Diabetes mellitus in childhood: an emerging condition in the 21st century.

The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years. DM1 is considered an immuno-mediated disease with a complex transmission influenced by genetic and environmental factors responsible for a gradual destruction of the insulin producing pancreatic beta cells. Seroconversion to DM1-associated autoantibodies and abnormalities in metabolic tests that assess insulin secretion and glucose tolerance can be used as predictive criteria of beta cells functional reserve and the onset of the clinical disease. Symptomatic DM1 treatment is complex and the maintenance of good metabolic control is still the only effective strategy for preserving beta cell function. Disease duration and hyperglycemia are both risk factors for the onset of chronic vascular complications that negatively affect the quality of life and survival of these patients. In this regard, health teams must be trained to provide the best possible information on pediatric diabetes, through continuing education programs focused on enabling these young people and their families to diabetes self-management.

Diabetes mellitus in childhood: an emerging condition in the 21st century / Diabetes mellitus na infância: uma condição emergente no século 21

Summary The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years. DM1 is considered an immuno-mediated disease with a complex transmission influenced by genetic and environmental factors responsible for a gradual destruction of the insulin producing pancreatic beta cells. Seroconversion to DM1-associated autoantibodies and abnormalities in metabolic tests that assess insulin secretion and glucose tolerance can be used as predictive criteria of beta cells functional reserve and the onset of the clinical disease. Symptomatic DM1 treatment is complex and the maintenance of good metabolic control is still the only effective strategy for preserving beta cell function. Disease duration and hyperglycemia are both risk factors for the onset of chronic vascular complications that negatively affect the quality of life and survival of these patients. In this regard, health teams must be trained to provide the best possible information on pediatric diabetes, through continuing education programs focused on enabling these young people and their families to diabetes self-management.

Resumo A Federação Internacional de Diabetes (IDF-2015) estima a existência no Brasil de 30.900 menores de 15 anos portadores de diabetes mellitus tipo 1 (DM1), com previsão de aumento de 3,0% ao ano. Esta revisão buscou artigos de metanálise e atualização em diabetes infantil com o objetivo de alertar para a necessidade do planejamento de estratégias de enfrentamento deste que tende a ser um sério problema de saúde pública para os próximos anos. O DM1 é considerado uma doença imunomediada de transmissão complexa, influenciada por fatores genéticos e ambientais determinantes da destruição gradual das células beta pancreáticas produtoras de insulina. A positividade sorológica dos autoanticorpos associados ao DM1 e a alteração de testes metabólicos que avaliam a secreção de insulina e o estado glicêmico podem ser utilizados como critérios de previsão da reserva funcional de células beta e do início clínico da doença. O tratamento do DM1 sintomático é complexo, e a manutenção do bom controle metabólico é ainda a única estratégia efetiva de preservação das células beta ainda funcionantes. Tempo de duração da doença e hiperglicemia são fatores de risco para a instalação das complicações vasculares crônicas, que afetam negativamente a qualidade de vida e a sobrevida desses indivíduos. Torna-se necessária a formação de equipes de saúde preparadas para fornecer a melhor informação possível em diabetes infantil, através de programas de educação continuada, com potencial de capacitar esses jovens e suas famílias para o autocuidado.

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

BACKGROUND: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. OBJECTIVE: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. METHODS: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype. The gene founder effect was analyzed by microsatellite studies. Patients were divided into six genotypes (Null; A: <2%; B: 3-7%; C: >20% of residual enzymatic activity (EA); D: unknown EA; E: incomplete genotype). RESULTS: Targeted methodologies defined genotype in 87.6% of classical and in 80% of NC patients and the addition of sequencing in 100 and 83.5%, respectively. The most frequent mutations were p.V281L (26.6% of alleles), IVS2-13A/C>G (21.1%), and p.I172N (7.5%); seven rare mutations and one novel mutation (p.E351V) were identified. Gene founder effect was observed in all but one (p.W19X) mutation. Null, A, B, and C genotypes correlated with SW (88%), SW (70%), SV (98%), and NC forms (100%), respectively. In group D, the p.E351V mutation correlated with classical form and group E comprised exclusively NC-patients. ACTH-stimulated 17OHP level of 44.3ng/mL was the best cutoff to identify NC-patients carrying severe mutations. CONCLUSIONS: We identified a good genotype-phenotype correlation in CAH, providing useful data regarding prediction of disease's severity; moreover, we suggest that ACTH-stimulated 17OHP levels could predict carrier status for severe mutations. Sequencing is essential to optimize molecular diagnosis in Brazilian CAH patients.

Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up.

BACKGROUND: McCune-Albright syndrome (MAS) is a genetic disorder characterized by the triad of fibrous dysplasia, skin hyperpigmentation, and autonomous hyperfunction of various endocrine organs. MAS frequently presents in females as precocious puberty (PP). Although many treatments have been proposed, the preservation of final height (FH) in these patients remains a challenge. OBJECTIVES: To evaluate the efficacy of tamoxifen in improving the FH prediction (FHP) in patients with MAS. METHOD: We retrospectively analyzed 8 female patients with MAS who presented with café-au-lait spots and gonadotropin-independent PP. The patients were followed for a mean period of 8.3 years (range: 3-16). RESULTS: All patients were treated with tamoxifen (10-20 mg/day) for 3-8 years (mean ± SD: 5.75 ± 2.05), which resulted in the cessation of vaginal bleeding and the stabilization of bone age maturation. There was a significant difference between the FHP at the beginning of treatment and at the end of treatment (145.1 ± 8.6 cm; Z score -2.84 ± 1.44 cm) and at the last evaluation (157.0 ± 9.2 cm; Z score -0.85 ± 0.54 cm; p < 0.001). CONCLUSION: Our results support a role for tamoxifen in improving the FHP in patients with MAS.

Tireoidite autoimune na criança e no adolescente / Autoimmune thyroiditis in children and adolescents

Objetivo: Revisão da literatura sobre a tireoidite de Hashimoto no universo das doenças autoimunes em crianças e adolescentes. Fontes: MEDLINE, utilizando os termos tireoidite, doença de Hashimoto, genética da autoimunidade tireoidiana. Resumo: Doenças tireoidianas autoimunes são doenças endócrinas frequentes da criança e do adolescente. Genes como antígeno humano leucocitário (HLA), antígeno-4 associado ao linfócito T citotóxico (CTLA-4), a proteína tirosina-fosfatase 22 (PTPN22) e os genes específicos da glândula tireoide, como o receptor do TSH (TSHR) e tireoglobulina (Tg) afetam a resposta imunológica da tireoide. A tireoidite autoimune pode apresentar funções tireoidianas desde eutireoidismo até hipotireoidismo evidente, além de um quadro inicial, transitório, de hipertireoidismo e tem sido associada a doenças autoimunes como diabetes, doenças reumáticas, doença celíaca. Função tiroidiana e associações com outras doenças autoimunes são destacados...

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism / Uma nova mutação DAX1/NR0B1 em um paciente com hipoplasia adrenal congênita e hipogonadismo hipogonadotrófico

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500.

Relatamos um caso de hipoplasia adrenal congênita (HAC) e hipogonadismo hipogonadotrófico (HH) causado por uma nova mutação do gene DAX1. Paciente do sexo masculino com 19 meses de idade, hiperpigmentação e desenvolvimento inadequado foi encaminhado ao nosso serviço. Antecedente familiar de três irmãos falecidos por falência da adrenal, e um primo materno portador de insuficiência adrenal. Excluída a hipótese de adrenoleucodistrofia. A RM demonstrou hipófise e hipotálamo normais. Os níveis de hormônios plasmáticos mostraram alta concentração de ACTH (até 2.790 pg/mL) e baixos níveis de androstenediona, DHEA-S, 11-deoxicortisol e cortisol. Aos 14 anos de idade, o paciente ainda era pré-púbere, com peso de 43,6 kg (SDS: -0,87) e altura de 161 cm (SDS: -0,36), proporcionado. O teste do GnRH mostrou níveis basais e máximos de LH e FSH, respectivamente, iguais a 0,6/2,1 e < 1,0/< 1,0 U/L. A análise molecular identificou uma nova mutação que consiste da deleção do códon 372 (AAC; asparagina) no éxon 1 do gene DAX1. Essa mutação não foi encontrada em 200 alelos de indivíduos normais. A análise no site PredictProtein indicou que essa alteração, localizada no domínio de ligação do DAX1, pode danificar a proteína. Nossa hipótese é que essa nova mutação (p.Asp372del) do gene DAX1 pode levar a uma alteração na função da proteína DAX1 e está provavelmente envolvida no desenvolvimento da HAC e HH nesse paciente. Arq Bras Endocrinol Metab. 2012;56(8):496-500.

