Prevalence of testicular adrenal rest tumors and factors associated to its development in patients with congenial adrenal hyperplasia

Orientadores: Sofia Helena Valente de Lemos Marini, André Moreno MorcilloTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências MédicasResumo: Os tumores testiculares de restos adrenais (TTRA) podem ser causa importante de infertilidade em homens com Hiperplasia Adrenal Congênita (HAC). Conhecer sua prevalência e entender os fatores associados ao seu desenvolvimento pode ajudar a melhorar as taxas de fertilidade nestes pacientes. Os objetivos deste estudo foram determinar a prevalência de TTRA em pacientes com a forma clássica da HAC por deficiência da 21-hidroxilase (HAC-21) e avaliar possíveis fatores associados ao seu desenvolvimento. Trata-se de um estudo de corte transversal descritivo e analítico que avaliou pacientes do sexo masculino com a forma clássica da HAC-21. Foram analisados 38 pacientes com idades entre três e 27 anos, sendo 11 pré-púberes. Os pacientes foram submetidos a ultrassonografia testicular e dosagem sérica de inibina B; obteve-se dados dos prontuários referentes a todas as avaliações feitas nos seis anos anteriores à ultrassonografia: antropometria, doses prescritas de glicocorticoide e dosagens de 17-hidroxiprogesterona, androstenediona, ACTH, renina e LH. Este período de seis anos foi dividido em três períodos de dois anos considerando-se como ponto zero a consulta mais próxima da data de realização da ultrassonografia. Para os dados antropométricos foram consideradas as consultas mais próximas do final de cada período. Nove pacientes apresentaram TTRA sendo quatro pré-púberes, tendo o mais jovem cinco anos de idade. A média do maior diâmetro dos tumores foi 0,9 cm, tendo o maior deles 2,9 cm. A média de idade na ultrassonografia foi 15,2 ± 6,7 anos. Não houve diferença entre pacientes com e sem TTRA para os parâmetros clínicos (estatura, IMC e ajuste ao alvo parental) em nenhum dos três momentos analisados. Não houve diferença na concentração de inibina de pacientes com e sem TTRA. Também não se encontrou diferença entre pacientes com e sem TTRA para as médias de 17-hidroxiprogesterona, androstenediona, ACTH, renina e LH em nenhum dos três períodos analisados. Entretanto, quando dividimos os pacientes em dois grupos, um com mediana dentro dos valores considerados normais e outro com mediana aumentada, metade dos pacientes com androstenediona aumentada nos dois anos prévios à avaliação, ou seja, no período mais próximo à ultrassonografia, apresentava TTRA (p=0,018 OR=8,00 [IC 95% 1,42 ¿ 44,92]), enquanto no grupo de androstenediona normal apenas 16,7% dos pacientes tinham lesão. Concluindo, a prevalência de TTRA foi 23,7%. Este estudo mostrou que os TTRA já ocorrem em pacientes pré-púberes e que o mau controle da doença tendo como referência a androstenediona é um dos possíveis fatores associados ao seu desenvolvimento. Sugere-se então, que sua pesquisa deve iniciar-se nos primeiros anos da infância, especialmente em pacientes mal controladosAbstract: Testicular adrenal rest tumors (TART) can be one cause of infertility in men with Congenital Adrenal Hyperplasia (CAH). Knowing its prevalence and understanding the factors associated with its development can help to improve fertility rates in these patients. The aim of this study was to determine TART prevalence in male patients with CAH due to 21-hydroxylase deficiency (CAH-21) and to evaluate possible factors associated with its development. This is a descriptive and analytical cross-section study which evaluated male patients with the classic CAH-21 form. Thirty eight male patients aged from three to 27 years, 11 of them prepubertal, were evaluated. The patients were analyzed through testicular ultrasonography and serum inhibin B. Data from anthropometry, prescribed glucocorticoids doses, 17-hydroxyprogesterone, androstenedione, ACTH, renin and LH serum levels were obtained from medical records. All patients¿ consultations during the six years preceding the testicular ultrasonography were selected. This six-year period was divided in three two-year intervals, considering as time zero the nearest ultrasonography consultation. For the anthropometric data were considered the medical appointments closest to the end of each period. TART were found in nine patients, four of them prepubertal, the youngest was five years old. The mean tumors diameter was 0.9 cm and the largest was 2.9 cm. The mean age at the ultrasonography was 15.2 ± 6.7 years. No difference was found between patients with and without TART related to clinical parameters (height and BMI z score and parental target adjust) in any of the three analyzed moments. There was no difference in serum inhibin B levels of patients with and without TART. No difference was also found between patients with and without TART for 17-hydroxyprogesterone, androstenedione, ACTH, renin and LH mean serum levels in any of the three periods of time. However, when the patients were divided into two groups, one with median within the normal range and other with increased median, half of patients with increased androstenedione median two years prior to the evaluation had TART (p=0.018 OR=8.00 [95% CI: 1.42 to 44.92]). In the normal androstenedione group only 16.7% of patients had TART. Concluding, we found a TART prevalence of 23.7% in this group of patients. This study showed that TART can occur in prepubertal patients and that the control of the disease is one important factor associated with its development. Therefore, we suggest investigating TART development early in childhood, especially in poorly controlled 21-OHD male patientsDoutoradoPediatriaDoutora em Ciência

