Testicular adrenal rest tumors - Epidemiology, diagnosis and treatment.

INTRODUCTION: Testicular adrenal rest tumors (TART) are common in males suffering from congenital adrenal hyperplasia (CAH). Correct and timely diagnosis is important for differential diagnosis with malignant testis tumors, related infertility and as TART may worsen in time, especially in the absence of adequate and continuous hormonal control. The rarity of the disease, predominance of small cohorts and case reports and research heterogeneity (concerning type of CAH, patients' age and specific focus of the paper) complicate the understanding of this condition. OBJECTIVES: To review epidemiological and clinical aspects of TART, including treatment and prognosis. METHODS: Non-systematic review of CAH-related TART research. RESULTS: TART's prevalence grows progressively over time, predominating after puberty, affecting a mean of 20-40 % of CAH males. There is no proof of more frequent proportional affection of specific CAH phenotypes or types of enzyme deficiency, but cases of TART among non-classic CAH patients have been rarely reported. Chronic undertreated are more frequently affected and present larger tumors. Systematic ultrasound screening of CAH males is the state-of-the art for diagnosis, but TART are still often diagnosed in CAH adults seeking infertility treatment. TART are usually asymptomatic and present normal testicular volume. Biopsies are not recommended, except when the differential diagnosis between TART and testicular tumors cannot be guaranteed. Abnormal semen analysis is common. Leydig cell tumors are the main differential diagnosis, due to histological similarities to TART. Misdiagnosis may lead to unnecessary orchiectomies. Preservation of gonadal functions is inversely proportional to the total tumor volume. Tumors tend to regress under adequate adrenal suppression with steroids. Surgery in not indicated to treat TART. DISCUSSION: The reported prevalence of TART depends on age, usage of systematic follow-up ultrasound, and adequate CAH control. Timely detection of the disease is important to avoid irreversible gonadal dysfunction (not clinically apparent, due to high serum levels of androgen) and infertility. The relationship between TART and specific CAH phenotypes/genotypes has not been proved, and some cases do not present abnormal serum ACTH levels. Knowledge about TART should be disseminated among non-experts, to avoid unnecessary orchiectomies and false diagnosis of malignant testis tumors. Infertility is frequent, but has not been not satisfactorily addressed by physicians, even among experts. Sperm cryopreservation should be early offered to CAH adult males, but there are offer problems related to high cost.

[How much does a specialized medical consultation cost for families of pediatric patients in the Brazilian Unified National Health System?] / Quanto custa uma consulta médica especializada para as famílias de pacientes pediátricos no Sistema Único de Saúde?

In this study, we investigated the costs of transportation for each outpatient consultation in patients referred to specialized surgical evaluation in a tertiary hospital in Rio de Janeiro, Brazil. Descriptive study with guardians of pediatric patients scheduled for pediatric surgery, questioning transportation cost, and opportunity costs (loss of remuneration, food, payment of caregivers for other children, expenses for other companions). About half patients were aged up to five years; about two thirds had diseases of simple and definitive surgical resolution; and 181 families (89.17%) presented monthly family income up to BRL 1,999.00. The proportion of families that benefited from free transportation ranged from 4.26% to 15.56% for patients living up to 100 km away from the hospital (45.83% for patients living more than 100 km away from the institution). A total of 176 (87.13%) guardians reported expenses buying food, 12 (5.94%) paid caregivers to the other children on the day of the consultation, and 80 (39.6%) reported loss of remuneration for the working day. Among the high complexity cases, 9.33% of the mothers have given up their regular paid employment. Transportation expenses for a pediatric surgery consultation at a reference hospital in Rio de Janeiro cost about 4.42% of the current minimum wage, spending around 217.32 minutes of displacement/consultation. Expenses with food and loss of remuneration due to absence at work also entail significant financial charges or loss of remuneration for the patient at each consultation.

