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RESUMOObjetivos: Avaliar o crescimento e a composição corporal de diabéti-cos 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 (± 0,97), enquanto no grupo controle foi de 0,28 (± 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 observouse 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. 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 (± 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. 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.

Objective: To evaluate clinical and laboratory profiles of patients with type 1 diabetes mellitus in three public hospitals in São Paulo, Brazil, since type 1 diabetes mellitus is a chronic illness that occurs mainly in the pediatric age group in the Brazilian population.Methods: Cross-sectional study with patients followed up in reference centers in São José do Rio Preto (FAMERP), Campinas (UNICAMP) and São Paulo (Conjunto Hospitalar do Mandaqui). Data about gender, age, diabetes duration, daily insulin dose, number of daily insulin injections, and glycosylated hemoglobin (HbA 1c ) were analyzed. Results:Two hundred and thirty-nine patients (131 females) were evaluated; mean age was 13.1±4.7 years and mean diabetes duration was 6.6±4.2 years. Daily insulin doses ranged from 0.1 to 1.78 units/kg/day (0.88±0.28), and 180 (74.7%) patients had two daily injections. HbA 1c ranged from 4.6 to 17.9% (10.0±2.3%). Conclusions:Although the hospitals included in this study are excellence centers for the follow-up of patients with diabetes in three municipalities in the state of São Paulo, one of the most developed states in Brazil, blood glucose control evaluated according to HbA 1c was not adequate. Findings confirm that, despite the efforts of all the professionals involved, great challenges still lie ahead.J Pediatr (Rio J). 2009;85(6):490-494 IntroduçãoO diabete melito tipo 1 (DMT1) é uma das doenças endócrinas mais sérias da infância e da adolescência. Sua incidência, que varia entre diferentes países e grupos ét-nicos, pode oscilar de 0,1 a 37,4/100.000 entre crianças de 0 a 14 anos 1 .O objetivo do tratamento do diabetes é alcançar equilíbrio metabólico e assegurar o bem-estar do paciente. As evidências mostram que um melhor controle da glicose sanguínea reduz o riso de complicações crônicas e está associado com uma melhor qualidade de vida 2 .

The prevalence found was 4.0%. This sample of celiac patients showed a predominance of gastrointestinal symptoms, although the celiac disease did not influence the diabetes control.

BackgroundPermanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In contrast, heterozygosis for GCK inactivating mutations is frequent and results in the maturity-onset diabetes of young (MODY), manifested by a mild fasting hyperglycemia usually detected later in life. Therefore, as an autosomal recessive disorder, GCK-PNDM should be considered in families with history of glucose intolerance or MODY in first relatives, especially when consanguinity is suspected.ResultsHere we describe two patients born from non-consanguineous parents within a family. They presented low birth weight with persistent hyperglycemia during the first month of life. Molecular analyses for KCNJ11,INS, ABCC8 did not show any mutation. GCK gene sequencing, however, revealed that both patients were compound heterozygous for two missense combined in a novel GCK-PNDM genotype. The p.Asn254His and p.Arg447Gly mutations had been inherited from their mothers and fathers, respectively, as their mothers are sisters and their fathers are brothers. Parents had been later diagnosed as having GCK-MODY.ConclusionsMutations’ in silico analysis was carried out to elucidate the role of the amino acid changes on the enzyme structure. Both p.Asn254His and p.Arg447Gly mutations appeared to be quite damaging. This is the first report of GCK-PNDM in a Brazilian family.

