The Association between Dietary Pattern, Obesity, and Glycemic Control of Children and Adolescents with Type 1 Diabetes Mellitus.

AIMS: To evaluate the association between dietary patterns, obesity, and glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). METHODS: A cross-sectional study was carried out in 2015 at a diabetes reference center in Rio de Janeiro. Sociodemographic data and those related to outpatient follow-ups were obtained from the medical records. The assessment of food consumption was performed using a 24 h food recall. Obesity was defined as body mass index-for-age (BMI-for-age) ≥ +1 z-score. Glycemic control was assessed using glycated hemoglobin (HbA1c). Dietary patterns were generated by factorial analysis, and each individual's adherence to these dietary patterns was determined by the factor loadings and then classified into terciles. RESULTS: The study population included 120 children and adolescents, among whom 5 dietary patterns were identified. The prevalence of obesity was 31.7% (n = 38), and 64.2% (n = 77) of the participants had inadequate glycemic control. We observed that individuals with higher adherence to dietary pattern five, characterized by a greater consumption of ultra-processed foods, had higher odds of having higher HbA1c levels (OR = 3.49; 95% CI = 1.18-11.16). CONCLUSIONS: Higher consumption of ultra-processed foods can be detrimental to glycemic control in children and adolescents. Thus, food intake monitoring is of paramount importance as part of the multidisciplinary care of patients with T1DM.

Evaluation of the dietary inflammatory index in children and adolescents with type 1 diabetes mellitus and its relationship with nutritional status and metabolic control.

OBJECTIVES: The aim of this study was to evaluate the association of the dietary inflammatory index (DII) with the nutritional status and metabolic control of children and adolescents with type 1 diabetes mellitus. METHODS: This was a cross-sectional study that examined data of children and adolescents ages 7 to 16 y diagnosed with type 1 diabetes mellitus. Dietary intake was assessed using a 24-h dietary recall, from which the DII was calculated. The outcomes were body mass index, lipid profiles (low-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol), and glycated hemoglobin. The DII was evaluated in tertiles and in a continuous way. Multiple linear regression was adopted in the analysis, with P < 0.05 considered significant. RESULTS: Overall, 120 children and adolescents with a mean age of 11.7 (± 2.8) y were included, 53.3% (n = 64) of whom were girls. Excess weight was present in 31.7% participants (n = 38). The average DII was +0.25, ranging from -1.11 to +2.67. Higher values of selenium (P = 0.011), zinc (P = 0.001), fiber (P < 0.001), and other micronutrients were observed in the first tertile of the DII (diet with more antiinflammatory potential). The DII appeared as a predictor of body mass index (P = 0.002; ß = 0.23; 95% confidence interval [CI], 0.39-1.75) and non-high-density lipoprotein cholesterol (P = 0.034; ß = 0.19; 95% CI, -13.5 to 0.55). There was a tendency for DII to be associated with glycemic control (P = 0.09; ß = 0.19; 95% CI, -0.04 to 0.51). CONCLUSIONS: The inflammatory potential of the diet was associated with increased body mass index and aspects related to metabolic control in children and adolescents with type 1 diabetes mellitus.

Determinants of ultra-processed food consumption in Brazilian children and adolescents with type 1 diabetes mellitus: a cross-sectional study.

OBJECTIVES: To analyze the determinants of UPP consumption among children and adolescents with type 1 diabetes mellitus. METHODS: Cross-sectional study at a reference hospital for the treatment of diabetes in Rio de Janeiro, Brazil. The sociodemographic, anthropometric, dietary, and clinical factors associated with the percentage of total energy intake (TEI) consumed in the form of UPP were investigated. Food consumption was assessed by 24 h recall and the foods were classified according to the degree of processing as described in the NOVA classification, after which the TEI of each food group was calculated. Multiple linear regression was adopted in the analysis, and associations with p<0.05 were considered significant. RESULTS: The study included 120 children and adolescents with a mean age of 11.74 ± 2.88 years, 53.3% female. Body mass index z-score was 0.65 (± 0.89) and 31.7% (n=38) were overweight. The average total energy consumption was 1,756.38 kcal (± 518.38). The mean percentage of TEI from UPP was 24.2% ± 17.9, meaning that 425.59 kcal (± 380.15) of all calories ingested came from such foods. The independent variables associated with the percentage of ultra-processed foods (UPP) in TEI were: per capita household income up to one the minimum wage (ß: -22.03; CI 95% -35.24 to -8.82); and parents/guardians schooling of the up to nine years in formal education (ß: 19.86; CI 95% 8.27-31.45). CONCLUSIONS: Lower household income and fewer years in formal education seem to determine a preference for UPP over fresh and minimally processed foods.

