Fertility and sexuality issues in congenital lifelong urology patients: male aspects.

PURPOSE: To review existing literature about fertility and sexuality of boys born with complex congenital genitourinary anomalies. METHODS: A Pubmed review was performed in December 2018 to identify the most relevant original manuscripts regarding male complex congenital conditions affecting the urogenital system in male patients including spina bifida (SB), bladder exstrophy-epispadias complex (BEEC) and hypospadias. A comprehensive review was drafted exploring sexual dysfunction from a medical, psychosexual, surgical and reproductive point of view during transition from childhood (or adolescence) to adulthood. RESULTS: About 75% of men with SB have erectile dysfunction (ED) (Gamé et al. in Urology 67(3):566-570, 2006; Diamond et al. in 58(4):434-435, 1986). Most SB patients have impaired sexual development mainly due to diminished self-esteem, dependence on caregivers and lack of privacy (Blum et al. in Pediatrics 88(2):280-285, 1991). Men with BEEC have fewer intimate relationships than women because of the greater difficulties with issues regarding their genitalia and sexual activities (Deans et al. in Am J Obstet Gynecol 206(6):496.e1-496.e6, 2012). However, a good quality of life is achievable with the effective use of coping strategies (Deng et al. in Transl Androl Urol 7:941, 2018; Rikken et al. in BMC Womens Health 18(1):163, 2018; Friedler et al. in Reprod Biomed Online 32(1):54-61, 2016). Chordee occurs in 25% of all hypospadias patients. More severe hypospadias is related to a greater risk for complications. The long-term sexual quality of life (QoL) in men who underwent hypospadias surgery is influenced by a lot of factors. Therefore, an interactive and dynamic biopsychosocial model of sexual QoL was proposed. CONCLUSIONS: The care of patients with congenital urologic conditions becomes a challenge especially in the period of 'transition'. The goal of follow-up is a holistic management viewed from a medical, psychosexual, surgical end reproductive point. All patients should be asked for specific urinary, fecal or sexual concerns.

Segmental Testicular Infarction Associated to Torsion: First Case Report in Childhood.

Testicular torsion in children is not uncommon emergency problem which occur due to twist in the spermatic cord leading to ischemia or infarction to testicle. Hemorrhagic infarction can occur following testicular torsion is globally; however, in extremely rare situation, such infarction can be segmental. Segmental testicular infarction (STI) was reported in an infant due to epididymitis and a newborn with STI in 1 testicle with complete infarction in the contralateral testicle due to birth trauma. To best of our knowledge, our case of STI in a child associated with testicular torsion is the first described in the literature.

Does routine ultrasound change management in the follow-up of patients with vesicoureteral reflux?

INTRODUCTION: Children with vesicoureteral reflux (VUR) usually need a renal ultrasound (RUS). There is little data on the role of follow-up RUS in VUR. We evaluated the impact of follow-up RUS on the change in clinical management in patients with VUR. METHODS: We prospectively analyzed children with a previous diagnosis of VUR seen in the outpatient clinic with a routine follow-up RUS within 4 months. Variables collected included: demographic data, VUR history, dysfunctional voiding symptoms and concurrent ultrasound findings. Change in management was defined as addition of new medication, nurse counselling, surgery or further investigations. RESULTS: The study included 114 consecutive patients. The mean patient age was 4.5 years old, mean age of VUR diagnosis was 1.7 years, with average follow-up of 2.8 years. A change in management with stable RUS occurred in 14 patients, in which the change included ordering a DMSA in 9, nurse counselling for dysfunctional voiding in 3, and booking surgery in 2 patients. Change on RUS was seen in 4 patients. Multivariable analysis showed that history of urinary tract infection (UTI) since the last follow-up visit was more significant than RUS findings. CONCLUSIONS: The RUS findings in most patients followed for VUR remain stable or with minimal changes. The variable showing a significant effect on change in management in our study was history of UTI since the last follow-up visit rather than RUS findings. The value of follow-up RUS for children with VUR may need to be revisited.

Surgical management of pediatric urinary incontinence.

