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Background: Metabolic Syndrome (MetS) has a high prevalence in children, and its presence increases in those with a high BMI. This fact confirms the need for early detection to avoid the development of other comorbidities. Non-invasive variables are presented as a cost-effective and easy to apply alternative in any clinical setting. Aim: To propose a non-invasive method for the early diagnosis of MetS in overweight and obese Chilean children. Methods: We conducted a cross-sectional study on 221 children aged 6 to 11 years. We carried out multivariate logistic regressions, receiver operating characteristic curves, and discriminant analysis to determine the predictive capacity of non-invasive variables. The proposed new method for early detection of MetS is based on clinical decision trees. Results: The prevalence of MetS was 26.7%. The area under the curve for the BMI and waist circumference was 0.827 and 0.808, respectively. Two decision trees were calculated: the first included blood pressure (&ge, 104.5/69 mmHg), BMI (&ge, 23.5 Kg/m2) and WHtR (&ge, 0.55), the second used BMI (&ge, 0.55), with validity index of 74.7% and 80.5%, respectively. Conclusions: Early detection of MetS is possible through non-invasive methods in overweight and obese children. Two models (Clinical decision trees) based on anthropometric (non-invasive) variables with acceptable validity indexes have been presented. Clinical decision trees can be applied in different clinical and non-clinical settings, adapting to the tools available, being an economical and easy to measurement option. These methods reduce the use of blood tests to those patients who require confirmation.

Obesity is considered a chronic inflammatory disease with an important genetic component. Although several studies have reported an association between the FTO (fat-mass associated gene) and adiposity in children, there is limited evidence in the Chilean population.To deter mine the association between the polymorphism rs9939609 of the FTO gene and markers of adipo sity in Chilean children.Cross-sectional study which included 361 children aged between 6 and 11 years (50% were girls). Between March and June 2008, clinical data and blood sample collection was carried out. The rs9939609 single-nucleotide polymorphism (SNP) of the FTO gene, was determined using the genomic DNA extracted from leukocytes, using the QIAamp DNA Blood Mini Kit (Qiagen GmbH, Hilden, Germany).The adiposity markers included were body mass index (BMI), waist circumference (WC), body fat, and WC/H index; which were later compared adjusted by sex, age, and Tanner stage. Linear regression analyses were conducted to detect the association between the polymorphism and obesity markers.After adjusting the models by age, sex, and Tanner stage, we found a significant association between the polymorphism and markers of adiposity. For each extra copy of the risk allele, we found an increase of 2.47 kg body weight (95% CI: 1.39-3.55); 1.06 kg/m2 BMI (95% CI: 0.56-1.54); 2.55 cm WC, (95% CI: 1.26-3.85); and 1.98% body fat (95% CI: 0.78-3.19). When converting adiposity markers to z-score, we found that WC/height index shows the strongest association with the risk allele FTO.This study supports the association between the rs9939609 SNP of the FTO gene and overall and central adiposity markers in Chilean children.

Context: Biallelic mutations in NEUROG3 are known to cause early-onset malabsorptive diarrhea due to congenital anendocrinosis and diabetes mellitus at a variable age. No other endocrine disorders have been described so far. We report four patients with homozygous NEUROG3 mutations who presented with short stature and failed to show any signs of pubertal development. Case Description: Four patients (two males, two females) were diagnosed with homozygous mutations in NEUROG3 on the basis of congenital malabsorptive diarrhea and diabetes. All four had severe short stature and failed to develop secondary sexual characteristics at an appropriate age, despite some having normal body mass index. The absence of gonadal function persisted into the third decade in one patient. Upon testing, both basal and stimulated LH and FSH levels were low, with the remaining pituitary hormones within the normal range. Magnetic resonance imaging scans of the hypothalamic-pituitary axis did not reveal structural abnormalities. A diagnosis of hypogonadotropic hypogonadism was made, and replacement therapy with sex hormones was started. Conclusions: The high reproducibility of this novel phenotype suggests that central hypogonadism and short stature are common findings in patients with mutations in NEUROG3. Growth rate needs to be carefully monitored in these patients, who also should be routinely screened for hypogonadism when they reach the appropriate age. NEUROG3 mutations expand on the growing number of genetic causes of acquired hypogonadotropic hypogonadism., Patients with neurogenin 3 deficiency show congenital diarrhea and diabetes. We describe four patients who showed hypogonadotropic hypogonadism, short stature and diabetes due to mutations in NEUROG3

