Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy

ABSTRACT Objective: Herein, we compared ambulatory blood pressure (ABP) between young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency and a control group. Additionally, we analyzed correlations between the glucocorticoid dose and androgen levels and ABP parameters. Subjects and methods: This case-control study included 18 patients (6 males and 12 females) and 19 controls (8 males and 11 females) matched by age (18-31 years). ABP monitoring was used to estimate blood pressure (BP) over a 24-h period. Results: No difference was noted between patients and controls in terms of systolic BP (males, 115.5 ± 5.6 vs. 117.0 ± 9.3, P = 0.733; and females, 106.4 ± 7.9 vs. 108.4 ± 7.6, P = 0.556, respectively) and diastolic BP during 24 h (males, 62.8 ± 7.5 vs. 66.2 ± 5.6, P = 0.349; and females, 62.7 ± 4.9 vs. 62.3 ± 4.9, P = 0.818, respectively). Systolic and diastolic BP and pulse pressure during daytime and nocturnal periods were similar between patients and controls. Furthermore, no differences were detected in the percentage of load and impaired nocturnal dipping of systolic and diastolic BP between patients and controls during the 24-h period. Additionally, the glucocorticoid dose (varying between r = −0.24 to 0.13, P > 0.05) and androgens levels (varying between r = 0.01 to 0.14, P > 0.05) were not associated with ABP parameters. Conclusion: No signs of an elevated risk for hypertension were observed based on ABP monitoring in young adults with CAH attributed to 21OHase deficiency undergoing glucocorticoid replacement therapy.

Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

ABSTRACT BACKGROUND: Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. OBJECTIVE: Compare clinical and laboratory differences between men with non-obstructive azoospermia due to chromosomal anomalies versus undefined causes DESIGN AND SETTING: A cross-sectional retrospective study conducted at a public university hospital in Campinas (Brazil) METHODS: All men aged 20-40 years with non-obstructive azoospermia were included in the analysis. RESULTS: The 107 cases included 14 with Klinefelter syndrome (KS) (13%), 1 with mosaic KS, 4 with sex development disorders (2 testicular XX, 1 NR5A1 gene mutation, and 1 mild androgen insensitivity syndrome) (4%), 9 with other non-obstructive azoospermia etiologies (8%), and 79 with undefined causes. The 22 chromosomal anomaly cases (14 KS, 1 mosaic KS, 2 testicular XX, 4 sex chromosome anomalies, and 1 autosomal anomaly) were compared with the 79 undefined cause cases. The KS group had lower average testicular volume, shorter penile length, and lower total testosterone levels but greater height, arm span, serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, and gynecomastia frequency (absent in the undefined group and affecting more than half of the KS group). Patients with testicular XX DSD had LH, FSH, and penile length data intermediate between the KS and undefined cause groups, testicular volume similar to the KS group, and other data similar to the undefined group. CONCLUSION: Clinical and laboratory data differentiate men with non-obstructive azoospermia and chromosomal anomalies, particularly KS and testicular XX, from those with undefined causes or other chromosomal anomalies.

Estimation of body fat in children with intellectual disability: development and cross-validation of a simple anthropometric method

Abstract Objective Population-level monitoring of body composition requires accurate, biologically-relevant, yet feasible methods for estimating percent body fat (%BF). The aim of this study was to develop and cross-validate an equation for %BF from Body Mass Index (BMI), age, and sex among children with intellectual disability (ID). This study further aimed to examine the performance of an existing BMI-based equation (Deurenberg equation) for %BF in children with ID. Method Participants were 107 children (63 boys; aged 6-15 years) with ID randomly allocated to development (n= 81) and cross-validation (n= 26) samples. Dual-Energy X-Ray Absorptiometry provided the criterion %BF. Results The model including BMI, age, and sex (0 = male; 1 = female) had a significant goodness-of-fit in determining %BF (p< 0.001; R2= 0.69; SEE =5.68%). The equation was: %BF = - 15.416 + (1.394 × BMI) + (4.538 × age) - (0.262 × age2) + (5.489 × sex). The equation was cross-validated in the separate sample based on (i) strong correlation (r = 0.82; p< 0.001) and non-significant differences between actual and predicted %BF (28.6 ± 9.6% and 30.1 ± 7.1%, respectively); (ii) mean absolute error (MAE) = 4.4%; and (iii) reasonable %BF estimations in Bland-Altman plot (mean: 1.48%; 95% CI: 12.5, -9.6). The Deurenberg equation had a large %BF underestimation (mean: -7.1%; 95% CI: 5.3, -19.5), significant difference between actual and estimated %BF (28.6 ± 9.7% and 21.5 ± 7.0%, respectively; p< 0.001), and MAE = 8.1%. Conclusions The developed equation with BMI, sex, and age provides valid %BF estimates for facilitating population-level body fat screening among children with ID.

