ABSTRACT
Abstract Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis. Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded. Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities. Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.
Resumo Objetivo: Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico. Métodos: Revisão retrospectiva da idade por ocasião da primeira consulta e motivo dela, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado. Resultados: Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais. Conclusões: Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.
Subject(s)
Humans , Child , Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Retrospective Studies , Karyotype , PediatriciansABSTRACT
OBJECTIVE: Report the results of laparoscopic upper-pole nephroureterectomy in infants. MATERIALS AND METHODS: Six consecutive infants underwent 7 laparoscopic upper-pole nephroureterectomy. Pre and postoperative evaluation included renal sonography, voiding cystourethrogram and renal scintigraphy. All infants showed upper-pole exclusion. Surgery was performed through a transperitoneal approach with full flank position in all infants. Three or 4 ports were used according to the necessity of retracting the liver. The distal ureter was ligated close to the bladder whenever reflux was present and the dysplastic upper-pole was divided with the help of an electrocautery. Data regarding operative time, postoperative use of analgesics, time to resume oral feeding, hospital stay and tubular function were collected and analyzed. RESULTS: All procedures were concluded as planned. Mean operative time was 135 min. One patient underwent staged bilateral upper-pole nephrectomy. There were no complications and the postoperative hospital stay was 48 hours in 5 procedures and 24 hours in 2 procedures. Pain medication was required only in the first day. Renal tubular function showed improvement in half of the cases. CONCLUSION: Laparoscopic partial nephrectomy is a safe and feasible procedure in infants. Due to the magnification provided by the lenses, a better vision of the structures is achieved, facilitating selective dissection of vascular upper-pole, renal parenchyma and distal ureter. This approach is less damaging to the lower pole, and is associated to low morbidity and a short hospital stay.
Subject(s)
Humans , Male , Female , Infant , Kidney/abnormalities , Kidney/surgery , Laparoscopy/methods , Nephrectomy/methods , Pyelonephritis/surgery , Chronic Disease , Length of Stay , Pyelonephritis/diagnosisABSTRACT
OBJECTIVE: Evaluate the results from the first 5 years of experience with laparoscopy for diagnosis and treatment of nonpalpable testes. MATERIALS AND METHODS: Medical records of 51 patients submitted to laparoscopic testicular exploration, during a 5-year period, were retrospectively analyzed. Patients' mean age was 65.7 months (median = 48) on the first procedure. The youngest patient was 10 months and the oldest was 14 years old on the first surgery. Twenty-four (47 percent) patients presented nonpalpable testes bilaterally, 7 (14 percent) only at the right side and 20 (39 percent) at the left, totaling 75 testicular units assessed. Patients who had their testes palpated after anesthetic induction were excluded from the study, and in all other cases, surgical management was based on the testicular position and viability. During the post-operative follow-up, surgical success was classified as palpable testis in scrotal sac, with adequate consistency and volume. RESULTS: Nine (12 percent) testes were not localized, but their vessels and deferent duct were atrophic. Two (3 percent) testes were intra-abdominal and atrophic, and 2 (3 percent) gonads, in the same patient, had a dysmorphic aspect. Nineteen (25 percent) testicular units were located close to the internal inguinal ring (peeping testes) and, in 22 (29 percent) units, the spermatic vessels and deferent duct penetrated the internal inguinal ring. Eight (10 percent) testes were located at a distance of less than 2 cm from the internal inguinal ring and 13 (17 percent) at a distance greater than 2 cm. The 2 intra-abdominal atrophic testes were removed. Inguinotomy was performed in a total of 41 (54 percent) cases, reaching a surgical success of 89 percent. Laparoscopic orchiopexy in one stage, without vascular ligation, was performed in 9 (12 percent) testes, which presented a distance of less than 2 cm from the internal inguinal ring, also with a surgical success index of 89 percent. Orchiopexy in 2 stages, with ligation of the spermatic vessels, was performed in 13 (17 percent) testicular units located at a distance greater than 2 cm from the internal inguinal ring, reaching 77 percent of good results. CONCLUSION: Videolaparoscopy is a safe and effective method for diagnosis and treatment of nonpalpable testis.