Nesta pesquisa, estudamos os custos de transporte por consulta ambulatorial em pacientes referenciados para avaliação cirúrgica especializada em um hospital terciário no Rio de Janeiro, Brasil. Trata-se de um estudo descritivo com responsáveis por pacientes pediátricos agendados para consulta de cirurgia pediátrica, questionando fatores ligados ao custo de transporte e de oportunidade (perda de remuneração, alimentação, pagamento de cuidadores para outros filhos, despesas para outros acompanhantes). Aproximadamente metade dos pacientes tinham até 5 anos de idade, cerca de 2/3 apresentavam doenças de resolutividade cirúrgica simples e definitiva e 181 famílias (89,17%) contavam com renda familiar mensal de até R$ 1.999,00. A proporção de famílias beneficiadas por transporte gratuito variou entre 4,26-15,56% para pacientes morando até 100km de distância do hospital (45,83% para pacientes com residência a mais de 100km da instituição). Dos responsáveis, 176 (87,13%) relataram despesas para alimentação, 12 (5,94%) pagavam cuidadores para os outros filhos no dia da consulta e 80 (39,6%) referiram perda do pagamento do dia de trabalho. Dos casos de alta complexidade, 9,33% das mães entrevistadas abriram mão de exercer atividade remunerada regular. As despesas com transporte para uma consulta em cirurgia pediátrica em um hospital de referência do Rio de Janeiro custam em média 4,42% do salário mínimo vigente, com uma média de 217,32 minutos de deslocamento por consulta. Despesas com alimentação e perda de remuneração pela ausência no trabalho também implicam encargos financeiros ou perda de remuneração significativos para o paciente em cada consulta.

En esta investigación se estudiaron los costes de transporte por visita ambulatoria en pacientes remitidos para evaluación quirúrgica especializada en un hospital de atención terciaria en Río de Janeiro, Brasil. Es un estudio descriptivo con responsables de pacientes pediátricos programados para consulta de cirugía pediátrica, en el que se cuestionaron factores relacionados con el coste del transporte y los costes de oportunidad (pérdida de remuneración, alimentación, pago de cuidadores de otros niños, gastos de otros cuidadores). Aproximadamente la mitad de los pacientes tenían hasta 5 años de edad; cerca de 2/3 presentaban enfermedades de resolución quirúrgica simple y definitiva, 181 familias (89,17%) con renta familiar mensual de hasta BRL 1.999,00. La proporción de familias que se benefician de transporte gratuito varía entre el 4,26% y el 15,56% para los pacientes que viven hasta a 100 km del hospital (45,83% para los pacientes que viven a más de 100 km de la institución). Ciento setenta y seis (87,13%) cuidadores declaran gastos de alimentación, 12 (5,94%) pagan a los cuidadores de sus otros hijos en el día de la consulta y 80 (39,6%) declaran pérdida de salario por la jornada laboral. De los casos de alta complejidad, el 9,33% de las madres entrevistadas habían abandonado su actividad remunerada habitual. Los gastos de transporte para una consulta de cirugía pediátrica en un hospital de referencia de Río de Janeiro cuestan de media el 4,42% del salario mínimo vigente, con una media de 217,32 minutos de tiempo de viaje/consulta. Los gastos de alimentación y la pérdida de salario por ausencia en el trabajo también implican una importante carga económica o pérdida de salario para el paciente en cada cita.

Quanto custa uma consulta médica especializada para as famílias de pacientes pediátricos no Sistema Único de Saúde? / How much does a specialized medical consultation cost for families of pediatric patients in the Brazilian Unified National Health System? / ¿Cuánto cuesta una consulta médica especializada para las familias de pacientes pediátricos en el Sistema Único de Salud brasileño?