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study

Abstract BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.

The bone densitometry is normal in Turner syndrome prepubertal patients after height age correction / A densitometria óssea é normal em pacientes pré-púberes com síndrome de turner quando corrigida pela idade estatura

Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x −1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI.

Resumo Objetivos: avaliar a massa óssea de pacientes pré-púberes com Síndrome de Turner (ST) de acordo com a idade estatura (IE) e verificar a influência do cariótipo e da adiposidade. Métodos: estudo retrospectivo e analítico de pacientes pré-púberes com ST. As variáveis analisadas foram: cariótipo, idade na realização da densitometria óssea (DO); estatura, índice de massa corporal (IMC) e resultado da DO. Realizou-se a correção do resultado da DO utilizando a IE. O IMC e a DO foram calculados em Z score para idade cronológica (IC) e para IE. Resultados: foram selecionadas 37 pacientes pré-púberes e após critério de exclusão foram incluídas no estudo 13 casos entre 10 e 13 anos de idade. A DO para IE foi significativamente maior que para IC (0,39 ± 1,18 × −1,62 ± 1,32), sem influência do cariótipo (p=0,369) e do IMC (p=0,697). Conclusão: pacientes pré-púberes com ST apresentam DO normal quando corrigida para IE, sem influência do cariótipo e do IMC.

Neck circumference and excess weight: proposal of cutoff points for Brazilian adolescents

Abstract Objective: To indicate neck circumference (NC) cutoff points to identify excess weight at different stages of somatic maturation and evaluate the association between NC and body mass index (BMI). Methods: Cross-sectional study with 1715 adolescents. BMI was classified according to the World Health Organization (WHO) criteria. Somatic maturation was obtained through the peak growth velocity (PGV). To define the cutoff points, curves of the receiver operating characteristic (ROC) model were constructed. The agreement between the anthropometric evaluation instruments was analyzed. The association between the variables was verified. Results: Of the girls, 93 were in the pre-PGV stage, 266 in the PGV stage, and 481 in the post-PGV stage. Of the boys, 264 were in the pre-PGV stage, 334 in the PGV stage, and 277 in the post-PGV stage. For the pre-PGV group, the cutoff point was 28 cm for females and 29 cm for males; for the group during PGV, the cutoff points were 30 cm for females and 33 cm for males; in the post-PGV group the cutoff values were 32 cm in females and 35 cm in males. The prevalence of excess weight was higher in the pre-PGV stage in males and in the PGV stage in females. The correlation coefficients were higher in the pre-PGV and PGV stages. Conclusion: The cutoff points for NC found in this study showed good sensitivity and specificity to identify excess weight in Brazilian adolescents and can be used as a reference in epidemiological studies.