Predictor factors of glycemic control in children and adolescents with type 1 diabetes mellitus treated at a referral service in Rio de Janeiro, Brazil.

AIM: To evaluate the predictive factors of glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). METHODS: Cross-sectional study at a referral service in Rio de Janeiro, Brazil. Sociodemographic, anthropometric, clinical, and dietary factors were evaluated. Food consumption was evaluated by 24 h dietary recall and the NOVA system was adopted for classifying the foods according to the extent and purpose of industrial processing. The predictive factors were evaluated by multivariate linear regression, adopting p < 0.05. RESULTS: One hundred and twenty children and adolescents participated, with a mean age of 11.74 years (±2.88) and HbA1c of 8.13% (±1.26). The mean diabetes duration was 6.68 years (±3.33) and the insulin used was 1.05 units per kilogram of ideal weight (IU/kg of ideal weight; ±0.46) About 80% (n = 96) used carbohydrate counting and it was verified that 24.27% (±17.89) of the participants' total calories came from ultraprocessed foods. For each year of diagnosis with T1DM and for each IU/kg of weight used, HbA1c increased by 0.087% (ß = 0.087, p = 0.007) and 0.651%, respectively (ß = 0.651; p = <0.001). Use of carbohydrate counting was associated with a 1.058% reduction in HbA1c (ß = -1.058; p = 0.001). CONCLUSION: Disease duration and insulin dose were directly reflected in HbA1c concentrations, while carbohydrate counting showed an inverse association.

Predictive factors of non-HDL cholesterol in children and adolescents with type 1 diabetes mellitius: A cross-sectional study.

AIMS: To assess predictors of non-HDL cholesterol in children and adolescents with T1DM. METHODS: A cross-sectional study of 120 children and adolescents aged 7-16 with T1DM, but without any other chronic morbidities, at a referral outpatient clinic for the treatment of diabetes in Rio de Janeiro, Brazil. Socio-demographic, anthropometric, dietary, and clinical factors were assessed, which included measurements of serum lipids and glycated hemoglobin (HbA1c). Food intake was assessed by 24-h dietary recall. Multiple linear regression was adopted in the analysis. RESULTS: The mean age of of the subjects was 11.74 ±â€¯2.88 years, 53.3% were female, and the mean duration of T1DM was 6.68 ±â€¯3.33 years. The mean energy intake from carbohydrates, proteins, and lipids was 51.98% (±9.20), 21.43% (±6.13), and 26.57% (±9.98), respectively. The energy intake from processed and ultra-processed foods represented 40.79% of total energy intake. The predictors of non-HDL cholesterol were: HbA1c (%) (p = 0.000, ß = 8.5, CI: 4.8-12.1), duration of T1DM (p = 0.000, ß = 2.8, CI: 1.3-4.3), and sex (p = 0.032, ß = 10.1, CI: 0.9-19.4). CONCLUSION: Glycemic control was the major modifiable predictor of non-HDL cholesterol concentrations, a significant indicator of cardiovascular risk.

