

INTRODUCTION: Treatment of the cryptorchid testicle is justified due to the increased risk of infertility and malignancy as well as the risk of testicular trauma and psychological stigma on patients and their parents. Approximately 20% of cryptorchid testicles are nonpalpable. In these cases, the videolaparoscopic technique is a useful alternative method for diagnosis and treatment. MATERIALS AND METHODS: We present data concerning 90 patients submitted to diagnostic laparoscopy for impalpable testicles. Forty-six patients (51.1%) had intra-abdominal gonads. In 25 testicles of 19 patients, we performed a two stage laparoscopic Fowler-Stephens orchiopexy. The other 27 patients underwent primary laparoscopic orchiopexy, in a total of 29 testicles. RESULTS: We obtained an overall 88% success rate with the 2 stage Fowler-Stephens approach and only 33% rate success using one stage Fowler-Stephens surgery with primary vascular ligature. There was no intraoperative complication in our group of patients. In the laparoscopic procedures, the cosmetic aspect is remarkably more favorable as compared to open surgeries. Hospital stay and convalescence were brief. CONCLUSIONS: In pediatric age group, the laparoscopic approach is safe and feasible. Furthermore, the laparoscopic orchiopexy presents excellent results in terms of diagnosis and therapy of the impalpable testis, which is why this technique has been routinely incorporated in our Department.

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding / Aberração cromossômica do Y em uma paciente com extrofia de bexiga e de cloaca e epispadia: um achado raro

Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary se­xual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation.

Aberrações cromossômicas ou síndromes genéticas associadas ao complexo extrofia de bexiga e de cloaca e epispadia são raramente relatadas. O objetivo é descrever uma paciente brasileira com 14 anos que apresenta uma malformação urogenital complexa, baixa estatura, ausência de características sexuais secundárias e alteração do cromossomo Y. Uma menina com extrofia de bexiga e de cloaca e epispadia foi encaminhada para avaliação de baixa estatura e ausência de desenvolvimento de características sexuais secundárias. Níveis pré-puberais de gonadotrofinas e esteroides sexuais foram observados no início da avaliação, mas durante o seguimento notou-se um aumento progressivo dos níveis de testosterona. Ela foi submetida à gonadectomia e identificou-se a presença de testículos sem características disgenéticas. O cariótipo era 46,X,inv(Y)(p11.1q11.2), com sequência normal do SRY e ausência de deleções do Y. A inversão pericêntrica do cromossomo Y, aparentemente, não contribuiu para o desenvolvimento da malformação urogenital complexa nessa paciente. Atualmente, nenhum agente teratogênico, fator ambiental ou mutações gênicas foram reconhecidos como fatores etiológicos para essa malformação urogenital.

Bladder exstrophy: reconstructed female patients achieving normal pregnancy and delivering normal babies

PURPOSE: Bladder exstrophy (BE) is an anterior midline defect that causes a series of genitourinary and muscular malformations, which demands surgical intervention for correction. Women with BE are fertile and able to have children without this disease. The purpose of this study is to assess the sexual function and quality of life of women treated for BE. MATERIALS AND METHODS: All patients in our institution treated for BE from 1987 to 2007 were recruited to answer a questionnaire about their quality of life and pregnancies. RESULTS: Fourteen women were submitted to surgical treatment for BE and had 22 pregnancies during the studied period. From those, 17 pregnancies (77.2 percent) resulted in healthy babies, while four patients (18.1 percent) had a spontaneous abortion due to genital prolapse, and there was one case (4.7 percent) of death due to a pneumopathy one week after delivery. There was also one case (5.8 percent) of premature birth without greater repercussions. During pregnancy, three patients (21.4 percent) had urinary tract infections and one patient (7.14 percent) presented urinary retention. After delivery, three patients (21.4 percent) presented temporary urinary incontinence; one patient (7.14 percent) had a vesicocutaneous fistula and seven patients (50 percent) had genital prolapsed. All patients confirmed to have achieved urinary continence, a regular sexual life and normal pregnancies. All patients got married and pregnant older than the general population. CONCLUSIONS: BE is a severe condition that demands medical and family assistance. Nevertheless, it is possible for the bearers of this condition to have a satisfactory and productive lifestyle.

Comprehensive surgical treatment of prune belly syndrome: 17 years' experience with 32 patients.

OBJECTIVES: To describe the results of comprehensive surgical management of prune belly syndrome. METHODS: Thirty-two patients were evaluated and treated for abdominal and genitourinary abnormalities. The surgical procedure, including simultaneous abdominoplasty, bilateral orchiopexy, and urinary tract reconstruction, was performed according to individual needs. At follow-up, the urinary tract, abdominal, and genital anatomy and function were evaluated. RESULTS: The upper urinary tract anatomy and function were stabilized in 30 patients, and no vesicoureteral reflux was found postoperatively. The bladder drainage was adequate in 29 patients, and 4 presented with recurrent bacteriuria. Abdominoplasty improved flaccidity in 29 patients. Adequate testicular position and consistency were obtained in 54 testes. Complications included acute tubular necrosis (1 patient) and ureterovesical obstruction (3 patients). CONCLUSIONS: Individualized comprehensive surgical management of prune belly syndrome is effective, with an acceptable incidence of complications and excellent long-term results.