Growth and body composition in children with type 1 diabetes mellitus

OBJECTIVE: To evaluate the growth and body composition of pre-pubertal diabetic children, and to check for influence of the age of diabetes onset and length, sex, insulin requirement and glycosylated hemoglobin. PATIENTS AND METHODS: 59 diabetic children (39 M; 29 F), age 1.2-11.5 years, and 67 controls (36 M; 31 F), age 1.2-11.7 years were included. Weight, height, body mass index (BMI), arm circumference, skin folds, fat mass and muscle areas were evaluated and transformed into standard deviation scores (SDS). RESULTS: Among the diabetic children the mean height SDS was -0.13 (&plusmn; 0.97) while in the control group it was 0.28 (&plusmn; 0.86) (p= 0.013). The difference between the first and the current height SDS showed that the height SDS decreased significantly (p< 0.001) and multiple regression analysis indicated correlation with the duration of the disease. The mean arm fat SDS also revealed difference (p< 0.001). The means for weight, BMI, addition of 3 skinfolds and muscle mass did not demonstrate difference between the groups. CONCLUSIONS: The diabetic children showed reduction of height SDS during the period studied and they were significantly shorter than the controls, even though their statures were within the population standards. The arm fat area also showed to be increased in relation with the controls.OBJETIVOS: Avaliar o crescimento e a composição corporal de diabéticos tipo 1, pré-púberes, em relação à idade de início e tempo da doença, sexo, dose de insulina e hemoglobina glicada média. PACIENTES E MÉTODOS: Foram incluídas no estudo 59 crianças diabéticas (30 M; 29 F), entre 1,2 e 11,5 anos, e 67 controles (36 M; 31 F), entre 1,2 e 11,7 anos. Peso, altura, IMC, perímetro braquial, pregas cutâneas e áreas de massa gorda e muscular braquial foram avaliados e transformados em escore z. RESULTADOS: Verificou-se que entre os diabéticos a média de escore z de altura foi -0,13 (&plusmn; 0,97), enquanto no grupo controle foi de 0,28 (&plusmn; 0,86) (p= 0,013). A diferença entre os escores de altura inicial e atual mostrou perda estatural (p< 0,001) e a análise multivariada demonstrou associação com tempo de doença. Também observou-se diferença na área de gordura braquial (p< 0,001). As médias de escore z de peso, IMC, soma de 3 dobras e área muscular braquial não diferiram entre os grupos. CONCLUSÕES: As crianças diabéticas apresentaram perda de estatura durante o período de acompanhamento e eram significativamente mais baixas que os controles, embora suas alturas ainda estivessem dentro dos padrões de normalidade. Também mostraram área de gordura braquial aumentada em relação aos controles.49049

[growth And Body Composition In Children With Type 1 Diabetes Mellitus].

To evaluate the growth and body composition of pre-pubertal diabetic children, and to check for influence of the age of diabetes onset and length, sex, insulin requirement and glycosylated hemoglobin. 59 diabetic children (39 M; 29 F), age 1.2-11.5 years, and 67 controls (36 M; 31 F), age 1.2-11.7 years were included. Weight, height, body mass index (BMI), arm circumference, skin folds, fat mass and muscle areas were evaluated and transformed into standard deviation scores (SDS). Among the diabetic children the mean height SDS was -0.13 (+/- 0.97) while in the control group it was 0.28 (+/- 0.86) (p= 0.013). The difference between the first and the current height SDS showed that the height SDS decreased significantly (p< 0.001) and multiple regression analysis indicated correlation with the duration of the disease. The mean arm fat SDS also revealed difference (p< 0.001). The means for weight, BMI, addition of 3 skinfolds and muscle mass did not demonstrate difference between the groups. The diabetic children showed reduction of height SDS during the period studied and they were significantly shorter than the controls, even though their statures were within the population standards. The arm fat area also showed an increase in relation with the controls.50490-

Habilidade motora fina e linguagem expressiva em crianças com hipotireoidismo congênito