Evaluation of adrenal reserve in children with acute lymphocytic leukemia treated with prednisone or dexamethasone.

BACKGROUND/AIMS: The purpose of this study was to compare adrenal gland reserve in acute lymphocytic leukemia (ALL) patients 8 weeks after treatment with either prednisone (PRED) or dexamethasone (DEX) during the induction phase of therapy. METHODS: A double-blind comparative study of patients treated with PRED and DEX was performed. Sixteen patients received PRED (40 mg/m(2)/day) and 13 patients received DEX (6 mg/m(2)/day), both for 28 days. A low-dose adrenocorticotropic hormone test (1.0 µg/m(2), IV) was performed before and weekly for 8 weeks after abrupt cessation of glucocorticoid therapy. Sixteen children without ALL were used as controls to determine the cutoff peak cortisol level (14.2 µg/dl). RESULTS: Both groups (PRED and DEX) displayed similar mean peak cortisol levels before treatment and during the 8 weeks of evaluation (p = 0.652). No relationship was observed between the incidence of infection/stress and peak cortisol level within each group, nor was there a difference in the frequency of infection/stress between groups (p = 0.359). Although the patients presented variations in peak cortisol during the study period, no signs or symptoms of adrenal insufficiency were observed. CONCLUSION: Patients who received PRED or DEX for 4 weeks showed similar adrenal reserves and infection rates for 8 weeks after abruptly stopping glucocorticoid therapy, suggesting that DEX, which is a better antileukemic drug than PRED, has similar adrenal suppression and recovery rates.

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient.

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels. Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient. These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels.

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities / Mutação nova do gene MCT8 em menino Brasileiro com resistência ao hormônio tireioidiano e neuropatia grave

O MCT8 é um transportador celular de hormônios tireoidianos, importante para sua ação e metabolização. Relatamos o caso de um menino com a nova mutação inativadora 630insG no éxon 1 do MCT8. O paciente caracterizou-se por grave comprometimento neurológico (inicialmente com hipotonia global, evoluindo com hipertonia generalizada), crescimento normal nos dois primeiros anos de vida, reduzido ganho ponderal e ausência dos sinais e sintomas típicos de hipotireoidismo. A sua avaliação sérica revelou elevação do T3, redução do T4 total e livre e TSH levemente aumentado. O tratamento com levotiroxina melhorou o perfil hormonal tireoidiano, mas não modificou o quadro clínico do paciente. Esses dados reforçam o conceito de que o papel do MCT8 é tecido-dependente: enquanto os neurônios são altamente dependentes do MCT8, o osso, o tecido adiposo, o músculo e o fígado são menos dependentes do MCT8 e, portanto, podem sofrer as consequências da exposição a níveis séricos elevados de T3.

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels. Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient. These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels.

Avaliação dos principais efeitos endócrinos tardios em crianças e adolescentes sobreviventes ao tratamento de neoplasias malignas / Evaluation of the main late endocrine effects in children and adolescents after treatment of malignancies