Prevalence of overweight in adolescents from a Southern Brazilian city according to different anthropometric indexes / Prevalência de excesso de peso em adolescentes de uma cidade do sul do brasil, de acordo com diferentes índices antropométricos

ABSTRACT Objective: To identify the prevalence of overweight in adolescents according to different classification criteria for obesity and somatic maturation stages. Methods: Cross-sectional study in 10 schools in a city from Southern Brazil, with 1715 adolescents. Height, weight, waist circumference, and neck circumference (NC) data were collected. Body Mass Index was classified according to World Health Organization (WHO) and Centers for Disease Control and Prevention criteria, and the waist-to-height ratio (WHtR) was classified according to Brazilian and European cut-off points. Somatic maturation was obtained through the Peak Height Velocity. The prevalence data were compared between sex and stages of somatic maturation; the concordance between different criteria was verified. Results: The prevalence of overweight was high in both sexes; WHO criteria showed that 34.5% of boys and 29.3% of girls were overweight. For the WHtR, the prevalence was 28.4% in boys and 23.7% in girls. NC classified 13.8% of boys and 15.8% of girls as being overweight. The prevalence of overweight was higher in adolescents before complete somatic maturation. Conclusions: The prevalence of overweight was high among adolescents. The boys presented higher frequency of overweight, except if NC was used to classify them. Adolescents before somatic maturation had a higher prevalence of overweight. NC showed a lower ability to track obese adolescents.

RESUMO Objetivo: Identificar a prevalência de excesso de peso em adolescentes de acordo com diferentes critérios de classificação de obesidade e estágios de maturação somática. Métodos: Estudo transversal em dez escolas de um município da região Sul do Brasil, com 1.715 adolescentes. Dados de estatura, peso, circunferência da cintura e circunferência do pescoço (CP) foram coletados. O índice de massa corpórea (IMC) foi classificado com os critérios da Organização Mundial da Saúde (OMS) e do Centers for Disease Control and Prevention, e a razão cintura-estatura (RCE) foi classificada de acordo com pontos de corte brasileiros e europeus. A maturação somática foi obtida por meio do pico de velocidade do crescimento (PVC). Os dados de prevalência foram comparados entre os sexos e os estágios maturacionais; verificou-se a concordância entre os diferentes critérios. Resultados: A prevalência do excesso de peso foi elevada em ambos os sexos. Com o critério da OMS, a prevalência foi de 34,5% nos meninos e 29,3% nas meninas. Para a RCE, a prevalência foi de 28,4% nos meninos e 23,7% nas meninas. A CP rastreou 13,8% de excesso de peso nos meninos e 15,8% nas meninas. A prevalência de excesso de peso foi mais elevada em adolescentes antes da maturação somática completa. Conclusões: A prevalência do excesso de peso foi elevada entre os adolescentes. Os meninos apresentaram maior percentual de excesso de peso, exceto na variável CP. Adolescentes antes da maturação somática apresentaram maior prevalência de sobrepeso. A CP tem menor capacidade de rastrear adolescentes obesos.

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.

Handball practice on bone health of female adolescents: evaluation of an eight-month competitive period / Prática de handebol e a densidade óssea de adolescentes do sexo feminino: avaliação de uma etapa competitiva de oito meses

A strategy to prevent bone loss diseases (i.e., osteoporosis) would be to enhance the increase of bone mass during childhood and adolescence. The purpose of this study was to compare bone mineral den-sity (BMD) and bone mineral content (BMC) between female adolescent handball players and peers who did not play (control group), and to assess the changes in BMD and BMC after eight-months of competitive period. Fifty-eight female adolescents (12­17 years old) were allocated into two groups: handball players (HG: n = 27) and control group (CG: n = 31). BMC and BMD were measured using dual-energy X-ray absorptiometry, and z-scores were calculated. Sexual maturity, menarche, peak height velocity (PHV ), sun exposure and calcium intake were assessed. At baseline, the handball players showed greater BMC and BMD than control group (p < 0.05). These differences between groups disappeared after adjusting for weight, BMI, menarche and lean soft tissue. After competitive period, significant time-effects for BMC and BMD of total TBLH and lumbar spine (p < 0.01) were observed in the handball players. HG increased BMC and BMD of total body and lumbar spine after eight-month. The Z-score analysis showed significant group effects with greater BMD of total body, lumbar spine, femur and hip than control group. The results showed that after eight-month compet-itive handball period, there was an increase in BMD of total body for handball players