Objective: To evaluate growth and body composition of patients with the salt wasting form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and to compare them with healthy children.Methods: Twenty-one prepubertal patients (eight boys and 13 girls) between 2.1 and 10.2 years and 67 prepubertal healthy controls (36 boys and 31 girls) between 1.2 and 11.7 years were included. Weight, height, upper-arm circumference, skinfolds, body composition determined by bioimpedance, and bone age were measured. The following data were obtained from the medical records: parents' height, serum levels of 17-hydroxyprogesterone and Δ4-androstenedione, prescribed hydrocortisone doses, weight and length at birth, in the beginning of the treatment, and at 2 years. Results:Patients had lower weight and length z scores at the first appointment compared with the same data at birth, showing recovery after the beginning of the treatment without advanced bone age. Mean height z score was higher in controls (0.28±0.86) than in patients (-0.61±0.99, p < 0.001); this difference disappeared when the patients' height was adjusted to their bone age (0.33±1.68, p = 0.912). Patients had higher body mass index (p < 0.001), fat mass (p < 0.001), and fat mass index (p < 0.001) than controls. There was no difference in the skinfolds between the two groups (p = 0.157). Conclusions:Patients had growth recovery with mean height similar to the general population; however, they had higher body fat, which seems to be visceral, since there was no difference between the skinfolds of both groups. J Pediatr (Rio J). 2011;87(3):263-268:Congenital adrenal hyperplasia, adrenal, body composition, growth, child. ResumoObjetivo: Avaliar crescimento e composição corporal de portadores da forma clássica perdedora de sal da hiperplasia adrenal congênita por deficiência da 21-hidroxilase, comparando-os com crianças saudáveis. Métodos:Foram incluídos 21 pacientes (oito meninos e 13 meninas), entre 2,1 e 10,2 anos, e 67 controles pré-púberes (36 meninos e 31 meninas), entre 1,2 e 11,7 anos. Avaliou-se peso, estatura, perímetro braquial, dobras cutâneas, composição corporal por bioimpedância e idade óssea. Foram obtidas dos prontuários dos pacientes as seguintes informações: estatura dos pais, valores de 17-OH progesterona e Δ4-androstenediona, dose de hidrocortisona prescrita, dados de peso e estatura ao nascimento, no início do tratamento e aos 2 anos de idade. Resultados:Os pacientes apresentaram menor escore z de peso e de altura na primeira consulta em relação à situação de nascimento, com posterior recuperação após o início do tratamento, sem apresentar avanço da idade óssea. A média do escore z da altura dos controles (0,28±0,86) foi maior que a dos casos (-0,61±0,99, p < 0,001). Essa diferença desaparece quando se ajusta a altura dos pacientes para a idade óssea (0,33±1,68, p = 0,912). Os pacientes apresentaram maiores índices de massa corporal (p < 0,001), massa gorda (p < 0,001) e índice de massa gorda (p < 0,001) do que os contr...

RESUMOObjetivo: O diabetes mellitus tipo 1 (DM1) é a mais importante doença endócrino-metabólica crônica entre crianças e adolescentes, podendo ser causa de atraso do crescimento e da puberdade. Avaliamos a influência do DM1 no estirão de crescimento e na puberdade de indivíduos com doença iniciada antes ou no começo desta fase. Casuística e Métodos: Foram avaliados retrospectivamente os prontuários de 40 pacientes (25 meninas), que apresentavam altura final, com coleta dos dados para o cálculo do tempo total de doença, os escores de DP da altura e do peso a cada consulta, a altura-alvo parental, as velocidades de crescimento (VC) anuais, o pico do estirão de crescimento, a duração da puberdade, o ganho total de crescimento durante o estirão puberal e a hemoglobina glicada (HbG). Resultados: Em relação à adequação da altura final para a altura-alvo parental, 37 pacientes ficaram dentro da previsão e 3 ficaram abaixo do limite inferior. Não houve associação entre as variáveis analisadas com exceção da VC no pico do estirão, quando esta foi menor ou igual a 6cm/ano. A idade de início do DM1 e do pico do estirão puberal coincidiram com a faixa etária descrita na literatura; não foi observado atraso na idade de início da puberdade. No entanto, o ganho de altura durante a puberdade foi menor que o descrito na literatura, o mesmo ocorrendo em relação ao pico de VC puberal. De acordo com os valores da HbG, todos os pacientes avaliados apresentaram um controle crônico ruim do DM1. Conclusões: Neste grupo de DM1 com controle inadequado da doença, houve um prejuízo na altura final em relação à altura do início do DM1, provavelmente causado por uma baixa VC durante a puberdade, que, no entanto, não teve influência na altura final em relação ao alvo parental. Objective: Type 1 diabetes mellitus (DM1), the most important chronic endocrine-metabolic disease in children and adolescents, may lead to delayed growth and puberty. In this study we analyzed the influence of DM1 on growth spurt and puberty of patients whose onset of the disease was before or at the beginning of this phase. Patients and Methods: Data from 40 patients, 25 females, who had attained final height were retrospectively obtained, including duration of disease, patient's height and weight SDS at each consultation, parental target height, yearly growth velocities (GV), peak of growth spurt, duration of puberty, magnitude of growth spurt and glycated hemoglobin (HbA 1C ) levels. Results: 37 patients had an adequate final height to parental target height, and only 3 were below the lower limit. There was no significant association among the variables and the appropriate final height to the target height, except for GV on growth spurt, when it was lower than or equal to 6cm/year. The age of onset of DM1 and the age of peak of growth

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