La obesidad es una enfermedad inflamatoria donde la genética determina cierto nivel de riesgo. Aun cuando existen estudios que reportan asociación entre polimorfismos de FTO (fat-mass associated gene) y adiposidad, existe limitada evidencia en población infantil chilena.Objetivo: determinar la asociación entre el polimorfismo rs9939609 del FTO y marcadores de adiposidad en población infantil chilena.Pacientes y Método: Estudio de corte transversal incluyó 361 participantes (de 6 a 11 años; 50% niñas). Los datos clínicos y la recolección de muestras de sangre se realizaron entre marzo y junio de 2008. El polimorfismo SNP (rs9939609), del gen FTO, se determinó utilizando ADN genómico extraído de leucocitos, utilizando el Mini Kit QIAamp DNA Blood (Qiagen GmbH, Hilden, Alemania). Los marcadores de adiposidad estudiados fueron, índice de masa corporal (IMC), masa grasa, perímetro de cintura (PC) y razón cintura/talla, y se compararon ajustados por sexo, edad y estadío de Tanner. La asociación entre el polimorfismo estudiado y los marcadores de obesidad se realizó mediante análisis de regresión lineal.Resultados: Al ajustar los marcadores por sexo, edad y estadío de Tanner se observó una asociación significativa entre el polimorfismo e indicadores de adiposidad. Por cada copia extra del alelo de riesgo se encontró un aumento de 2,47 kg de peso corporal, (IC 19 95%: 1,39 -3,55); 1,06 kg/m2 de IMC, (IC 95%: 0,56-1,54); 2,55 cm de PC, (IC 95%: 1,26-3,85) y en 1,98 % de masa grasa, (IC 95%: 0,78-3,19). Al convertir los marcadores de adiposidad a z-score, la razón perímetro de cintura/talla arrojó la mayor asociación con el alelo de riesgo de FTO.Conclusión: Este estudio indica asociación entre el polimorfismo rs9939609 del gen FTO con marcadores de adiposidad general y central en población infantil en Chile.

Background Several genetic polymorphisms of adiponectin have been associated to metabolic diseases as obesity and co-morbidities. Aim To investigate if there are associations between +45TG, +276GT, -11,377CG y -11,391GA adiponectin SNPs (single nucleotide polymorphism) with obesity in a Chilean children population. Material and methods A case-control study was performed in 241 obese and 126 normal weight children (7-11 years old) from the urban community of Hualpen, Biobio region. Children were classified as normal or obese, according to age and gender-specificpercentiles defined by Centerfor Disease Control and Prevention (CDC). The analysis of serum markers was carried out using commercial kits. Adiponectin polymorphisms were determined through a High Resolution Melting (HRM)-enabled real time PCR and by DNA fragment sequencing. Results The observed allelic frequencies of the studied SNPs were over 11%. The 11,377CG polymorphism was associated with a high risk of obesity, calculated by the additive inheritance model (odds ratio = 1.389, 95% confidence interval: 1.001-1.929,p = 0.049). Conclusions Obese school children of the Biobio Region, have an increased risk of carrying the susceptibility allele polymorphism 11377CG of adiponectin gene.

Bustos P, Saez K, Gleisner A, Ulloa N, Calvo C, Asenjo S. Metabolic syndrome in obese adolescents. Childhood and adolescent obesity is highly prevalent and a relevant public health problem in Chile. Metabolic syndrome (MS), which is predictive of future cardiovascular disease and type 2 diabetes, has been associated with childhood obesity and insulin resistance. The aim of this study was to determine the prevalence of MS in a non-consultant obese adolescent population and to assess the underlying factors for the MS in these subjects. The nutritional status was evaluated for 25,102 students from 10 to 18 years of age living in Concepcin and Coronel, Chile. A total of 2,308 adolescents were found to be obese (BMI ≥ 95 percentile). Metabolic syndrome was defined as the presence of at least three of the following abnormalities: waist circumference ≥ 90th percentile, blood pressure ≥ 90th percentile, fasting glycaemia ≥ 100 mg/dL, HDL-cholesterol ≤ 40 mg/dL and triglycerides ≥ 110 mg/dL in a representative sample of 461 adolescents. The results obtained indicate that the prevalence of obesity was 9.2% and that MS reached 37.5%. Only 4.1% of the adolescents failed to present any of the risk factors for MS. When compared with the adolescents without MS, the estimated odd ratios (OR) for the presence of the characteristics of MS were all statistically significant, with increased waist circumference reaching an OR of 21.56. A significant difference was found between adolescents with and without MS; the parameters indicated greater insulin resistance for adolescents with MS. In conclusion, MS is highly prevalent among Chilean adolescents with obesity and its prevention beginning in childhood needs to be addressed.