Perfil lipidico de crianças e adolescentes com Diabetes Mellitus tipo 1 / Lipid profile of children and adolescents with type 1 Diabetes Mellitus

Introdução: Em pacientes com Diabetes Mellitus tipo 1 (DM1), os fatores de risco para o desenvolvimento de doença cardiovascular começam na infância, aumentando o risco de desenvolvimento precoce de lesões de aterosclerose e aceleração da progressão de doenças cardiovasculares na idade adulta. Métodos: Trata-se de um estudo transversal. Todos os pacientes atendidos na clínica até novembro/2011 foram incluí- dos no estudo. As variáveis dependentes foram colesterol total, HDL, LDL e triglicerídeos. As variáveis independentes foram sexo, idade, duração da doença, índice de massa corporal, hemoglobina glicada e tipo de planejamento dietético. Um modelo de regressão logística para cada desfecho foi construído e essas associações foram consideradas significativas com p < 0,05. Resultados: Foram incluídos 195 pacientes, com idade média de 11,01 anos (± 3,78) e 55,9% do sexo masculino. A frequência de sobrepeso foi de 36,7%. O colesterol elevado foi encontrado em 42,8% da amostra, 15,8% apresentaram HDL inadequado, 7,9% LDL aumentado e 12,5% triglicerídeos elevados. As crianças do sexo masculino tiveram maior chance de ter colesterol total elevado (OR 2,21, IC 95%: 1,16-4,20) e 54% menos chance (OR 0,46, IC 95%: 0,23-0,92) de LDL elevado. Quanto aos triglicerídeos, aqueles com idade mais avançada e com pior hemoglobina glicada apresentaram maior chance de hipertrigliceridemia (OR 1,53, IC 95%: 1,23-1,90 e OR 4,89, IC 95%: 1,45- 16,52, respectivamente). Conclusão: Foi encontrada alta prevalência de dislipidemia em crianças e adolescentes com DM1, o que indica a necessidade de definir medidas e estratégias para promover hábitos e estilo de vida saudáveis (AU)

Background: In Type 1 Diabetes Mellitus (T1DM) patients, the risk factors for developing cardiovascular disease begin in childhood, rising the risk of early development of atherosclerosis lesions and accelerated progression of cardiovascular diseases throughout adulthood. Methods: This was a cross-sectional study. All the patients who registered at the clinic until November/2011 were included in the study. The dependent variables were total cholesterol, HDL, LDL and triglycerides. The independent variables were gender, age, disease duration, body mass index, glycated hemoglobin and type of prescribed meal plan. A model of logistic regression for each outcome was built and those associations were considered significant with p < 0.05. Results: 195 patients were included in the study, mean age 11.01 years (± 3.78), and 55.9% were males. The frequency of overweight was 36.7%. High cholesterol was found in 42.8% of the sample, 15.8% had inadequate HDL, 7.9% increased LDL, and 12.5% increased triglyceride. Male children were more likely to have elevated total cholesterol (OR 2.21, 95% CI: 1.16-4.20) and 54% less likely (OR 0.46, 95% CI: 0.23-0.92) to have high LDL. Regarding triglyceride, those with older age and with high glycated hemoglobin had a greater chance of hypertriglyceridemia (OR 1.53, 95% CI: 1.23-1.90 and OR 4.89, 95% CI: 1.45-16,52, respectively). Conclusion: A high prevalence of dyslipidemia was found among children and adolescents with T1DM, indicating the need to defining define measures and strategies to promote healthy eating habits and lifestyle (AU)

Overweight among children and adolescent with type I diabetes mellitus: prevalence and associated factors.

OBJECTIVES: Describe the overweight frequency (overweight and obesity) and identify the factors associated with this in children and adolescents with type 1 diabetes mellitus (T1DM) treated at a University Children's Hospital in Rio de Janeiro. METHODS: This is an analytical cross-sectional study, which included patients diagnosed with T1DM who had complete anthropometric data (weight and height) and excluded those using drugs with effect on weight gain, genetic syndromes, celiac disease, hypothyroidism, renal failure and other chronic diseases, and pregnant women. The data collection was referring to the last consultation, and with respect to laboratory tests, the most recent data was collected. The dependent variable was the overweight, defined as Z score ≥1. The independent variables were gender, age, insulin dose, duration of disease, lipid profile, glycated hemoglobin, type of prescribed food planning, and place of residence. A logistic regression model was built for each outcome studied, considering significant associations those with p < 0.05. RESULTS: The study included 195 patients with a mean age of 10.6 (±3.8) years, and 49.7 % (n = 97) aged less than 10 years. The overweight frequency was 40 % (n = 78). The age ≥10 years (OR 0.41; 95 % CI 0.20-0.86; p = 0.019) and the dose of insulin/kg ideal weight (OR 3.38; 95 % CI 1:55-7:39; p = 0.002) were considered the variables associated with overweight. CONCLUSIONS: There was a high prevalence of overweight, which explains strategies for promoting healthy eating habits and changing lifestyle with a focus on children and adolescents with diabetes.

