ABSTRACT Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients with a clinical presentation suggestive of WS following up at a single Brazilian diabetes service and analyze their clinical and molecular characteristics. Subjects and methods: The study included all patients with a clinical presentation of WS following up between 1991 and 2022 with early-onset diabetes mellitus and other WS signs and symptoms. A retrospective analysis was conducted, including patients’ age, sex, consanguinity, age at symptom onset, diagnosis of diabetes mellitus, optic atrophy, diabetes insipidus, neurological and psychiatric disorders, hearing loss, urinary disorders, hypogonadism, and WFS1 molecular analysis. Results: Eight patients were identified, all of whom were diagnosed with diabetes mellitus at an average age of 3.7 years. Optic atrophy, diabetes insipidus, and hearing loss were common, while psychiatric and neurological alterations were observed in some cases. Genetic analysis revealed pathogenic variants in homozygosity or compound heterozygosity. The most frequent variant was p. Val412Serfs29, present in five of the seven families. Conclusions: This study represents the second-largest Brazilian sample of WS and is the first cohort from a single center in Southeast Brazil. The patients had an early, severe, and complete clinical presentation. The genetic variants identified were consistent with previous literature descriptions. The variant p. Val412Serfs29 was particularly common in this cohort, highlighting its relevance in the region. Objective WS, , (WS) characteristics methods 199 202 earlyonset early onset symptoms conducted sex consanguinity atrophy insipidus disorders hypogonadism WFS Results 37 3 7 3. years cases heterozygosity p ValSerfs Val Serfs families Conclusions secondlargest second largest Brazil severe descriptions Val412Serfs2 region (WS 19 20 Val412Serfs 1 2

OBJETIVO: Avaliar o crescimento e a composição corporal de crianças e adolescentes com diabetes tipo 1 (DM1). SUJEITOS E MÉTODOS: Estudo de uma coorte de 44 pacientes com DM1 acompanhados em média por quatro anos, comparados a um grupo controle. Avaliaram-se peso, estatura, índice de massa corporal (IMC), porcentagem de massa gorda (%MG), índice de massa gorda, cintura e razão cintura/estatura. RESULTADOS: No sexo feminino, na primeira avaliação a %MG das pacientes foi menor, enquanto na segunda avaliação a média da cintura das pacientes foi maior que a dos controles. No sexo masculino, a estatura dos pacientes foi menor na primeira avaliação, enquanto o IMC foi maior na segunda. Não foram observadas diferenças entre as variações dos escores z de estatura, peso e IMC e da %MG ou na distribuição desses escores entre as duas avaliações em ambos os grupos. A análise multivariada mostrou diferença no IMC e na razão cintura/estatura dos dois sexos e também na cintura das meninas. CONCLUSÃO: Os pacientes apresentaram crescimento adequado, porém diferiram na composição corporal durante o período do estudo.

OBJECTIVE: To evaluate the growth and body composition of children and adolescents with type 1 diabetes mellitus (T1DM). SUBJECTS AND METHODS: A cohort of 44 patients with T1DM were followed up for approximately four years and compared with a control group. Weight, height, body mass index (BMI), body fat percentage (BF%), fat mass index, waist circumference (WC) and waist-height ratio were determined. RESULTS: In females, in the first evaluation, BF% was lower in patients than in controls, while in the second evaluation, mean WC was higher in patients than in controls. In males, height of the patients was lower in the first evaluation, while body mass index (BMI) was higher in the second one. We did not find any differences among the changes in height, weight and BMI z-scores and BF% or in the distribution of those z-scores between the two evaluations, in both groups. Multiple regression analysis found differences in BMI and waist-height ratio in both sexes and also in WC in females. CONCLUSION: The patients had adequate growth but showed discrepancy in their body composition during the study.

OBJETIVO: Realizar a avaliação clínica e laboratorial dos pacientes com diabetes melito tipo 1 em três hospitais públicos em São Paulo (SP), uma vez que o diabetes melito tipo 1 é uma doença crônica que ocorre principalmente em crianças e adolescentes. MÉTODOS: Estudo transversal com pacientes em acompanhamento em centros de referência em São José do Rio Preto (FAMERP), Campinas (UNICAMP) e São Paulo (Conjunto Hospitalar do Mandaqui). Dados como gênero, idade, duração do diabetes, dose diária de insulina, número de aplicações diárias de insulina e hemoglobina glicosilada (HbA1c) foram analisados. RESULTADOS: Foram avaliados 239 pacientes (131 do sexo feminino); a idade média foi de 13,1±4,7 anos e o tempo médio de duração do diabetes foi de 6,6±4,2 anos. As doses diárias de insulina variaram de 0,1 a 1,78 unidades/kg/dia (0,88±0,28), e 180 (74,7%) pacientes faziam somente duas aplicações por dia. A HbA1c variou de 4,6 a 17,9% (10,0±2,3%). CONCLUSÕES: Embora os hospitais incluídos neste estudo sejam centros de referência para o seguimento de pacientes com diabetes melito em três cidades do estado de São Paulo, um dos estados mais desenvolvidos do Brasil, o controle da glicemia avaliado através da HbA1c não foi adequado. Isso confirma o fato de que, embora haja esforço de todos os profissionais envolvidos, grandes desafios ainda deverão ser vencidos.

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 (HbA1c) 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. HbA1c 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 HbA1c was not adequate. Findings confirm that, despite the efforts of all the professionals involved, great challenges still lie ahead.