Uma estratégia para prevenir doenças relacionadas a baixa densidade óssea, como a osteoporose, é aumentar o incremento da massa óssea durante a infância e a adolescência. O objetivo deste estudo foi comparar a densidade mineral óssea (DMO) e o conteúdo mineral ósseo (CMO) de adolescentes jogadoras de handebol com adolescentes da mesma idade que não jogavam (grupo controle) e avaliar a resposta da DMO e CMO ao longo de oito meses de temporada competitiva de handebol. Um grupo de 58 adolescentes do sexo feminino (12 a 17 anos de idade) foram alocadas em dois grupos: jogadoras de handebol (HG: n = 27) e grupo controle (GC: n = 31). O BMC e o BMD e respectivo escore-Z foram medidos pela absorciometria por raios X de dupla energia. Maturidade sexual, menarca, pico de velocidade de crescimento (PHV ), exposição ao sol e ingestão de cálcio foram avaliados. No início, as jogadoras de handebol apresentaram maior CMO e DMO do que o grupo controle (p < 0.05). Essas diferenças entre os grupos desapareceram após ajuste para peso, IMC, menarca e massa magra. O HG aumentou a CMO e a DMO do corpo total e da coluna lombar após oito meses. A análise do escore Z mostrou maior DMO do corpo total, coluna lombar, fêmur e quadril no HG do que no CG. Os resultados mostraram que, após um período competitivo de handebol de oito meses, houve um aumento na DMO do corpo total das jogadoras de handebol. Os resultados mostram que oito meses de temporada competitiva no handebol pode induzir um aumento no crescimento ósseo quando comparado a adolescentes do sexo feminino que tinham valores similares de BMD e BMC no início do estudo

Efetividade de programas de intervenção para obesidade com base em orientações para escolares adolescentes: revisão sistemática / Effectiveness of obesity intervention programs based on guidelines for adolescent students: systematic review

RESUMO Objetivo: Verificar a efetividade de intervenções educacionais baseadas na orientação sobre atividade física e nutrição em escolares. Fonte de dados: Foi realizada busca sistemática em quatro bancos e bases de dados eletrônicos, com artigos publicados entre outubro de 2007 e janeiro de 2017 que abordaram a realização de intervenções educacionais com ênfase em educação nutricional e atividade física ou exercício físico em escolares com idades entre 10 e 19 anos. Síntese dos dados: Foram selecionados 12 artigos para esta revisão. Desses estudos, quatro incluíram a intervenção educacional; quatro associaram intervenções educacionais à inclusão de alimentos saudáveis e atividade física; dois estudos relacionaram as orientações e a atividade física; e, por fim, dois ligaram as orientações com o consumo de alimentos saudáveis. Conclusões: As intervenções baseadas na orientação de atividade física e/ou nutrição foram eficientes, com resultados superiores nos estudos que associaram a prática de atividade física à orientação. Entretanto, observou-se a necessidade da realização de novos estudos que abordem as intervenções educacionais em escolares.

ABSTRACT Objective: To verify the effectiveness of educational interventions based on guidance on physical activity and nutrition in schoolchildren. Data sources: A systematic search was carried out in four electronic databases containing articles published between October 2007 and January 2017 and addressing educational interventions with emphasis on both nutritional education and physical activity in schoolchildren and adolescents aged 10 to 19 years. Data synthesis: Twelve articles were selected for this review, of which four included only educational interventions; four made and association between educational interventions, inclusion of healthy foods and physical activity; two made a relation between guidelines and physical activity; and finally, two associated guidelines with consumption of healthy foods. Conclusions: Interventions based on physical activity and/or nutrition counseling were efficient and showed superior results in studies that associated the practice of physical activity with counseling. However, the need for new studies on educational interventions among schoolchildren and adolescents was made evident.

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on the right testis. Even though gonadal tumors are rare in childhood, this case indicates that prophylactic removal of dysgenetic gonads should be performed as early as possible, especially when the female sex is assigned to a patient with a Y-chromosome sequence.