Health-related quality of life in patients with type 1 diabetes mellitus in the different geographical regions of Brazil: data from the Brazilian Type 1 Diabetes Study Group.

BACKGROUND: In type 1 diabetes mellitus (T1DM) management, enhancing health-related quality of life (HRQoL) is as important as good metabolic control and prevention of secondary complications. This study aims to evaluate possible regional differences in HRQoL, demographic features and clinical characteristics of patients with T1DM in Brazil, a country of continental proportions, as well as investigate which variables could influence the HRQoL of these individuals and contribute to these regional disparities. METHODS: This was a retrospective, cross-sectional, multicenter study performed by the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG), by analyzing EuroQol scores from 3005 participants with T1DM, in 28 public clinics, among all geographical regions of Brazil. Data on demography, economic status, chronic complications, glycemic control and lipid profile were also collected. RESULTS: We have found that the North-Northeast region presents a higher index in the assessment of the overall health status (EQ-VAS) compared to the Southeast (74.6 ± 30 and 70.4 ± 19, respectively; p < 0.05). In addition, North-Northeast presented a lower frequency of self-reported anxiety-depression compared to all regions of the country (North-Northeast: 1.53 ± 0.6; Southeast: 1.65 ± 0.7; South: 1.72 ± 0.7; Midwest: 1.67 ± 0.7; p < 0.05). These findings could not be entirely explained by the HbA1c levels or the other variables examined. CONCLUSIONS: Our study points to the existence of additional factors not yet evaluated that could be determinant in the HRQoL of people with T1DM and contribute to these regional disparities.

Relationship between adherence to diet, glycemic control and cardiovascular risk factors in patients with type 1 diabetes: a nationwide survey in Brazil.

BACKGROUND: To determine the relationship between adherence to the diet reported by patients with type 1 diabetes under routine clinical care in Brazil, and demographic, socioeconomic status, glycemic control and cardiovascular risk factors. METHODS: This was a cross-sectional, multicenter study conducted between December 2008 and December 2010 in 28 public clinics in 20 Brazilian cities. The data was obtained from 3,180 patients, aged 22 ± 11.8 years (56.3% females, 57.4% Caucasians and 43.6% non-Caucasians). The mean time since diabetes diagnosis was 11.7 ± 8.1 years. RESULTS: Overall, 1,722 (54.2%) of the patients reported to be adherent to the diet without difference in gender, duration of diabetes and socioeconomic status. Patients who reported adherence to the diet had lower BMI, HbA1c, triglycerides, LDL-cholesterol, non HDL-cholesterol and diastolic blood pressure and had more HbA1c at goal, performed more frequently self-monitoring of blood glucose (p < 0.001), and reported less difficulties to follow specific schedules of diet plans (p < 0.001). Less patients who reported to be adherent were obese or overweight (p = 0.005). The quantity of food and time schedule of the meals were the most frequent complaints. Logistic regression analysis showed that ethnicity, (Caucasians, (OR 1.26 [1.09-1.47]), number of medical clinical visits in the last year (OR 1.10 [1.06-1.15]), carbohydrate counting, (OR 2.22 [1.49-3.30]) and diets recommended by diabetes societies', (OR 1.57 [1.02-2.41]) were related to greater patients' adherence (p < 0.05) and age, [adolescents (OR 0.60 [0.50-0.72]), high BMI (OR 0.58 [0.94-0.98]) and smoking (OR 0.58 [0.41-0.84]) with poor patients' adherence (p < 0.01). CONCLUSIONS: Our results suggest that it is necessary to rethink medical nutrition therapy in order to help patients to overcome barriers that impair an optimized adherence to the diet.

Glycemic control and lipid profile of children and adolescents undergoing two different dietetic treatments for type 1 diabetes mellitus.