The surgical management of pediatric urinary incontinence secondary to neurogenic bladder and congenital anomalies is challenging, and continues to evolve with new surgical innovations. The goal of these surgical procedures is to achieve complete and socially acceptable urinary dryness, while preserving volitional voiding where possible, without causing damage to the upper tracts. This review focuses on recent studies and highlights the pros and cons of these advances, based on our experience. The short-term success in achieving urinary continence has to be tempered with the long-term implications of these reconstructive procedures, about which our knowledge is limited.

Diagnosis and management of congenital rectourethral fistula in a child with long tubular duplication of the colon and Klippel-Feil syndrome.

We describe a unique association of congenital rectourethral fistula with long tubular duplication of the colon in a boy with Klippel-Feil syndrome and Sprengel deformity. He presented with a rectourethral fistula after surgical repair of a tubular duplication of the terminal ileum, colon, and proximal rectum. Preoperative identification of the fistula was challenging and was only achieved after cystoscopy with injection of methylene blue under pressure through Foley catheters placed into the anus and distal stoma of a colostomy. Surgical repair was performed through the posterior sagittal approach. The patient is doing well after 4 years of follow-up.

Maternal luteoma of pregnancy presenting with virilization of the female infant.

BACKGROUND: Virilization in female newborns typically results from congenital adrenal hyperplasia, requiring immediate diagnosis and treatment. We report a rare cause of virilization, maternal pregnancy luteoma, responsible for virilization of both a newborn and the mother. Luteomas are usually asymptomatic tumour-like ovarian lesions of pregnancy that secrete androgens in only 25% of cases. Many female infants born to masculinized mothers will also be virilized. CASE: A term infant born with ambiguous genitalia was transferred to a referral centre for investigation, diagnosis, and treatment. Assessment identified Prader II-III genitalia, an elevated serum testosterone level, a normal serum 17-hydroxyprogesterone level, and a normal female karyotype (46,XX). The mother had had virilization from the second trimester and was found to have an elevated serum testosterone level. Pelvic ultrasound assessment in the mother showed a complex right ovarian mass. Laparotomy was performed, and the mass was excised. Histopathology examination confirmed a luteoma. CONCLUSION: High maternal serum testosterone levels due to a luteoma can result in virilization in the female newborn. This report emphasizes the need to consider possible underlying maternal pathology in evaluating a virilized female infant.

Mucocolpos associated with bladder exstrophy: a case report.

INTRODUCTION: We present the first reported case demonstrating an association of mucocolpos and bladder exstrophy. MATERIALS: A term baby girl presented with bladder exstrophy and underwent a successful primary bladder closure and ureteral reimplantation. Subsequently, she presented with a fluid-filled pelvic mass which was found to be a mucocolpos. RESULTS: Surgical drainage of the collection was required. CONCLUSION: Mucocolpos should be considered in the differential diagnosis of a pelvic mass in a patient with bladder exstrophy.

Volumetric and histological findings in intra-abdominal testes before and after division of spermatic vessels.

PURPOSE: Increased use of video laparoscopy in the diagnosis and treatment of the impalpable testis has encouraged use of the 2-stage Fowler-Stephens orchiopexy. To date, however, few limited studies exist to indicate whether clipping and division of the spermatic vessels alone may cause histological abnormalities in the intra-abdominal testis. MATERIALS AND METHODS: We evaluated histology and volume of 44 intra-abdominal testes in 35 patients between 4 months and 14 years old at stages 1 and 2 of the Fowler-Stephens procedure. RESULTS: There was a significant reduction in the number of spermatogonia and seminiferous tubules 6 months after ligation and division of the spermatic vessels. No differences were found in the number of Sertoli cells or testicular volume before and after clipping and division of the spermatic vessels. CONCLUSIONS: Ligation of the spermatic vessels during stage 1 orchiopexy for intra-abdominal testicles is associated with a significant reduction of spermatogonia. However, no significant changes were observed in the volumetric characteristics of the testicles. Further studies are necessary to evaluate the repercussions of these changes in future fertility.