Nesta pesquisa, estudamos os custos de transporte por consulta ambulatorial em pacientes referenciados para avaliação cirúrgica especializada em um hospital terciário no Rio de Janeiro, Brasil. Trata-se de um estudo descritivo com responsáveis por pacientes pediátricos agendados para consulta de cirurgia pediátrica, questionando fatores ligados ao custo de transporte e de oportunidade (perda de remuneração, alimentação, pagamento de cuidadores para outros filhos, despesas para outros acompanhantes). Aproximadamente metade dos pacientes tinham até 5 anos de idade, cerca de 2/3 apresentavam doenças de resolutividade cirúrgica simples e definitiva e 181 famílias (89,17%) contavam com renda familiar mensal de até R$ 1.999,00. A proporção de famílias beneficiadas por transporte gratuito variou entre 4,26-15,56% para pacientes morando até 100km de distância do hospital (45,83% para pacientes com residência a mais de 100km da instituição). Dos responsáveis, 176 (87,13%) relataram despesas para alimentação, 12 (5,94%) pagavam cuidadores para os outros filhos no dia da consulta e 80 (39,6%) referiram perda do pagamento do dia de trabalho. Dos casos de alta complexidade, 9,33% das mães entrevistadas abriram mão de exercer atividade remunerada regular. As despesas com transporte para uma consulta em cirurgia pediátrica em um hospital de referência do Rio de Janeiro custam em média 4,42% do salário mínimo vigente, com uma média de 217,32 minutos de deslocamento por consulta. Despesas com alimentação e perda de remuneração pela ausência no trabalho também implicam encargos financeiros ou perda de remuneração significativos para o paciente em cada consulta.

In this study, we investigated the costs of transportation for each outpatient consultation in patients referred to specialized surgical evaluation in a tertiary hospital in Rio de Janeiro, Brazil. Descriptive study with guardians of pediatric patients scheduled for pediatric surgery, questioning transportation cost, and opportunity costs (loss of remuneration, food, payment of caregivers for other children, expenses for other companions). About half patients were aged up to five years; about two thirds had diseases of simple and definitive surgical resolution; and 181 families (89.17%) presented monthly family income up to BRL 1,999.00. The proportion of families that benefited from free transportation ranged from 4.26% to 15.56% for patients living up to 100 km away from the hospital (45.83% for patients living more than 100 km away from the institution). A total of 176 (87.13%) guardians reported expenses buying food, 12 (5.94%) paid caregivers to the other children on the day of the consultation, and 80 (39.6%) reported loss of remuneration for the working day. Among the high complexity cases, 9.33% of the mothers have given up their regular paid employment. Transportation expenses for a pediatric surgery consultation at a reference hospital in Rio de Janeiro cost about 4.42% of the current minimum wage, spending around 217.32 minutes of displacement/consultation. Expenses with food and loss of remuneration due to absence at work also entail significant financial charges or loss of remuneration for the patient at each consultation.

En esta investigación se estudiaron los costes de transporte por visita ambulatoria en pacientes remitidos para evaluación quirúrgica especializada en un hospital de atención terciaria en Río de Janeiro, Brasil. Es un estudio descriptivo con responsables de pacientes pediátricos programados para consulta de cirugía pediátrica, en el que se cuestionaron factores relacionados con el coste del transporte y los costes de oportunidad (pérdida de remuneración, alimentación, pago de cuidadores de otros niños, gastos de otros cuidadores). Aproximadamente la mitad de los pacientes tenían hasta 5 años de edad; cerca de 2/3 presentaban enfermedades de resolución quirúrgica simple y definitiva, 181 familias (89,17%) con renta familiar mensual de hasta BRL 1.999,00. La proporción de familias que se benefician de transporte gratuito varía entre el 4,26% y el 15,56% para los pacientes que viven hasta a 100 km del hospital (45,83% para los pacientes que viven a más de 100 km de la institución). Ciento setenta y seis (87,13%) cuidadores declaran gastos de alimentación, 12 (5,94%) pagan a los cuidadores de sus otros hijos en el día de la consulta y 80 (39,6%) declaran pérdida de salario por la jornada laboral. De los casos de alta complejidad, el 9,33% de las madres entrevistadas habían abandonado su actividad remunerada habitual. Los gastos de transporte para una consulta de cirugía pediátrica en un hospital de referencia de Río de Janeiro cuestan de media el 4,42% del salario mínimo vigente, con una media de 217,32 minutos de tiempo de viaje/consulta. Los gastos de alimentación y la pérdida de salario por ausencia en el trabajo también implican una importante carga económica o pérdida de salario para el paciente en cada cita.

Bladder exstrophy: We need to improve. A lot.