OBJETIVO: Relatar os efeitos endócrinos tardios em crianças e adolescentes após tratamento oncológico e associá-los à doença de base e ao tratamento. SUJEITOS E MÉTODOS: Foram realizadas avaliações clínicas e laboratoriais visando à detecção de distúrbios endócrinos em 320 pacientes após terapia oncológica, seguidos por seis anos. RESULTADOS: Em 94 pacientes, detectaram-se: 32 pacientes apresentaram baixa estatura (nove em tratamento com hormônio de crescimento), 14 tiveram puberdade precoce (10 em uso de análogo de GnRH) e 19 revelaram ser portadores de distúrbios de tireoide (12 com hipotireoidismo, seis com nódulos de tireoide e um com tireoidite linfocitária crônica). Obesidade foi encontrada em 18 deles. Seis com diabetes insípido e cinco com puberdade atrasada, três com pan-hipopituitarismo. Houve associação entre a radioterapia e a presença de endocrinopatias. CONCLUSÃO: Noventa e quatro de 320 (30 por cento) dos pacientes fora de terapia apresentaram alteração endócrina, o que enfatiza a importância do seguimento precoce e regular, possibilitando-lhes, com tratamento, melhor qualidade de vida.

OBJECTIVE: To report the main endocrine effects after cancer treatment in children and adolescents and associate them to the disease and its treatment. SUBJECTS AND METHODS: Clinical and lab evaluation for endocrinopathy was performed in 320 patients after cancer therapy have been followed for six years. RESULTS: The most prevalent endocrine late effects in patients were: 32 patients had short stature, nine of them were under growth hormone therapy. Precocious puberty was found in 14 patients, 10 of them received GnRH analog. Thyroid diseases were present in 19 patients (12 with hypothyroidism; six with thyroid nodules/cysts; one with chronic lymphocytic thyroidytis). Obesity was found in 18 patients. Six presented insipidus diabetes, five delayed puberty and three panhypopituitarism. Radiation was associated with the appearance of the aforementioned endocrinopathies. CONCLUSION: Ninety four of 320 (30 percent) patients presented endocrine late effects which emphasize the importance for these patients to be regularly followed-up in order to precociously diagnose endocrine late effects and provide them a better quality of life.

[Evaluation of the main late endocrine effects in children and adolescents after treatment of malignancies]. / Avaliação dos principais efeitos endócrinos tardios em crianças e adolescentes sobreviventes ao tratamento de neoplasias malignas.

OBJECTIVE: To report the main endocrine effects after cancer treatment in children and adolescents and associate them to the disease and its treatment. SUBJECTS AND METHODS: Clinical and lab evaluation for endocrinopathy was performed in 320 patients after cancer therapy have been followed for six years. RESULTS: The most prevalent endocrine late effects in patients were: 32 patients had short stature, nine of them were under growth hormone therapy. Precocious puberty was found in 14 patients, 10 of them received GnRH analog. Thyroid diseases were present in 19 patients (12 with hypothyroidism; six with thyroid nodules/cysts; one with chronic lymphocytic thyroidytis). Obesity was found in 18 patients. Six presented insipidus diabetes, five delayed puberty and three panhypopituitarism. Radiation was associated with the appearance of the aforementioned endocrinopathies. CONCLUSION: Ninety four of 320 (30%) patients presented endocrine late effects which emphasize the importance for these patients to be regularly followed-up in order to precociously diagnose endocrine late effects and provide them a better quality of life.

[Search of prostatic tissue in 46,XX congenital adrenal hyperplasia]. / Pesquisa de tecido prostático em pacientes 46,XX portadoras da forma clássica de hiperplasia congênita das suprarrenais.

OBJECTIVES: To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI. METHODS: We studied 52 children and adolescents, 32 with the classical form of congenital adrenal hyperplasia, 10 boys and 10 girls without CAH. Pelvic MRI was performed in all patients to detect prostatic tissue. Prostate specific antigen, testosterone and dihydrotestosterone were measured in all patients. We used Receiver Operating Characteristic Curve for PSA discrimination capacity. RESULTS: Five girls with congenital adrenal hyperplasia showed image of prostatic tissue on pelvic MRI. Prostate specific antigen showed sensitivity and specificity of 100% and 88.9%, respectively, taking 0.1 ng/mL as the cutoff level. CONCLUSIONS: The incidence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia was 15.6%. PSA demonstrated to be a good marker of prostatic tissue in these patients and should be used to screen patients to be submitted to image studies.