Assessment of bone mineral density in young female handball players / Avaliação da densidade mineral óssea em adolescentes jogadoras de handebol

Abstract Optimizing bone mass gain during childhood and adolescence may help prevent bone diseases in advanced ages. The aim of this study was to verify the bone mineral density (BMD) and bone mineral content (BMC) in female adolescent's handball players. This is a cross-sectional study where 68 female adolescents (12-17 years) were allocated into two groups: handball players (n = 29) (HG) and control group (n = 39) (CG). BMC and BMD from total body (TB), total body less head (TBLH), lumbar spine (L1-L4), femoral neck (FN), Ward's triangle (WT) and respectively Z-scores were measured using dual-energy X-ray absorptiometry (DXA). Sexual maturity, menarche, PHV, time of sun exposure, physical activity level and Calcium and vitamin D intake were assessed. The HG showed significantly higher BMC, BMD as well Z-scores values (p≤0.05) of total body, TBLH, femoral neck, hip and lumbar spine than the CG. When the values were adjusted for lean soft tissue (LST) the HG showed significantly higher BMC of femoral neck (p≤0.05), as well as BMD of TBLH and femoral neck (p≤0.05) and Z-score values all bone sites except hip, than the CG. We conclude that handball players have significantly higher bone mass values compared to group of girls of the same age.

Resumo Otimizar o ganho da massa óssea durante a infância e adolescência pode auxiliar na prevenção de doenças ósseas em idades mais avançadas. Objetivou-se verificar a densidade mineral óssea (DMO) e conteúdo mineral ósseo (CMO) em adolescentes do sexo feminino. Foi realizado um estudo transversal com 68 meninas adolescentes (12 a 17 anos), divididas em dois grupos: jogadoras de handebol (HG: n=29) e grupo controle (CG: n=39). DMO e CMO de corpo inteiro (TB), corpo total menos cabeça (TBLH), coluna lombar (L1-L4), colo do fêmur (FN) e triângulo de Ward's (WT) e respectivos escore Z foram medidos usando a absorciometria por dupla emissão de raios-x (DXA). Também foi avaliada a maturidade sexual, menarca, PVC e ingestão de cálcio e vitamina D. As jogadoras de handebol mostraram valores de CMO, DMO e respectivos escores Z do corpo inteiro, TBLH, fêmur, quadril e coluna lombar significativamente maiores quando comparados ao grupo controle. Quando ajustados para a massa isenta de gordura o grupo HG apresentou valores maiores para o CMO do fêmur e DMO do fêmur e TBLH; e nos valores de escore Z de todos os sítios ósseos, exceto o quadril, quando comparadas ao CG. Concluímos que as jogadoras de handebol têm valores de massa óssea significativamente maiores comparadas ao grupo de meninas da mesma idade.

Massa óssea por ultrassonografia quantitativa de falanges em jovens praticantes de karatê / Bone mass by quantitative ultrasound of finger phalanges in young karate practitioners

RESUMO Objetivo: Avaliar a massa óssea pela ultrassonografia quantitativa de falanges em jovens praticantes de karatê em relação a um grupo controle. Métodos: Amostra constituída por 162 praticantes de karatê (52 meninas) e 326 controles escolares (110 meninas) saudáveis, de 6 a 16 anos de idade, do oeste do Paraná. Foram avaliados peso, estatura, índice de massa corporal (IMC), Amplitude Dependent Speed of Sound (AD-SoS) e Bone Time Transmission (BTT), e os valores de IMC, AD-SoS e BTT transformados em escore Z. Aplicaram-se testes de Mann-Whitney, qui-quadrado ou Exato de Fisher e regressão linear múltipla, sendo significante p≤0,05. Resultados: Para ambos os sexos, os praticantes de karatê apresentaram valores superiores do escore Z do BTT comparados aos controles. Quanto à AD-SoS, as meninas do grupo de controle apresentaram valor absoluto e de escore Z superiores aos apresentados pelas praticantes de karatê do mesmo sexo. Ao avaliar a frequência relativa e absoluta de acordo com o escore Z do BTT em ambos os grupos, os meninos praticantes de karatê apresentaram maior frequência de massa óssea adequada. Nas meninas praticantes de karatê, a idade apresentou poder de explicação de 42% na variação da AD-SoS e o peso de 45% na variação do BTT. Nos meninos praticantes de karatê, a idade apresentou poder de explicação de 26% na variação da AD-SoS e a estatura 36% na variação do BTT. Conclusões: Nesse grupo de crianças e adolescentes, independentemente do sexo, os praticantes de karatê apresentaram maior massa óssea em relação ao grupo controle, sendo o BTT mais sensível para essa avaliação.