INTRODUCTION: Bladder exstrophy (BE) affects continence and sexual function, impacting on social life and mental health. Long-term data from the patients' point of view are needed to get a real-life perspective on the problem. STUDY DESIGN: A self-developed questionnaire concerning sexual, psychosexual and psychosocial outcomes was sent to the adult members of the Brazilian Exstrophy Group. RESULTS: Fifty out of 67 adults from the group (74.5%) responded to the questionnaire. Failure of initial bladder closure attained 62%. Almost ¾ of the patients had augmentation cystoplasty. Bladder lithiasis was common. Esthetic procedures were frequently done. Repetitive UTI (n = 32, 64%) and kidney scars/disease (n = 20, 40%) were frequent. Most (88%) patients either depend on CIC or remain incontinent. Sexual problems predominated in males. Surgery for continence often failed, requiring re-operations, but the prognosis without these procedures was comparatively worse. Continent patients underwent more surgeries (mean 18, 13 and 9 procedures in continent, imperfectly continent and incontinent patients, respectively). Augmented patients more frequently achieved dryness (p = 0.0035). Two-thirds of the women underwent vaginoplasties, but dyspareunia/feeling of "tight" vagina still affected a quarter of them. Four women (15.4%) delivered healthy children. 91.7% of the males reported "normal" erections, but sexual inhibition was common due to feeling of having a small penis (n = 18, 75%). Persistent dorsal curvature and abnormal ejaculation were common (58.3% and 77.1%, respectively). Patients' comments related mainly to mental health issues/need for specialized care, limitations of medicine to cure/treat their disease, unavailability of experts, especially adult specialists, embarrassment over deformities and insufficient information about disease/treatment/prognosis. DISCUSSION: Most BE patients are well-integrated into society, but feelings of sadness and low self-esteem are common. Most welcome procedures to become dry, despite self-catheterization. The results of bladder neck reconstruction are far from perfect, despite multiple attempts and bladder augmentation was often necessary. Volitional voiding is uncommon. Sexual problems are worse for males, and sexual avoidance is common. Sexual function and self-image are inter-related. It seems reasonable to offer selective esthetic procedures to improve social/sexual interaction. Obstetric complications are common, especially UTI, need for ureteral and/or conduit stenting, abnormal fetal positioning, uterine prolapse, technical problems during surgical deliveries and prematurity. CONCLUSION: Continence/dryness in BE was mostly eventually achieved, usually depending on multiple interventions, bladder augmentation and self-catheterization. Despite multiple surgeries many adults remain incontinent. Sexual problems and avoidance are the rule in males, due to the feelings of penile inadequacy. Pregnant females deserve expert obstetric care.

Post-tracheostomy tracheoinnominate fistula: endovascular treatment / Fístula traqueoinominada pós-traqueostomia: tratamento endovascular

ABSTRACT Objective: Tracheoinnominate fistula (TIF) is a rare and frequently lethal complication of tracheostomies. Immediate bleeding control and surgical treatment are essential to avoid death. This report describes the successful endovascular treatment of TIF in a preschooler and reviews the literature concerning epidemiology, diagnosis, prophylaxis, and treatment of TIF in pediatric patients. Case description: A tracheostomized neurologically impaired bed-ridden three-year-old girl was admitted to treat an episode of tracheitis. Tracheostomy had been performed two years before. The child used a plastic cuffed tube continually inflated at low pressure. The patient presented two self-limited bleeding episodes through the tracheostomy in a 48h interval. A new episode was suggestive of arterial bleeding, immediately leading to a provisional diagnosis of TIF, which was confirmed by angiotomography, affecting the bifurcation of the innominate artery and the right tracheal wall. The patient was immediately treated by the endovascular placement of polytetrafluoroethylene (PTFE)/nitinol stents in Y configuration. No recurrent TIF, neurological problems, or right arm ischemia have been detected in the follow-up. Comments: TIF must be suspected after any significant bleeding from the tracheostoma. Endovascular techniques may provide rapid bleeding control with low morbidity, but they are limited to a few case reports in pediatric patients, all of them addressing adolescents. Long-term follow-up is needed to detect whether stent-related vascular complications will occur with growth.