Pesquisa de tecido prostático em pacientes 46, XX portadoras da forma clássica de hiperplasia congênita das suprarrenais / Search of prostatic tissue in 46, XX congenital adrenal hyperplasia

OBJETIVOS: Verificar a ocorrência de tecido prostático em pacientes portadoras da forma clássica de hiperplasia congênita das suprarrenais, com cariótipo 46,XX e analisar a sensibilidade e a especificidade do antígeno prostático específico (PSA) das pacientes com hiperplasia congênita das suprarrenais em relação à detecção de tecido prostático na ressonância magnética (RNM) de região pélvica. MÉTODOS: Foram estudadas 52 crianças e adolescentes, sendo 32 meninas portadoras da forma clássica de hiperplasia congênita das suprarrenais, 10 meninas e 10 meninos sem hiperplasia congênita das suprarrenais. A RNM da região pélvica e a coleta de PSA, diidrotestosterona e testosterona foram realizadas em todos os pacientes. Para analisar a capacidade de discriminação do antígeno prostático-específico, foi utilizada a curva ROC (receiver operating characteristic curve). RESULTADOS: Cinco das 32 pacientes portadoras de hiperplasia congênita das suprarrenais apresentaram tecido prostático na RNM de região pélvica. Para concentração de antígeno prostático-específico de 0,1 ng/mL, obteve-se sensibilidade de 100 por cento e especificidade de 88,9 por cento para a detecção de tecido prostático. CONCLUSÕES: A ocorrência de tecido prostático nas pacientes portadoras de hiperplasia congênita das suprarrenais estudadas foi de 15,6 por cento. O antígeno prostático-específico mostrou ser valioso marcador de tecido prostático nestas pacientes.

OBJECTIVES: To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI. METHODS: We studied 52 children and adolescents, 32 with the classical form of congenital adrenal hyperplasia, 10 boys and 10 girls without CAH. Pelvic MRI was performed in all patients to detect prostatic tissue. Prostate specific antigen, testosterone and dihydrotestosterone were measured in all patients. We used Receiver Operating Characteristic Curve for PSA discrimination capacity. RESULTS: Five girls with congenital adrenal hyperplasia showed image of prostatic tissue on pelvic MRI. Prostate specific antigen showed sensitivity and specificity of 100 percent and 88.9 percent, respectively, taking 0.1 ng/mL as the cutoff level. CONCLUSIONS: The incidence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia was 15.6 percent. PSA demonstrated to be a good marker of prostatic tissue in these patients and should be used to screen patients to be submitted to image studies.

Home blood glucose monitoring in type 1 diabetes mellitus.

OBJECTIVE: To determine which of two simplified blood glucose monitoring schemes promotes better metabolic control in type 1 diabetic patients during 12 months of participation in educational groups. METHODS: A crossover clinical trial involving 21 patients divided into two groups was conducted. They were submitted to a two monitoring schemes: 2 alternate daily preprandial measurements and 2 alternate daily pre-and postprandial measurements. The effectiveness of the schemes was evaluated based on HbA1c. Variations in mean HbA1c were analyzed by Friedman test. RESULTS: The groups were homogenous in terms of sociodemographic and clinical variables (p>0.05). Mean HbA1c levels ranged from 8.48 (+/-1.00) to 7.37 (+/-0.99) over time in Group A and from 9.89 (+/-0.86) to 8.34 (+/-1.06) in Group B. The analysis of the HbA1c showed a significant reduction in the first and last 6 months and over the 12 months of the study in two groups (p<0.05). The preprandial scheme demonstrated the largest number and highest percentage of significant drops in HbA1c. CONCLUSIONS: The two monitoring improved the metabolic control and the preprandial scheme was more effective.