ABSTRACT Objective: To evaluate bone mass by quantitative ultrasound of the phalanges in young karate practitioners compared to a control group. Methods: Sample composed of 162 karate practitioners (52 females) and 326 healthy controls (110 females) aged 6 to 16 years old, in Western Paraná (Southern Brazil). Weight, height, BMI, amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT) were evaluated. BMI, AD-SoS and BTT values were converted to Z scores. Mann-Whitney, chi-square or Fisher Exact tests and multiple linear regression were applied, with significance level set at p≤0.05. Results: Both genders showed higher values of BTT as Z scores when compared to control group. Females from the control group had higher AD-SoS values (m/s and Z score) compared to female karate practitioners. When relative and absolute frequencies were assessed according to BTT Z score in both groups, male karate practitioners' bone mass was shown to be adequate more frequently. In female practitioners, age and weight were independent predictors of AD-SoS (R2=0.42) and BTT (R2=0.45), respectively. Among male karate practitioners, age was related to 26% of AD-SoS variances and height was responsible for 36% of BTT variances. Conclusions: Children and adolescents who practice karate were shown to have more bone mass in comparison to the control group, regardless of gender. BTT was more sensitive for this evaluation.

Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10 µIU/mL have congenital hypothyroidism / Triagem neonatal: 9% das crianças com TSH em papel filtro entre 5 e 10 µUI/mL têm hipotireoidismo congênito

Abstract Objectives: To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10 µIU/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010, with b-TSH levels between 5 and 10 µIU/mL, who were followed-up during the first two years of life when there was no serum TSH normalization. The diagnosis of congenital hypothyroidism was defined as serum TSH ≥10 µIU/mL and start of levothyroxine treatment up to 2 years of age. Results: Of the 380,741 live births, 3713 (1.04%) had filter paper TSH levels between 5 and 10 µIU/mL and, of these, 339 (9.13%) had congenital hypothyroidism. Of these, 76.11% of the cases were diagnosed in the first three months of life and 7.96% between 1 and 2 years of age. Conclusion: The study showed that 9.13% of the children with b-TSH levels between 5 and 10 µIU/mL developed hypothyroidism and that in approximately one-quarter of them, the diagnosis was confirmed only after the third month of life. Based on these findings, the authors suggest the use of a 5 µIU/mL cutoff for b-TSH levels and long-term follow-up of infants whose serum TSH has not normalized to rule out congenital hypothyroidism.

Resumo Objetivos: Determinar a prevalência de hipotireoidismo congênito em crianças com TSH em papel filtro (TSH-f) entre 5 e 10 µUI/mL na triagem neonatal. Métodos: Estudo retrospectivo que incluiu crianças triadas de 2003 a 2010, com TSH-f entre 5 e 10 µUI/mL, acompanhadas nos dois primeiros anos de vida quando não houve normalização do TSH sérico. O diagnóstico de hipotireoidismo congênito foi definido como TSH sérico igual ou superior a 10 µUI/mL e início de tratamento com levotiroxina até os dois anos. Resultados: Dos 380.741 nascidos vivos triados, 3.713 (1,04%) apresentaram TSH-f entre 5 e 10 µUI/mL e, desses, 339 (9,13%) tinham hipotireoidismo congênito. Desses, 76,11% dos casos foram diagnosticados nos primeiros três meses de vida e 7,96% entre um e dois anos. Conclusão: O estudo mostra que 9,13% das crianças com TSH-f entre 5 e 10 µUI/mL desenvolveram hipotireoidismo e que em cerca de um quarto delas o diagnóstico só se confirmou após o terceiro mês de vida. Com base nesses achados, sugere-se, para descartar o hipotireoidismo congênito, o uso do ponto de corte de TSH-f de 5 µUI/mL e o acompanhamento em longo prazo dos lactentes cujo TSH sérico não tenha se normalizado.