OBJECTIVE: To compare the glycemic control and lipid profile of children and adolescents undergoing two different dietetic treatments for type 1 Diabetes Mellitus assisted at the Children and Adolescent's Diabetes Mellitus Health Center-UFRJ. METHODS: A retrospective longitudinal study conducted between 2002 and 2006. We evaluated the same subjects in two different periods: after 1 year in TD and subsequently after 1 year in CCHO. The evolution of the nutritional status during the dietary treatments was evaluated using Body Mass Index (BMI) for age. The lipid panel was evaluated according to the 1st Guideline for Prevention of Atherosclerosis in Childhood and Adolescence, used in Brazil, and the glycemic control was evaluated by measuring glycated hemoglobin (HbA1c). RESULTS: We evaluated 93 individuals, 38.7% children and 61.3% adolescents. The mean age at study entry was 11.1 (± 2.66) years and the mean disease duration was 6.1 (± 3.2) years. A significant difference in the percentage of adequacy of HbA1c (p = 0.000) and in the values of total plasma cholesterol (p = 0.043) was found after 1 year of CCHO diet, which did not happen during the observation time of TD. The evolution of anthropometric nutritional status showed no significant difference between the beginning and the end of both dietary treatments. CONCLUSION: The results of this study suggest that a more flexible food orientation program can contribute to the improvement of blood glucose levels without causing deterioration of the lipid profile when compared to TD.

Objetivo: Comparar el control glucémico y el perfil lipídico de niños y adolescentes sometidos a dos tratamientos dietéticos distintos para la diabetes mellitus tipo 1 atendidos en el Centro de Salud para Niños y Adolescentes con Diabetes Mellitus-UFRJ. Métodos: Estudio longitudinal retrospectivo realizado entre 2002 y 2006. Evaluamos a los mismos individuos en dos momentos distintos: tras un año en tratamiento para diabetes (TD) y posteriormente tras un año con conteo de hidratos de carbono (CHC). La evolución del estado nutricional durante los tratamientos dietéticos se evaluó empleando el índice de masa corporal (IMC) para la edad. El panel de lípidos se evaluó de acuerdo con la 1ª Guía para la prevención de la aterosclerosis en la infancia y adolescencia, empleada en Brasil, y el control glucémico se evaluó midiendo la hemoglobina glucosilada (HbA1c). Resultados: Evaluamos a 93 individuos, 38,7 % niños y 61,3 % adolescentes. La edad promedio en el momento de entrada en el estudio fue de 11,1 (± 2,66) años y la el promedio de duración de la enfermedad fue de 6,1 (± 3,2) años. Se encontró una diferencia significativa en el porcentaje de adecuación de la HbA1c (p = 0,000) y en los valores del colesterol plasmático total (p = 0,043) tras un año de dieta con CHC, lo cual no ocurrió durante el periodo de observación de TD. La evolución del estado nutricional antropométrico no mostró diferencias significativas entre el inicio y el final de ninguno de los tratamientos dietéticos. Conclusión: Los resultados de este estudio sugieren que un programa de orientación alimentaria más flexible puede contribuir a la mejora de la glucemia sin producir un deterioro del perfil lipídico en comparación con el TD.

Glycemic control and lipid profile of children and adolescents undergoing two different dietetic treatments for type 1 diabetes mellitus / Control glucémico y perfil lipídico de niños y adolescentes sometidos a dos tratamientos dietéticos distintos para la diabetes mellitus tipo 1