Home blood glucose monitoring in type 1 diabetes mellitus / Monitorización, en el domicilio, de la glucemia en pacientes con diabetes mellitus tipo 1 / Monitorização domiciliar da glicemia em pacientes com diabetes mellitus do tipo 1

OBJECTIVE: To determine which of two simplified blood glucose monitoring schemes promotes better metabolic control in type1 diabetic patients during 12 months of participation in educational groups. METHODS: A crossover clinical trial involving 21 patients divided into two groups was conducted. They were submitted to a two monitoring schemes:2 alternate daily preprandial measurements and 2 alternate daily pre-and postprandial measurements. The effectiveness of the schemes was evaluated based on HbA1c. Variations in mean HbA1c were analyzed by Friedman test. RESULTS: The groups were homogenous in terms of sociodemographic and clinical variables (p>0.05). Mean HbA1c levels ranged from 8.48 (±1.00) to 7.37 (±0.99) over time in Group A and from 9.89 (±0.86) to 8.34 (±1.06) in Group B. The analysis of the HbA1c showed a significant reduction in the first and last 6 months and over the 12 months of the study in two groups (p<0.05). The preprandial scheme demonstrated the largest number and highest percentage of significant drops in HbA1c. CONCLUSIONS: The two monitoring improved the metabolic control and the preprandial scheme was more effective.

OBJETIVO: Identificar cual de los dos esquemas de monitorización propuestos posibilita realizar un mejor control metabólico, en diabéticos del tipo1, durante los 12 meses de participación en grupos educativos. MÉTODO: Ensayo clínico cruzado con 21 pacientes divididos en dos grupos y sometidos a dos diferentes esquemas de monitorización. La efectividad de los esquemas fue evaluada por medio de la HbA1c. La variación de los promedios de HbA1c fue analizada con la prueba de Friedman. RESULTADOS: Durante todo el estudio la variación de los promedios de HbA1c, para el grupo A, fue de 8,48(±1,00) la 7,37(±0,99) y de 9,89(±0,86) la 8,34(±1,06) para el grupo B. Los análisis de la variación de la HbA1c colocaron en evidencia una reducción significativa (p<0,05) en los dos grupos, en los 3 periodos evaluados: primeros y últimos 6 meses y durante los 12 meses de estudio. CONCLUSIONES: Los dos esquemas mejoraron el control metabólico y el esquema antes de las comidas fue más efectivo.

OBJETIVO: Identificar qual de dois esquemas simplificados de monitorização da glicemia viabiliza melhor controle metabólico, em pacientes com diabetes mellitus tipo 1, ao longo de 12 meses de participação em grupos educativos. MÉTODO: Ensaio clínico cruzado, com 21 pacientes divididos em dois grupos. Eles foram submetidos a dois esquemas de monitorização: duas medidas diárias pré-prandiais alternadas e duas medidas diárias pré e pós-prandiais alternadas. A efetividade dos esquemas foi avaliada pelos níveis de HbA1c. Para estudar a variação das médias das HbA1c aplicou-se o teste não paramétrico de Friedman. RESULTADOS: Os grupos eram homogêneos ao início do estudo com relação às variáveis sócio-demográficas e clinicas(p>0,05). A variação das médias de HbA1c, ao longo do tempo para o grupo A foi de 8,48(±1,00) a 7,37(±0,99) e para o grupo B de 9,89(±0,86) a 8,34(±1,06). O resultado da análise da variação da HbA1c mostrou redução significativa nos dois grupos, nos primeiros e últimos 6 meses e ao longo dos 12 meses nos dois grupos (p<0,05). O Esquema de monitorizações pré-prandiais possibilitou o maior número e os maiores percentuais de quedas estatisticamente significativas nos níveis de hemoglobina glicada. CONCLUSÕES: Os dois esquemas melhoraram o controle metabólico e esquema pré-prandial foi mais efetivo.

Baixa estatura por insensibilidade ao hormônio de crescimento / Short stature caused by growth hormone insensitivity

Objetivo: crianças portadoras de baixa estatura apresentam um grande número de opções diagnósticas. Muitas vezes não se consegue estabelecer o diagnóstico preciso...

Introduction: Tasks for diagnosing short stature in children has been challenged by a broad array of pathways. Precise diagnosis has been often unconspicuous...

[Prader-Willi syndrome: metabolic aspects related to growth hormone treatment]. / Síndrome de Prader-Willi: aspectos metabólicos associados ao tratamento com hormônio de crescimento.