RESUMO Objetivo Triar o desenvolvimento global de crianças com e sem hipotireoidismo congênito e investigar a associação entre as habilidades motora fina e de linguagem expressiva nesses dois grupos. Método Trata-se de um estudo prospectivo de uma coorte de crianças com hipotireoidismo congênito, diagnosticadas e acompanhadas em um serviço de referência em triagem neonatal de um hospital público e de crianças sem essa disfunção. A triagem foi realizada por meio das Escalas Bayley de Desenvolvimento Infantil III, nos domínios cognitivo, motor grosso e fino e de linguagem receptiva e expressiva. O desempenho das crianças foi expresso em competente e não competente. Resultados Foram triadas 117 crianças com Hipotireoidismo Congênito diagnosticado pelo teste do pezinho, com o nível de Hormônio Tireotrófico (TSH) normalizado no momento da avaliação e 51 sem essa doença, ambos os grupos com idade média de 21 meses. As crianças com Hipotireoidismo Congênito apresentaram um desempenho pior nas habilidades motora grossa e fina quando realizada a comparação entre os dois grupos e não houve diferença nas áreas cognitiva e de linguagem receptiva e expressiva. A associação entre motricidade fina e linguagem persiste no grupo com a doença, demonstrando que há uma inter-relação dessas habilidades, sendo que o grupo com hipotireoidismo apresenta duas vezes mais chances de alterações na linguagem expressiva quando a motricidade fina já estiver comprometida. Conclusão No processo de desenvolvimento, ambas as habilidades, linguagem expressiva e motricidade fina, podem estar associadas e/ou dependentes uma da outra nesta amostra avaliada

Prevalence of congenital hypothyroidism and thyroid function follow-up of children with Tsh cutoff between 5 and 10 mIU/l in neonatal screening

sem informação862149949955th Annual Meeting of the European Society for Paediatric Endocrinolog

Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency

Objective: the use of anthropometric measurements to estimate the percentage of body fat (%BF) is easy and inexpensive. However, the accuracy of these methods in patients with 21-hydroxylase deficiency (21OHD) has not been explored. the objective of this study was to evaluate the accuracy of skinfold-based models, body mass index (BMI), and waist circumference (WC) in estimations of %BF using dual-energy X-ray absorptiometry (DXA) as the reference method in individuals with 21OHD.Methods: Fifty-four 21OHD patients (32 women and 22 men), aged 7 to 20 y, were recruited for the study. DXA was used to determine %BF; four predictive skinfold equations, BMI, and WC were assessed for accuracy in determining %BF.Results: All predictive skinfold equations were highly associated (R, range: 0.82-0.89) with DXA %BF values. in women, BMI and WC showed moderate correlations (R = 0.69 for both BMI and WC) with DXA values. in contrast, among men there was a low explanatory power for BMI (13%) and WC (4%) and high errors (BMI, 6.9%; WC, 7.4%). All predictive equations significantly underestimated %BF (range of differences, -4.1 to -8.9) compared with DXA (women, 31.3 +/- 6.1; men, 24.4 +/- 7.3), and large limits of agreement were observed (range, -15.3 to 1.7 and -15.5 to 4.2 for women and men, respectively).Conclusion: in children and adolescents with 21OHD, %BF as estimated by skinfold measurements was associated more strongly with DXA-assessed %BF than both BMI and WC. However, still, the skinfold-based assessment underestimated DXA %BF and showed moderate agreement (C) 2012 Elsevier Inc. All rights reserved

Prospective observational cohort study on grading the severity of postoperative complications in global surgery research

Background The Clavien–Dindo classification is perhaps the most widely used approach for reporting postoperative complications in clinical trials. This system classifies complication severity by the treatment provided. However, it is unclear whether the Clavien–Dindo system can be used internationally in studies across differing healthcare systems in high- (HICs) and low- and middle-income countries (LMICs). Methods This was a secondary analysis of the International Surgical Outcomes Study (ISOS), a prospective observational cohort study of elective surgery in adults. Data collection occurred over a 7-day period. Severity of complications was graded using Clavien–Dindo and the simpler ISOS grading (mild, moderate or severe, based on guided investigator judgement). Severity grading was compared using the intraclass correlation coefficient (ICC). Data are presented as frequencies and ICC values (with 95 per cent c.i.). The analysis was stratified by income status of the country, comparing HICs with LMICs. Results A total of 44 814 patients were recruited from 474 hospitals in 27 countries (19 HICs and 8 LMICs). Some 7508 patients (16·8 per cent) experienced at least one postoperative complication, equivalent to 11 664 complications in total. Using the ISOS classification, 5504 of 11 664 complications (47·2 per cent) were graded as mild, 4244 (36·4 per cent) as moderate and 1916 (16·4 per cent) as severe. Using Clavien–Dindo, 6781 of 11 664 complications (58·1 per cent) were graded as I or II, 1740 (14·9 per cent) as III, 2408 (20·6 per cent) as IV and 735 (6·3 per cent) as V. Agreement between classification systems was poor overall (ICC 0·41, 95 per cent c.i. 0·20 to 0·55), and in LMICs (ICC 0·23, 0·05 to 0·38) and HICs (ICC 0·46, 0·25 to 0·59). Conclusion Caution is recommended when using a treatment approach to grade complications in global surgery studies, as this may introduce bias unintentionally