Prevalence and concordance in the prediction of excess body weight by two anthropometric criteria in adolescents of western Brazilian Amazon / Prevalência e concordância na predição de excesso de peso corporal por dois critérios antropométricos em adolescentes da Amazônia ocidental brasileira

Abstract The aim of this study was to identify the prevalence and concordance of excess weight (BMI) and body fat (fat %) in adolescents of both sexes from cities of Rio Branco-AC and Porto Velho-RO. This study evaluated 4,310 adolescents, 2,167 from Rio Branco and 2,143 from Porto Velho. No difference (p=0.46) for excess weight between adolescents from Rio Branco (34.8%) and Porto Velho (33.8%) was observed. Fat percentage was significantly higher (p<0.01) in adolescents from Porto Velho (59.8%) compared to those from Rio Branco (44.3%). In intra-pubertal and pubertal stages, moderate concordance was identified (p<0.01) and in pre-pubertal stage, substantial concordance was observed (p<0.01). Thus, the findings of this study point out the adequacy of screening and diagnosis of obesity and overweight, which will enable earlier approach and treatment of adolescents.

Resumo O objetivo deste estudo foi verificar a prevalência e a concordância de excesso de peso (IMC) e de gordura corporal (% gordura) em adolescentes de ambos os sexos das cidades de Rio Branco-AC e Porto Velho-RO. Participaram do estudo 4.310 adolescentes, sendo 2.167 de Rio Branco e 2.143 de Porto Velho. Não houve diferença (p=0,46) entre o excesso de peso nos adolescentes de Rio Branco (34.8%) e de Porto Velho (33.8%). O % gordura foi significativamente maior (p=<0,01) nos adolescentes de Porto Velho (59,8%) em relação aos de Rio Branco (44,3%). Nos estágios intra-púbere e púbere foram identificadas moderadas concordâncias (p=0,01) e no estádio pré-púbere foi observado substancial concordância (p=0,01). Assim, os achados do presente estudo apontam para a necessidade da adequação do rastreamento da obesidade e sobrepeso que possibilitará identificação mais precoce e tratamento dos adolescentes.

Body mass index reference charts for individuals with Down syndrome aged 2-18 years / Gráfico de referência do Índice de Massa Corporal para os indivíduos com síndrome de Down entre 2 e 18 anos de idade

Abstract: Objective: To develop Brazilian growth charts for body mass index (BMI-for-age) for individuals with Down syndrome (DS). The secondary objective was to compare the BMI-for-age with the Centers for Disease Control and Prevention standards (CDC). Methods: A retrospective and cross-sectional growth study of 706 youth with DS (56.7% males) was performed in 51 centers in São Paulo state, Brazil. Weight and height were used to calculate the BMI (kg/m2). The LMS method was applied to construct the growth charts. Z-scores were based on the CDC 2000 growth standards. Results: The BMI-for-age reference charts showed excellent goodness of fit statistics for boys and girls with DS aged 2-18 years. At 2 years of age, the mean BMI Z-scores of boys and girls with DS were lower compared to those of the CDC (Z-score = −0.2). In contrast, children with DS aged 3-18 years had higher mean Z-scores for BMI-for-age when compared to those of the CDC (Z-scores = +0.2 to +1.3). Conclusions: The BMI of Brazilian youth with DS differs from those references established by CDC. These are the first Brazilian BMI-for-age charts for individuals with DS and will hopefully guide clinicians and parents in the evaluation and management of the nutritional status in children and adolescents with DS in Brazil.