RESUMO Objetivo: As fístulas traqueoinominadas (TIF) são complicações raras e frequentemente letais das traqueostomias (TQT). Controle imediato do sangramento e tratamento cirúrgico são essenciais para evitar a morte. Este trabalho relata o tratamento endovascular bem-sucedido de uma TIF em um pré-escolar e revisa a literatura a respeito da epidemiologia, profilaxia, diagnóstico e tratamento de TIF em pacientes pediátricos. Descrição do caso: Uma criança de 3 anos de idade, com encefalopatia, restrita ao leito e traqueostomizada havia dois anos foi internada para tratar um episódio de traqueíte. A criança usava uma cânula plástica balonada continuamente inflada com baixa pressão. A paciente apresentou dois episódios autolimitados de sangramento pela traqueostomia em um intervalo de 48 horas. Um novo episódio foi sugestivo de sangramento arterial e assumiu-se o diagnóstico provisório de TIF, confirmado através de angiotomografia, atingindo a bifurcação da artéria inominada e a parede direita da traqueia. A paciente foi imediatamente tratada pela inserção endovascular de um enxerto de politetrafluoroetileno (PTFE)/nitinol em "Y". No seguimento, não foram encontradas recorrência de TIF, sequelas neurológicas ou isquemia do braço direito. Comentários: Deve-se suspeitar de TIF sempre que houver um sangramento significativo pelo traqueoestoma. Técnicas endovasculares possibilitam o rápido controle do sangramento com baixa morbidade, mas estão limitadas a poucos relatos de caso e pacientes pediátricos, sendo todos em adolescentes. O seguimento a longo prazo é necessário para avaliar se ocorrem complicações vasculares dos stents com o crescimento.

Post-tracheostomy tracheoinnominate fistula: endovascular treatment.

OBJECTIVE: Tracheoinnominate fistula (TIF) is a rare and frequently lethal complication of tracheostomies. Immediate bleeding control and surgical treatment are essential to avoid death. This report describes the successful endovascular treatment of TIF in a preschooler and reviews the literature concerning epidemiology, diagnosis, prophylaxis, and treatment of TIF in pediatric patients. CASE DESCRIPTION: A tracheostomized neurologically impaired bed-ridden three-year-old girl was admitted to treat an episode of tracheitis. Tracheostomy had been performed two years before. The child used a plastic cuffed tube continually inflated at low pressure. The patient presented two self-limited bleeding episodes through the tracheostomy in a 48h interval. A new episode was suggestive of arterial bleeding, immediately leading to a provisional diagnosis of TIF, which was confirmed by angiotomography, affecting the bifurcation of the innominate artery and the right tracheal wall. The patient was immediately treated by the endovascular placement of polytetrafluoroethylene (PTFE)/nitinol stents in Y configuration. No recurrent TIF, neurological problems, or right arm ischemia have been detected in the follow-up. COMMENTS: TIF must be suspected after any significant bleeding from the tracheostoma. Endovascular techniques may provide rapid bleeding control with low morbidity, but they are limited to a few case reports in pediatric patients, all of them addressing adolescents. Long-term follow-up is needed to detect whether stent-related vascular complications will occur with growth.

Coronal sulcus-based ventral mucosal flap to help penile coverage in severe concealed penis.

Introduction: There are many techniques to treat congenital concealed penis (CP). Skin resurfacing is the most difficult step in severe cases. We aim to show medium-term results of coronal sulcus-based triangular ventral mucosal flap (CBVMF) as a treatment of prepubertal severe CP, a recently reported technique. We aim to determine whether results are durable and if the technique is associated with persistent mucosal redundancy or with a permanent unequal penile color pattern. Methods: CP cases reconstructed with CBVMF were reviewed. Preoperative complaints, degree of motivation of the child/parent to surgery, satisfaction of parent/child with results, and surgical complications were described. Results: Seven patients (6 months to 6 years old) were treated with CBVMP. Two patients showed megaprepuce and another was submitted to a limited postectomy 3 years before. One family was not fully satisfied (expected "bigger penis"), but acknowledged that the penis was now well exposed. No child talked about the problem preoperatively, but all of the boys were fully satisfied with the results of the surgery and verbalized this in the interviews. Flap edema resolved after 3 months in all but one patient. The flaps assumed the color of penile skin in the medium term. Conclusions: CBMVP results were satisfactory. Serious complications did not occur. Flap edema does not persist in the medium term, and redundancy was not a problem. The color of the flap tended to evolve into a pattern similar to the penile skin.