Objective: To compare the glycemic control and lipidprofile of children and adolescents undergoing two different dietetic treatments for type 1 Diabetes Mellitus assisted at the Children and Adolescent’s Diabetes Mellitus Health Center-UFRJ. Methods: A retrospective longitudinal study conducted between 2002 and 2006. We evaluated the same subjects in two different periods: after 1 year in TD and subsequently after 1 year in CCHO. The evolution of the nutritional status during the dietary treatments was evaluated using Body Mass Index (BMI) for age. The lipid panel was evaluated according to the 1st Guideline for Prevention of Atherosclerosis in Childhood and Adolescence, used in Brazil, and the glycemic control was evaluated by measuring glycated hemoglobin (HbA1c).Results: We evaluated 93 individuals, 38.7% children and 61.3% adolescents. The mean age at study entry was11.1 (± 2.66) years and the mean disease duration was 6.1(± 3.2) years. A significant difference in the percentage of adequacy of HbA1c (p = 0.000) and in the values of total plasma cholesterol (p = 0.043) was found after 1 year of CCHO diet, which did not happen during the observation time of TD. The evolution of anthropometric nutritional status showed no significant difference between the beginning and the end of both dietary treatments. Conclusion: The results of this study suggest that a more flexible food orientation program can contribute to the improvement of blood glucose levels without causing deterioration of the lipid profile when compared to TD (AU)

Objetivo: Comparar el control glucémico y el perfillipídico de niños y adolescentes sometidos a dos tratamientos dietéticos distintos para la diabetes mellitus tipo1 atendidos en el Centro de Salud para Niños y Adolescentes con Diabetes Mellitus-UFRJ. Métodos: Estudio longitudinal retrospectivo realizado entre 2002 y 2006. Evaluamos a los mismos individuos en dos momentos distintos: tras un año en tratamiento paradiabetes (TD) y posteriormente tras un año con conteo de hidratos de carbono (CHC). La evolución del estado nutricional durante los tratamientos dietéticos se evaluó empleando el índice de masa corporal (IMC) para la edad. El panel de lípidos se evaluó de acuerdo con la 1ª Guía para la prevención de la aterosclerosis en la infancia y adolescencia, empleada en Brasil, y el control glucémicose evaluó midiendo la hemoglobina glucosilada (HbA1c).Resultados: Evaluamos a 93 individuos, 38,7 % niños y 61,3 % adolescentes. La edad promedio en el momento de entrada en el estudio fue de 11,1 (± 2,66) años y la el promedio de duración de la enfermedad fue de 6,1 (± 3,2)años. Se encontró una diferencia significativa en el porcentaje de adecuación de la HbA1c (p = 0,000) y en los valores del colesterol plasmático total (p = 0,043) tras un año de dieta con CHC, lo cual no ocurrió durante el periodo de observación de TD. La evolución del estado nutricional antropométrico no mostró diferencias significativas entre el inicio y el final de ninguno de los tratamientos dietéticos. Conclusión: Los resultados de este estudio sugieren que un programa de orientación alimentaria más flexible puede contribuir a la mejora de la glucemia sin producir un deterioro del perfil lipídico en comparación con el TD (AU)

Economic status and clinical care in young type 1 diabetes patients: a nationwide multicenter study in Brazil.

The aim of this study is to evaluate the influence of economic status on clinical care provided to Brazilian youths with type 1 diabetes in daily practice, according to the American Diabetes Association's guidelines. This was a cross-sectional, multicenter study conducted between 2008 and 2010 in 28 public clinics in Brazil. Data were obtained from 1,692 patients (55.3 % female, 56.4 % Caucasian), with a mean age of 13 years (range, 1-18), a mean age at diagnosis of 7.1 ± 4 years and diabetes duration of 5 ± 3.7 years. Overall, 75 % of the patients were of a low or very low economic status. HbA1c goals were reached by 23.2 %, LDL cholesterol by 57.9 %, systolic blood pressure by 83.9 % and diastolic blood pressure by 73.9 % of the patients. In total, 20.2 % of the patients were overweight and 9.2 % were obese. Patients from very low economic status were less likely to attend tertiary care level when compared with those from low, medium and high economic status, 64.2 % versus 75.5 % versus 78.3 % and 74.0 %; p < 0.001, respectively. The rate of annual screening for retinopathy, nephropathy and for foot alterations was 66.2, 69.7 and 62.7 %, respectively. Insulin dose, age, very low economic status, daily frequency of self-blood glucose monitoring and female gender were independently associated with poor glycemic control. Screening for diabetic complications and attaining glucose, lipid and blood pressure goals present a challenge for young Brazilian type 1 diabetes patients. The low economic status of the majority of our patients may represent a barrier to reaching these goals.

[Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report]. / Deficiência de hormônio do crescimento, hipotireoidismo e cromossomo 18 em anel: relato de caso.

INTRODUCTION: The association of 18-ring chromosome syndrome and growth hormone deficiency (GHD) is extremely rare, with only two reports in the literature. CASE REPORT: A one year-old, non-white female was referred due to hypoglycemic seizures. She had developmental delay and poor nutrition. Her physical examination was significant for a weight Z score of -6.95, height Z score of -5,05, cleft palate, epicanthic folds and generalized hypotony. Karyotype was 46XX r(18) (p11,2- q.23)--18 ring chromosome syndrome, the MRI showed an ectopic neurohypophysis. The diagnosis GHD was made due to low GH levels during spontaneous severe hypoglycemia at the age of 16 months. She was started on hGH 0.1 U/kg/day. Three months later, TSH deficiency was diagnosed and L-thyroxin therapy was started. During hGH replacement the hypoglycemic events stopped but after 3 years of hGH therapy, she did not improve growth velocity. DISCUSSION: We were unable to find any report of GHD and hypothyroidism associated with the 18-ring chromosome syndrome. Children with 18-ring chromosome should undergo investigation of GHD. In our child with 18-ring syndrome the hGH therapy did not improve growth velocity.

Deficiência de hormônio do crescimento, hipotireoidismo e cromossomo 18 em anel: relato de caso / Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report / Growth hormone deficiency, hypothyroidism and ring chromosome 18: case report

INTRODUÇÃO: A associação de síndrome do cromossomo 18 em anel com deficiência de hormônio de crescimento (DGH) é muito rara, com apenas dois relatos na literatura. RELATO DO CASO: Paciente feminina, negra, 1 ano de idade, encaminhada para investigação de crises de hipoglicemia desde os 6 meses, acompanhadas de crise convulsiva. Apresentava atraso do desenvolvimento neuropsicomotor e erro alimentar. Ao exame físico, criança desnutrida (escores z peso/idade de -6,95 e estatura/idade de -5,05), fenda palatina, prega epicântica e hipotonia generalizada. O diagnóstico de DGH foi feito em vigência de hipoglicemia e iniciado o tratamento com somatropina 0,1 U/kg aos 16 meses de idade. A RM do crânio evidenciou neuro-hipófise ectópica. O hipotireoidismo foi diagnosticado com 1 ano e 7 meses, sendo adicionada levotiroxina ao tratamento. O cariótipo 46XX r(18) (p11,2 ­ q.23), estabeleceu o diagnóstico de síndrome do cromossomo 18 em anel. Está em uso de GH há 3 anos, os episódios de hipoglicemia com crise convulsiva desapareceram mas não houve melhora da velocidade de crescimento. DISCUSSÃO: Não foram encontrados na literatura relatos da associação de DGH, hipotireoidismo e cromossomo 18 em anel. Crianças com cromossomo 18 em anel merecem investigação para DGH. A reposição com GH não melhorou o crescimento da nossa paciente.

INTRODUCTION: The association of 18-ring chromosome syndrome and growth hormone deficiency (GHD) is extremely rare, with only two reports in the literature. CASE REPORT: A one year-old, non-white female was referred due to hypoglycemic seizures. She had developmental delay and poor nutrition. Her physical examination was significant for a weight Z score of -6.95, height Z score of -5,05, cleft palate, epicanthic folds and generalized hypotony. Karyotype was 46XX r(18) (p11,2 ­ q.23) - 18 ring chromosome syndrome, the MRI showed an ectopic neurohypophysis. The diagnosis GHD was made due to low GH levels during spontaneous severe hypoglycemia at the age of 16 months. She was started on hGH 0.1 U/kg/day. Three months later, TSH deficiency was diagnosed and L-thyroxin therapy was started. During hGH replacement the hypoglycemic events stopped but after 3 years of hGH therapy, she did not improve growth velocity. DISCUSSION: We were unable to find any report of GHD and hypothyroidism associated with the 18-ring chromosome syndrome. Children with 18-ring chromosome should undergo investigation of GHD. In our child with 18-ring syndrome the hGH therapy did not improve growth velocity.