Resumo: Objetivo: Desenvolver curvas específicas de índice de massa corporal (IMC-para-idade) para população brasileira com síndrome de Down (SD). O objetivo secundário foi comparar os valores de IMC-para-idade com os valores normativos dos Centros de Controle e Prevenção de Doenças dos Estados Unidos (CDC). Métodos: Estudo do tipo retrospectivo e transversal. A amostra foi constituída de 706 jovens com SD (56,7%, meninos) recrutados em 51 instituições no Estado de São Paulo, Brasil. Peso e estatura foram obtidos e empregados para o cálculo de IMC (Kg/m2). O método LMS foi usado para a construção das curvas. Escores Z foram calculados com base na referência do CDC 2000. Resultados: As curvas de referência de IMC-para-idade para meninos e meninas com SD na faixa entre 2-18 anos apresentaram excelente ajuste estatístico. Aos 2 anos, o escore Z médio IMC de crianças com SD apresentou-se menor quando comparado com o CDC (escore Z = -0,2). Em contraste, os escores Z médios de IMC de jovens com SD foram superiores entre 3-18 anos (escores Z = +0,2 a +1,3). Conclusões: A população brasileira com SD apresentou diferentes padrões de IMC quando comparada com as referências do CDC. As curvas desenvolvidas neste estudo representam a primeira referência nacional de IMC-para-idade para jovens com SD. Espera-se, portanto, que essas curvas possam guiar pais e profissionais na avaliação do estado nutricional de crianças e adolescentes com SD no território brasileiro.

The effects of an after-school intervention program on physical activity level, sedentary time, and cardiovascular risk factors in adolescents

Abstract Aim: To ascertain the effects of an after-school intervention on physical activity levels and cardiovascular risk factors in adolescents from Campinas, Brazil. Methods: This was an intervention study with 71 adolescents that was carried out in two schools, randomly assigned to a control group (CG:n=45) or an intervention group (IG:n=26). We performed evaluations of body composition, sexual maturation, blood pressure, level of physical activity, sedentary time (ST), and eating habits, as well as biochemical variables by a portable analyzer. The IG participated in two weekly sessions of physical activities and controlled physical exercises for 14 weeks. The sessions lasted 60', and were divided into warm-up (5-10'), main part (40-50'), and recovery (5-10'). Results: 30.8% of the IG and 24.4% of the CG were classified as overweight/obese. Additionally, the IG showed significantly lower ST (total: p=0.037; daily: p=0.009) after the intervention, as well as in the post-period (total ST: p=0.043; daily ST: p=0.007). The IG showed a reduction in glycemia (p=0.025). Conclusion: The intervention program generated positive changes in glycemia levels and ST. These results suggest that interventions involving physical exercise should be promoted in the school environment, as physical activity is an important component of a healthy lifestyle.

Central precocious puberty: revisiting the diagnosis and therapeutic management

ABSTRACT Clinical and laboratory diagnosis and treatment of central precocious puberty (CPP) remain challenging due to lack of standardization. The aim of this revision was to address the diagnostic and therapeutic features of CPP in Brazil based on relevant international literature and availability of the existing therapies in the country. The diagnosis of CPP is based mainly on clinical and biochemical parameters, and a period of follow-up is desirable to define the “progressive” form of sexual precocity. This occurs due to the broad spectrum of pubertal development, including isolated premature thelarche, constitutional growth and puberty acceleration, progressive and nonprogressive CPP, and early puberty. Measurement of basal and stimulated LH levels remains challenging, considering that the levels are not always in the pubertal range at baseline, short-acting GnRH is not readily available in Brazil, and the cutoff values differ according to the laboratory assay. When CPP is suspected but basal LH values are at prepubertal range, a stimulation test with short-acting or long-acting monthly GnRH is a diagnostic option. In Brazil, the treatment of choice for progressive CPP and early puberty is a long-acting GnRH analog (GnRHa) administered once a month or every 3 months. In Brazil, formulations of GnRHa (leuprorelin and triptorelin) are available and commonly administered, including 1-month depot leuprorelin 3.75 mg and 7.5 mg, 1-month depot triptorelin 3.75 mg, and 3-month depot leuprorelin 11.25 mg. Monthly or 3-month depot GnRHa are effective and safe to treat CPP. Arch Endocrinol Metab. 2016;60(2):163-72.