Idiopathic hemorrhagic urethritis of childhood.

INTRODUCTION: idiopathic hemorrhagic urethritis of childhood (IHU) is uncommon. Data about the disease are limited. There are no available protocols for diagnosis, treatment, or follow-up and prognostic factors are unknown. OBJECTIVE: We aim to review the available data about IHU, to organize and to synthesize information, to facilitate clinical choices and the establishment of future research protocols. STUDY DESIGN: Descriptive review of the literature. RESULTS: The disease typically affects peri-pubertal boys. A third evolve to chronic disease and circa 15% develop urethral stenoses. Voiding dysfunction is frequent. Acute scrotum secondary to orchiepididymitis may occur. Meatal stenosis and hypospadias are more frequent than in the general population. Diagnosis is clinical (urethrorrhagia ± dysuria). Complementary exams are mostly used for differential diagnosis. Indications for cystoscopy are controversial. Bulbar urethral inflammation with fibrinous "membranes" are typical. Treatment is controversial and mostly expectant. Topical steroids and indwelling catheterization are the most successful for severe or recalcitrant cases (summary table). CONCLUSION: IHU turns into a chronic condition in a significant proportion of the cases and associates to a low quality of life. Urethral stenosis is the most common complication. Indications for diagnostic cystoscopy, prolonged catheterization, and steroid prescription need to be better defined. Clinical protocols are deeply needed.

Thyroid-like follicular carcinoma of the kidney presenting on a ten year-old prepubertal girl

ABSTRACT The very rare thyroid-like carcinoma of the kidney (TLCK) is microscopically similar to thyroid follicular cell carcinoma (TFCC). Differential diagnosis with secondary thyroid tumors depends on non-reactivity to immunohistochemical (IHC) markers for TFCC (thyroglobulin - TG and TTF1). We herein describe the fourth Pediatric case in literature and extensively review the subject. Only 29 cases were published to the moment. Most cases were asymptomatic and incidentally detected. Most tumors are hyperechoic and hyperdense with low grade heterogenous enhancement on CT and MRI. Most patients were treated with radical nephrectomy, but partial nephrectomy was used in some cases, apparently with the same results. Metastases are uncommon and apparently do not change prognosis, but follow-ups are limited. Up to the moment, TLCK presents as a low grade malignancy that may be treated exclusively with surgery and frequently with partial kidney renal preservation. A preoperative percutaneous biopsy is a common procedure to investigate atypical tumors in childhood and adult tumors. To recognize the possibility of TLCK is fundamental to avoid unnecessary thyroidectomies in those patients, supposing a primary thyroid tumor.

Thyroid-like follicular carcinoma of the kidney presenting on a 10 year-old prepubertal girl.

The very rare thyroid-like carcinoma of the kidney (TLCK) is microscopically similar to thyroid follicular cell carcinoma (TFCC). Differential diagnosis with secondary thyroid tumors depends on non-reactivity to immunohistochemical (IHC) markers for TFCC (thyroglobulin - TG and TTF1). We herein describe the fourth Pediatric case in literature and extensively review the subject. Only 29 cases were published to the moment. Most cases were asymptomatic and incidentally detected. Most tumors are hyperechoic and hyperdense with low grade heterogenous enhancement on CT and MRI. Most patients were treated with radical nephrectomy, but partial nephrectomy was used in some cases, apparently with the same results. Metastases are uncommon and apparently do not change prognosis, but follow-ups are limited. Up to the moment, TLCK presents as a low grade malignancy that may be treated exclusively with surgery and frequently with partial kidney renal preservation. A preoperative percutaneous biopsy is a common procedure to investigate atypical tumors in childhood and adult tumors. To recognize the possibility of TLCK is fundamental to avoid unnecessary thyroidectomies in those patients, supposing a primary thyroid tumor.

Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea?