Genitalia ambigua: impacto nos pais comparativamente as malformacoes nao genitais / Ambiguous genitalia: parent's impact comparative to non-genital malformations

O objetivo do presente estudo interdisciplinar e o de comparar o impacto verificado nos pais de criancas portadoras de genitalia ambigua ou de outras malformacoes nao-genitais. Foram estudadas 40 familias, 30 com criancas com genitalia ambigua e 10 com outras malformacoes. Todas as criancas estudadas tinham idade inferior a 12 meses. As 19 variaveis estudadas, obtidas atraves de entrevistas padronizadas, foram avaliadas qualitativa (analise de conteudo) e quantitativamente (teste exato de Fisher). Os sentimentos mais evidenciados pelos pais de criancas com genitalia ambigua estao relacionados com o ambiente social ou com a identidade social ou de genero. Os pais de criancas com outras malformacoes, entretanto, referem sentimentos de perda ou de preocupacao com a qualidade de vida futura de seus filhos

Malformaçöes da genitalia masculina em neonatos / Congenital anomalies of male external genitalia in newborns

Num periodo de 9 meses foram examinadas a genitalia externa de 463 neonatos do sexo masculino nascidos a termo. A idade das maes variava entre 13 e 46 anos e dos pais de 17 a 75, tendo a maioria das maes de 19 a 30 anos e pais de 20 a 40 anos. Mais de 80 por cento dos pais eram caucasianos e 41,7 por cento das criancas eram primogenitas. A malformacao mais frequente encontrada foi ausencia uni ou bilateral de testiculos na bolsa escrotal em 25 criancas, microphallus em 10, torcao do penis e 5, hipospadia em 3, todos com prepucio dorsal e 1 com bolsa escrotal bifidia. Foram achadas variacos anatomicas em grande numero, incluindo aderencia balanoprepucial completa em 409, eixo do penis desviado em 48, insercao alta da bolsa escrotal em 70, hidrocele em 17 e rafe mediana do penis desviada em 156

Estenose hipertrófica de Piloro: comunicaçäo de 25 casos consecutivos operados no Hospital de Clínicas de Porto Alegre / Hypertrophic pyloric stenosis: 25 consecutive cases subjected to surgery at the Hospital das Clínicas de Porto Alegre

A estenose hipertrófica de piloro é uma anormalidade da musculatura pilórica, ocasionando obstruçäo gástrica parcial na infância. Foram revisados 25 casos de estenose hipertrófica de piloro operados no HCPA no período de 1982 a 1987. Säo enfatizados as incidências racial e etária e a predominância do sexo. No diagnóstico é ressaltada a importância da história de vômitos claros (näo biliosos), a presença de ondas peristálticas visíveis e a palpaçäo do piloro hipertrofiado (oliva pilórica). Com estes achados näo é necessário a realizaçäo de exames radiológicos complementares. Ressalta-se ainda o desequilíbrio hidro eletrolítico ocasionado pela obstruçäo pilórica e a maneira de corrigí-lo antes da cirurgia. Todos os casos foram operados pela piloromiotomia de Fredet-Ramsted, salientando-se as complicaçöes precoces e tardias

Hamartoma mesenquimal do fígado / Mesenchymal hamartoma of liver

Nos últimos doze anos, foram tratados pelos cirurgiöes pediátricos do Hospital da Criança Conceiçäo cinco crianças com hamartoma mesenquimal do fígado, uma lesäo congênita que tem sido muito confundida com outras malformaçöes e tumores hepáticos. A lesäo, predominantemente cística, é caracterizada pela mistura de um estroma de tecido conetivo frouxo abundante e edematoso com formaçäo de cistos e de estruturas epiteliais ductais. Os pacientes costumam ser assintomáticos, apresentando uma distensäo abdominal progressiva e/ou massa abdominal palpável, principalmente, nos dois primeiros anos de vida. As provas funcionais hepáticas säo normais, sendo a ecografia o exame subsidiário mais útil ao diagnóstico. O tratamento consiste na enudeaçäo da lesäo, sendo evitada qualquer cirurgia mais ampliada como a lobectomia hepática, pois é uma massa com características benignas