AIM: The focus of this study was to evaluate the metabolic profile of Prader-Willi Syndrome (PWS) patients treated with growth hormone. PATIENTS AND METHODS: Seven patients (four boys and three girls) with ages between six years and six months and 14 years and 11 months were treated with GH 0.1 U/kg/day subcutaneous by six times a week, for two years. Anthropometric data, lipids, glucose, IGF-I and body composition were evaluated at baseline and after 12 and 24 months. RESULTS: IGF-I levels increased in all cases. Skin folds decreased. The mean reduction in body fat was 5.0% and the mean increased in lean mass was 7.6 kg in the prepubertal patients. The pubescent girl increased 4.8 kg and showed a 5.6% decrease in fat mass. A mean gain in the bone mass was 0.07 g/cm(2) (7.3%) in prepubescent cases, and 0.02 g/cm(2) (2.0%) in the pubescent girl. CONCLUSION: In our study GH treatment improved lean body and bone masses and had beneficial effect on lipid values.

Síndrome de Prader-Willi: aspectos metabólicos associados ao tratamento com hormônio de crescimento / Prader-Willi syndrome: metabolic aspects related to growth hormone treatment

OBJETIVOS: Avaliar as alterações metabólicas de crianças e adolescentes portadores da Síndrome de Prader-Willi tratadas com hormônio de crescimento recombinante humano (rhGH). CASUíSTICA E MÉTODOS: Foram estudados sete pacientes: quatro meninos e três meninas, com idades de seis anos e seis meses a 14 anos e 11 meses. Receberam rhGH, 0,1 U/Kg/dia subcutâneo, seis vezes por semana, durante dois anos. Avaliamos dados antropométricos, lípides séricos, glicemia, IGF-I e composição corpórea, no início e após 12 e 24 meses de tratamento com rhGH. RESULTADOS: Todos os pacientes tiveram elevação do IGF-I. Houve diminuição das pregas cutâneas, sendo que a média de perda de massa adiposa foi de 5,0 por cento e a massa magra aumentou em média 7,6 kg nos pré-púberes, e a paciente púbere ganhou 4,8 kg e teve um decréscimo de 5,6 por cento de massa adiposa. Houve ganho de massa óssea de 0,07 g/cm² (7,3 por cento) nos pré-púberes e de 0,02 g/cm² (2,0 por cento) na menina púbere. CONCLUSÃO: Em nosso estudo, o uso do hormônio de crescimento na Síndrome de Prader-Willi melhorou a composição corpórea e demonstrou aumento da massa muscular e massa óssea com melhora dos níveis lipídicos.

AIM: The focus of this study was to evaluate the metabolic profile of Prader-Willi Syndrome (PWS) patients treated with growth hormone. PATIENTS AND METHODS: Seven patients (four boys and three girls) with ages between six years and six months and 14 years and 11 months were treated with GH 0.1 U/kg/day subcutaneous by six times a week, for two years. Anthropometric data, lipids, glucose, IGF-I and body composition were evaluated at baseline and after 12 and 24 months. RESULTS: IGF-I levels increased in all cases. Skin folds decreased. The mean reduction in body fat was 5.0 percent and the mean increased in lean mass was 7.6 kg in the prepubertal patients. The pubescent girl increased 4.8 kg and showed a 5.6 percent decrease in fat mass. A mean gain in the bone mass was 0.07 g/cm² (7.3 percent) in prepubescent cases, and 0.02 g/cm² (2.0 percent) in the pubescent girl. CONCLUSION: In our study GH treatment improved lean body and bone masses and had beneficial effect on lipid values.

[Hypoglycemia in type 1 diabetic patients]. / Hipoglicemia em pacientes com diabetes mellitus do tipo 1.

The study analyzed the occurrence of hypoglycemia and metabolic control of two monitoring schemes in type-1 diabetic patients during 12 months they participated in education groups. Clinical crossed trials were conducted with 21 patients divided into two groups included the monitoring scheme proposed. Glycemic individuals' profiles directed monthly adjustments of insulin doses. The analyses were performed using Fisher, t-Student and Friedman's tests. There were no significant differences in hypoglycemia between the groups in any given month or scheme (p > 0.05). The comparisons within groups between insulin mean dose and HbA1c, and hypoglycemic episodes also did not show significant difference (p > 0.05). Metabolic control improved during the study in both groups, independently from the monitoring scheme (p < 0.05).