INTRODUCTION: The frequency of gender dysphoria (GD) among 46,XX congenital adrenal hyperplasia (CAH) patients is unknown. These data are needed to put into perspective the debate about the timing of reconstructive surgery and possible male-raising of the most severely virilized children. OBJECTIVE: To analyze the frequency of female to male GD between 46,XX individuals raised as females; to identify subgroups with higher chances of showing GD; to describe the results of male-raising among 46,XX CAH patients. MATERIALS AND METHODS: Analytic/descriptive literature review (January 1988 to April 2018). RESULTS: Female-raised patients frequently report the desire to be male, adopt male-typical behavior and are frequently homosexual/bisexual as adults, but this does not correspond to GD. Declared GD among 46,XX CAH patients attained 9% of the reported cohorts, generally in late adolescence/adulthood. We could not prove a relationship between inadequate treatment, null-genotype, late diagnoses, a higher degree of virilization, type of CAH or higher levels of androgens and female to male GD, but this may be due to statistical limitations. Male gender raised patients (MGR) were 10.1% of CAH cohorts included in this review, mostly from underdeveloped countries, with a high proportion of late diagnoses (76.3%) and familial choices. GD was more common in this group than among female-raised patients. Opting for male gender relates to a short final height, the need for multiple surgeries, surgical castration before puberty and infertility. CONCLUSION: Both male to female and female to male GD may present in 46,XX CAH patients in a contemporaneous cohort. The proportion of GD is higher among patients raised as males. DSD patients sexual maladjustments are complex and not comparable to the transgender population. Many 46,XX CAH patients with GD define themselves as gender-fluid and do not seek for legal/formal transition. Male-raising Prader 4/5 46,XX CAH patients imply infertility and multiple surgeries. There is no proof that any subgroup of CAH is more prone to GD, despite null genotypes, salt wasting phenotypes and Prader 4/5 cases being related to male-typical behavior and female homosexuality. TYPE OF STUDY: Descriptive/analytic non-systematic REVIEW. LEVEL OF EVIDENCE: 3.

Negative pressure wound therapy in pediatric surgery: How and when to use.

INTRODUCTION: Negative pressure wound therapy (NPWT) has been widely adopted to treat laparostomy, abdominal compartment syndrome (ACS) and complicated wounds associated with tissue loss. The method presents specific aspects, advantages and indications in Pediatrics. Our aim is to review the evidence available about NPWT in children. METHODS: Active search for papers about NPWT in Pediatric patients. Papers referring to orthopedic problems, wound complications after Cardiac Surgery or burns were excluded. RESULTS: The method shows good results to treat ACS, complicated wounds and abdominal wall malformations in neonates, including prematures. Periwound skin protection, monitoring of fluid losses and fine tuning of negative pressure levels according to age are necessary. Less pain, quicker recovery, less frequent dressing changes, possible recovery of exposed surgical hardware, granulation and shrinkage of the wound are advantages of the method over other kinds of dressing. NPWT is contraindicated over blood vessels and exposed nerves. Debridement is needed before usage over necrotic areas. Enteric fistulae are not contraindications. Complications are rare, mainly foam retention and dermatitis/skin maceration. The possibility of fistulae being caused by NPWT remains debatable. CONCLUSION: NPWT is widely used in Pediatrics, including neonates and premature, but the evidence available about the method is scarce and low quality. Complications are uncommon and mostly manageable. A possible causal relationship between NPWY and enteric fistula remains unclear. Adult devices and parameters have been adapted to children's use. Extra care is needed to protect the delicate tissues of Pediatric patients. Comparative research to define differential costs, indications and advantages of the method, specific indications and limits of NWTP in Pediatrics is needed. TYPE OF STUDY: Review. EVIDENCE LEVEL: IV.

Transperineal Ultrasound as a Tool to Plan Surgical Strategies in Pediatric Urology: Back to the Future?

