Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing.

OBJECTIVE: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. METHODS: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. RESULTS: A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. CONCLUSIONS: Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

INTRODUCTION: The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit, severity of genital ambiguity, and karyotype. METHODS: The time of diagnosis was divided into 3 groups: before 2000, between 2000 and 2006, and after 2006. Data were categorized and analyzed using the χ2 test with α < 0.05. RESULTS: A total of 567 cases were analyzed; 307 were assigned as male, 135 as female, and 125 remained undefined at the first visit. After clinical and laboratory evaluations, 369 patients were male and 198 were female. Neither initial nor final sex assignment proportions changed over time, but there were significant differences in the age at first visit, with referral occurring at an earlier age, as well as more severe genital ambiguity presentations, a higher proportion of sex chromosome aberrations, and a lower frequency of 46,XX DSD cases. This occurred both in the sample as a whole (567 cases) and in the group of 125 patients without definitive sex assignment at the first visit. The results were similar when only 284 patients aged less than 12 months at the first visit were analyzed. DISCUSSION/CONCLUSION: Over time, there were no changes in sex assignment proportions, but there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects.

"Inflammatory peritonitis in a child with COVID-19″.

COVID-19 is the disease caused by SARS-COV-2 coronavirus infection (Severe acute respiratory syndrome coronavirus 2). Although its most prevalent symptoms are respiratory, there are descriptions of gastrointestinal manifestations in children, but the presentation as an acute abdomen is rare. We report the case of a 6-month-old infant who was admitted with a diagnosis of intestinal obstruction and generalized peritonitis with no apparent cause, in whom a SARS-CoV-2 rt-PCR search was positive. We have not found descriptions of similar cases in the literature so far.

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service / Por que os pediatras precisam conhecer os distúrbios da diferenciação do sexo: experiência de 709 casos de um serviço especializado

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.

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service.

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.

Evaluation of a simple valve mechanism used to stabilize intraabdominal pressure during surgically induced pneumoperitoneum in small animals.

BACKGROUND: Preventing sudden changes in intraabdominal pressure (IAP) during surgical pneumoperitoneum may reduce adverse events. This study aimed to describe a valve system that stabilizes intraabdominal pressure, minimizing complications of erratic fluctuations in IAP. METHODS: Five male Sprague-Dowley rats were submitted to pneumoperitoneum, with the insufflator set sequentially at 5, 10, and 15 mmHg for each rat. Measures of IAP were taken initially without the valve and then using the same insufflator levels with the valve system regulated to three different pressures (5, 10, and 15 mmHg). The mean of the three highest registered pressures during a 15-min observation was used as the maximal pressure, and the mean of the three lowest registered pressures was used as the minimal pressure for each experimental setting. RESULTS: Without the valve system, the pressure level set by the insufflator correlated poorly with the actual IAP. When the valve system was used, the IAP pressure was limited by the valve settings regardless of the insufflator settings. Also, the variability of IAP was significantly higher when no valve was used than in all situations that had implementation of the system. CONCLUSIONS: The valve system was very effective in stabilizing IAP, allowing a reproducible and reliable estimate of IAP and greatly reducing the variability resulting from the cycling mechanism of the insufflator. Due to the small dimensions of intracorporeal cavities in the newborn, this mechanism may help to improve safety when neonatal video-assisted surgery is performed.

Laparoscopic upper-pole nephroureterectomy in infants.

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.

Laparoscopic upper-pole nephroureterectomy in infants

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.

The role of videolaparoscopy in the diagnostic and therapeutic approach of nonpalpable testis

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.

The role of videolaparoscopy in the diagnostic and therapeutic approach of nonpalpable testis.

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%) patients presented nonpalpable testes bilaterally, 7 (14%) only at the right side and 20 (39%) 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%) testes were not localized, but their vessels and deferent duct were atrophic. Two (3%) testes were intra-abdominal and atrophic, and 2 (3%) gonads, in the same patient, had a dysmorphic aspect. Nineteen (25%) testicular units were located close to the internal inguinal ring (peeping testes) and, in 22 (29%) units, the spermatic vessels and deferent duct penetrated the internal inguinal ring. Eight (10%) testes were located at a distance of less than 2 cm from the internal inguinal ring and 13 (17%) at a distance greater than 2 cm. The 2 intra-abdominal atrophic testes were removed. Inguinotomy was performed in a total of 41 (54%) cases, reaching a surgical success of 89%. Laparoscopic orchiopexy in one stage, without vascular ligation, was performed in 9 (12%) testes, which presented a distance of less than 2 cm from the internal inguinal ring, also with a surgical success index of 89%. Orchiopexy in 2 stages, with ligation of the spermatic vessels, was performed in 13 (17%) testicular units located at a distance greater than 2 cm from the internal inguinal ring, reaching 77% of good results. CONCLUSION: Videolaparoscopy is a safe and effective method for diagnosis and treatment of nonpalpable testis.