Background: Substance abuse in adolescents with diabetes mellitus (DM) is associated with the development of acute and chronic complications. Objective: To determine the prevalence of alcohol, tobacco, and illicit drug consumption in adolescents with DM and compare it with the prevalence in a large contemporary control (C) group. Methods: Adolescents with and without DM, who were attending 8th–12th grades, answered a structured written questionnaire, which evaluates the voluntary declaration of tobacco, alcohol, and illicit drug consumption. Subjects with DM were recruited from free diabetes camps or public hospitals (n = 193). The C group was obtained from a nationwide study of prevalence of substance abuse (n = 58 489). For illicit drugs (marijuana, cocaine, or cocaine sulfate), results are shown as life prevalence (ever used the substance). For alcohol and tobacco, results are shown as last month prevalence (the substance was used during the last month). Results: Adolescents with DM showed a lower last month prevalence of tobacco and alcohol consumption than C (27.7 vs. 39.0%, p

A rare case of type I diabetes is studied in an Amerindian (Mapuche) family from Chile, analyzing glutamic acid decarboxylase, islet-cell autoantibodies and human leukocyte antigen (HLA) genes. The affected sib is the only one that has one specific HLA haplotype combination that differs from the other sibs only in the HLA class I genes. It is concluded that HLA diabetes susceptibility factors may be placed outside the class II region or even that susceptibility factors do not exist in the HLA region in this Amerindian family.

Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process.To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors.A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot.The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family.There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.

Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50)

Background: Advanced glycation end products are associated with chronic complications of diabetes mellitus. This glycation process renders many proteins immunogenic. Aim: To detect the presence of antibodies against albumin, collagen and low density lipoprotein glycation products in boys and teenagers with diabetes mellitus. Patients and methods: Thirty one patients with diabetes mellitus type I, aged 11±3.8 years and with a mean duration of disease of 3.7±2.7 years and 31 healthy controls aged 12.4±5.3 years were studied. Antibodies against glycation end products were detected by ELISA and results were expressed as a ratio of the optical density of the glycated protein/optical density of the native protein. Results: Diabetic patients and healthy controls did not have antibodies against albumin glycation end products. Diabetics had higher levels of antibodies than controls for collagen glycation end products (2.6±0.4 and 1.8±0.2 respectively, p< 0.01) and low density lipoprotein glycation end products (3.07±0.92 and 2.2±0.72 respectively, p< 0.05). Conclusions: The biological role of these antibodies is not clear. They could be a depuration mechanism for glycation end products or contribute to chronic complications of diabetes mellitus (Rev Méd Chile 2001; 129: 141-48).

Antibodies Against Advanced Glycosylation End Products (AGE) in Children and Adolescents with Type 1 Diabetes Mellitus

Humoral Immune Response Against Low Density Lipoproteins in Insulin-Dependent Diabetes Mellitus

Urinary Growth Hormone Measurement Usefulness As A Screening Test for Growth Hormone Deficiency

Lipoprotein a (Lp(a)) is considered as a risk-indicator for cardiovascular disease (CKD), independent of known factors such as hypercholesterolemia, obesity, diabetes mellitus and hypertension. The aim of this study was to determine whether Lp(a) plasma concentrations in children with parents with CKD below 45 years of age is a useful risk indicator for this disease, and to establish the relationship with ethnic factors. 18 Caucasian children aged 4-15 years with parental CHD (Group A) were studied and compared with 71 Caucasians without parental CHD (group 3) and 44 Pehuenche children living in Alto Bio Bio (group C). Lp(a) was measured in serum by enzyme immunoassay using monoclonal antiapo(a) as antibody and polyclonal anti apoB peroxidase to avoid cross reaction with plasminogen. Lp(a) values higher than 30 mg/dl were considered risk indicators for CHD. In 15 children (83%) of group A, 59 (83%) of group B, and 42 (95%) of group C Lp(a) values were ≤ 30 mg/dl. None in group A, 3 (4.2%) in group B and 2 (4.5%) in group C had Lp(a) levels between 31-50 mg/dl. Three (16.6%) in group A, 9 (12.6%) in group B, and none in group C had Lp(a) levels > 50mg/dl. In group A the relative risk was 1.3 times higher compared with group B and 16.6 times higher compared with group C. When considering Lp(a) values of 31-50 mg/dl there are no relative risk differences between group A and B (RR:0.98) but there is relative risk difference in comparison with oroup C (RR:3.68). CONCLUSIONS: Lp(a) levels > 50 mg/dl pose a greater risk for CHD in Caucasian children with parental CHD compared with the general Caucasian population, and a much greater risk than in the Pehuenche population. Lp(a) levels between 31 and 50mg/dl pose a greater risk in Caucasians only when compared to the Pehuenche population. These results support the hypothesis that Lp(a) may be influenced by ethnic factors.