OBJECTIVE: To demonstrate the usefulness and advantages of transperineal ultrasound (TPUS) on planning the surgical tactics to treat childhood pelviperineal disease (CPPD). METHODS: A cohort of CPPD is reviewed to provide a pictorial review of TPUS as imaging method variety of CPPD. Other imaging methods are compared with TPUS. RESULTS: TPUS studies of patients showing different conditions on the spectrum of pelviperineal malformation are shown in detail (pictorial review, graphically shown-see figures in the article and as supplementary material), highlighting the advantages of the method and comparing TPUS findings with other imaging techniques. CONCLUSION: Magnetic resonance imaging, contrast genitograms, voiding cystourethrography, and genital or urologic endoscopy have some important disadvantages, especially radiation exposure, high cost, not easily available equipment, and the need of general anesthesia or deep sedation in children. TPUS is easily available, including in impoverished environments, portable, painless, reproducible, inexpensive, and capable of providing detailed and specific information about pelviperineal malformation with accuracy. Data provided by TPUS are comparable with other imaging techniques (Table 1). Its main disadvantage is the dependency on the expertise of the operator to obtain high-quality, well-interpreted images.

Glans duplication: In-depth review and proposal of a new classification.

BACKGROUND: Diphallia is a very uncommon malformation, and glans duplication (GD) is its rarest form. In this last group, patients normally present with esthetic/sexual complaints or obstructed voiding late in life after pubertal genital development. Associated malformations are uncommon and relatively mild in those cases. METHODS: After a case presented, we present herein an extensive review of GD, as the disease is rare, and there is very little about its treatment and there are diverse approaches to address the condition. RESULTS: After an extensive review of the available literature, we carefully analyzed each published case to describe specific aspects of their clinical presentation (age, main complaint, voiding/urethral problems, and individual anatomy) and treatment. CONCLUSION: This review allowed us to propose a new classification for diphallia into four groups (true diphallia, hemiphallus, pseudodiphallia, and partial duplication), considering embryological, anatomical, clinical, and therapeutic implications (see Fig. 1). Glans duplications present as esthetic/sexual cases or show abnormal voiding patterns caused by urethral associated abnormalities. Reconstructive techniques may be simple (resection of a hypoplastic accessory glans + urethra) or relatively complex (glans and/or urethral reconstruction).

Clitoral Abnormalities in the Absence of Virilization: Etiology and Treatment Strategies.

OBJECTIVE: To report 3 cases of pseudoclitoromegaly and to describe the strategies used for differential diagnosis and treatment. METHODS: Three cases and a literature review were described in this study. RESULTS: Three cases referred for treatment of clitoromegaly were in fact cases of pseudoclitoromegaly caused by a hamartoma, a neurofibroma, and a hemangioma of the clitoral prepuce. Abnormal virilization was excluded and the tumors were successfully treated by surgical resection and genital esthetic reconstruction. CONCLUSION: Clitoral abnormalities not associated with virilization syndromes are rare. Isolated abnormalities may affect the clitoris and the clitoral prepuce (pseudoclitoromegaly) and have multiple causes. The most frequent are inclusion cysts secondary to female circumcision, but a multiplicity of tumors, usually benign, may be found. Treatment is surgical, except for most infantile hemangiomas. Before deciding to offer surgical treatment, one should consider the degree of genital deformity and the risks of sensitivity loss and/or clitoral ischemia.

Severe forms of concealed penis without hypospadias: Surgical strategies.

INTRODUCTION: Concealed penis (CP) may vary in severity and includes megaprepuce (MP) as a variant. Many different surgical strategies have been described in order to maximize penile exposure and to deal with skin deficiency. We describe the strategies that we use to overcome technical problems in severe cases of CP. MATERIALS AND METHODS: Six consecutive cases of severe CP (including 3 with MP) were treated in a 2-year period between January 2011 and April 2013. These patients were treated using extensive degloving, removal of dysplastic dartos, Alexander's preputial flap, scrotal flaps and skin grafts. Three patients had been previously circumcised. Cases associated with hypospadias, obesity, disorders of sexual differentiation and micropenises were excluded. RESULTS: All six patients attained good results, with good exposure of the penis, ability to void standing with a well-directed flow and reasonable esthetic results. A technical algorithm for the treatment of primary or recurring cases of CP is proposed. CONCLUSION: Alexander' s distally based ventral preputial flap is a useful technical resource to treat MP cases. Free skin grafts and/or laterally based scrotal flaps may be used to cover the penis after release in severe cases of CP.