We determine the prevalence of obesity among school children aged 6 to 14 years attending Municipal schools + private state subsidized schools (M+PSS) and private school (P) in urban Concepcion. Conditioning obesity factors were analysed. 2302 school children were randomly selected by conglomerate. Obesity was diagnosed by the ratio Weight / height > 120% (NCHS reference data). Obesity among parents and relatives was assessed by means of a questionnaire. Data analysed by SAS sta package. Test X2 of independence and homogeinity. Overall prevalence in school children sampled: 21%. No differences between sexes. 12% Obesity at 14 years of age in males and 23.4% in females. (p

RESUMEN Se analizan 22 nifios portadores de HTC, cuyodiagnostico se formula sobre bases clfnicas y seconfirma posteriormente por examenes de labo-ratorio. El 95% de los nifios presenta alteracioncsneurologicas de intensidad variable, el 91% tieneun CI inferior al normal y el 59% de ellosnecesita educacion especial. REFERENCIAS1. Price, D,, Ehrlich, R. and Wolfish, P.: Congenitalhypothyroidism. Clinical and laboratory characte-ristics in infants detected by neonatal screening.Arch. Dis. Child. 56: 845, 1981.2. Rochiccioli, P., Dutau, G.: Le depestage neonatal deThypothyroidie. Arch. Franc. Pediat. 36: 7, 1979.3. Jacobsen, B., Brandt, A'.: Congenital hypothyroi-dism inDennmark. Arch. Dis. Child. 56: 134, 1981.4. Larsson, A., Ljunggren, J.G., Ekman, K.,, Nilsson,A., Olin, P.: Screening for congenital hypothy-roidism. Acta Paediatr. Scand. 70: 141, 1981.5. Virtanen, M., Maenpaa, J., Santavuori, P., Hirvonen,E., Perheentupa, J.: Congenital Hypothyroidism:Age at start of treatment versus outcome. ActaPaediati. Scand. 72: 197, 1983.6. New England Congenital Hypothyroidism Collabo-rative. Effects of neonatal screening for hypothy-roidism: Prevention of mental retardation bytreatment before clinical manifestations. Lancet 2

RESUMEN La concentracion de Mg en el plasma de22 lactantes sanos fue en promedio de 23,90± 1,63 mg x 1, similar a la de otras publica-ciones. En 20 lactantes con diarrea aguda ydeshidratacion con o sin acidosis, las concen-traciones plasmaticas fueron leve pero signifi-cativamente elevadas con respecto a los con-troles sanos, promedio 26,75 ± 3,49 mg x 1. REFERENCIAS1. Caddell, J.L.: Magnesium in the Nutrition ofthe Child. Clin. Pediatr. 13: 263, 1974.2. Watson, W.S., Hilditch, T.E., Morton, P.W., Davies, D.L., and Lindsay R.: Magnesium Me-tabolism in Blood and the Whole Body in Manusing Mg 28. Metabolism, 28: 90, 1979.3. Burch, G.E., Giles, T.D.: The importance ofMagnesium Deficiency in Cardiovascular Disease.Am. Heart. J. 94: 649, 1977.4. Wacker, W. and Parisi, A.: Magnesium Me-tabolism. New Engl. J. Med. 278: 658, 1968.5. Whang R., Oei T., Aikawa /., Ryan M., Wa-tanabe A., Chrysant S., Fryer A.: Magnesiumand Potassium Interrelationships Experimentaland Clinical. Acta. Med. Scand. Suppl. 647