Prevalence of insulin resistance and impaired glucose tolerance in a sample of obese Spanish children and adolescents.

The prevalence of obesity in children has increased in developed countries in the last decades. It is associated with alterations in glucose metabolism that may be present in childhood. To assess the frequency of glucose metabolism alterations and insulin resistance and their possible determinants in a sample of obese children from Valladolid (Spain), we retrospectively studied 100 obese children and adolescents (11.59 ± 2.73 years). Anthropometric measures, biochemical parameters, and oral glucose tolerance test (OGTT) were performed. Insulin resistance was evaluated with fasting insulin, HOMA index, and insulin values in OGTT. Impaired glucose tolerance was found in 15% of the sample, and was the most frequent of glucose metabolism alterations. Impaired fasting glucose was found in 2%. No case of type 2 diabetes was found. Acanthosis nigricans was present in 22%, with predominance in females, but not all presented insulin resistance. The prevalence of insulin resistance was 29% when HOMA index was used, and 50% when the insulin response in OGTT was used. Not all patients with impaired glucose tolerance had a pathological HOMA index, and not all with pathological HOMA index presented insulin resistance when insulin values in OGTT were used. Higher 2-h post-OGTT insulin levels were found in children with impaired glucose tolerance. It is paramount to identify young people with glucose regulation alterations for early, intensive intervention to prevent or at least postpone the onset of type 2 diabetes. OGTT is a screening tool necessary to fulfill this objective.

Klinefelter syndrome and short stature: an unusual combination.

Klinefelter syndrome is not easy to diagnose in childhood because of the absence of significant manifestations before puberty. Three main clinical signs should suggest the diagnosis in a child: small testes, tall stature, and mental retardation or learning problems. We present a patient with Klinefelter syndrome and short stature due to growth hormone deficiency. His height was below the third percentile for age and his bone age delayed. Maximal serum GH levels after insulin-induced hypoglycemia and clonidine were low, demonstrating GH deficiency. He received growth hormone treatment with good response. The diagnosis of Klinefelter syndrome was made at puberty, because the patient did not present a normal progression of testicular development and puberty. At that moment, a karyotype was made confirming the suspected diagnosis. We wish to emphasize the rare association between Klinefelter syndrome and growth hormone deficiency.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Gasto energetic y obesidad / Energy output and obesity

Se efectúa un trabajo de revisión sobre el gasto energético, sus componentes y métodos de valoración del mismo, centrado en la aplicación de todos estos conceptos sobre la obesidad infantil y la juvenil. La parte teórica inicial del trabajo está orientada a la comprensión adecuada del estudio efectuado en una población de 70 niños y adolescentes obesos que se describe en una segunda parte. El gasto calórico en reposo (GER) fue determinado por calorimetría indirecta y por las ecuaciones clásicas de estimación del gasto, generando el dato del gasto energético total (GET), tras determinar el factor de actividad física (FA). Se analizan de forma combinada los datos relativos a la ingesta calórica, mediante encuesta de tres días no consecutivos incluyendo un festivo y los datos del cociente respiratorio (CI) y la oxidación de sustratos (AU)

We present and energy expenditure review, its components and mechanism of evaluation focused on infantile and juvenile obesity. The initial theorical part is oriented to the correct comprehension of the study made in an population of obese children and adolescents (range 8-18 years) that we describe in the second part. Initial nutritional assessment included anthropometrics and bioimpedance. The resting energy expenditure (REE) was measured by indirect calorimetry and by the classics equations’ for the estimation of energy expenditure, giving rise to the total energy expenditure value (TEE) taking into account the physical activity (PA). We perform a multivariate analysis of the caloric intake estimated by, a three non consecutive day including a holiday, intake surveys the respiratory quotient (RQ) and the substrate oxidation (AU)

Síndromes poliglandulares autoinmunes / Polyglandular autounnybe syndrome

Los síndromes poliglandulares autoinmunes (SPA) agrupan enfermedades endocrinas y no endocrinas en un mismo paciente. Existen 4 tipos SPA (SPA 1, SPA 2, SPA 3 y SPA4), netamente diferenciados en orden a su frecuencia, edad de aparición, herencia, asociación con los genes del sistema HLA y agrupación de las enfermedades que los constituyen El síndrome IPEX asocia un fallo inmunitario con una poliendocrinopatía y una enteropatía de carácter autoinmune. Se comentan las características diferenciales, los hallazgos inmunogenéticos respectivos y se aboga por la necesidad de organizar estudios multicéntricos y protocolos de seguimiento en los pacientes sus familiares (AU)

The term Autoimmune Polyglandular Syndromes includes endocrine and not endocrine diseases which occurs in the same patient. There are four types of APS (APS 1, APS 2, APS 3 and APS 4) clearly differentiated by its frequency, age of presentation, association to HLA genes and the diseases included in each type. The syndrome IPEX includes immune dysregulation, autoimmune enteropathy and polyendocrinopaty autoimmune. Differential characteristics and inmunogenetic findings are discussed and, based on the recent advances, we support the need of organizing multicentric studies and protocols for the follow-up of patients and relatives (AU)

[Study of the growth and final body height in a young adult population]. / Estudio del crecimiento final en una población de adultos jóvenes.

To know the final height of young adults in our environment, we obtained a control group with 340 students of medical and professional training and compared them with the patterns of Hernandez et al. Medium values of weight, height, weight/height rate, and tricipital and subscapular skinfolds are similar in both groups. If we separate them by birth year (1965-1966 and 1970-71), we find significant differences, on behalf of the younger group, in women for weight and weight/height rate (p < 0.05), and in both sexes for skinfolds (p < 0.001). If we separate them by oriing (medicine-professional training), we find significant differences, on behalf of male university students in weight and weight/height rate (p < 0.05) and of female professional students in skinfolds (p < 0.001). We verify the suitability of the tables of Hernandez et al. for the final growth of young people around us and justify their use in the daily practise.

[Hypothyroidism caused by isolated TSH deficiency]. / Hypothyroïdie par déficit isolé en T.S.H.

Hypothyroidism secondary to isolated thyrotropin (TSH) deficiency was confirmed by low TSH levels during TRF test. Other anterior pituitary hormones were normal. Replacement therapy with thyroxine improved the child's growth but not the intellectual ability. The diagnostic difficulties and the importance of early treatment are emphasised.

[Secondary carbohydrate intolerance. Evolutive follow-up (author's transl)]. / Intolerancia secundaria a hidratos de carbono. Control evolutivo.

This study reports 70 children suffering from malabsorption and/or carbohydrate intolerance followed for at least twelve months. Mono and dysaccharide overload curves are considered as very valuable tests together with the clinical signs. These must be carefully observed during the tests and after supression of the malabsorbed sugar. Reliability of the overload tests in the follow-up is pointed out. Variations in the normalization time of the curves for each carbohydrate are determined. Finally 90 min. is considered as an advisable end-point for overload tests.

[Growth rate and bone maturation in celiac disease (author's transl)]. / Evolución del crecimiento somático y maduración ósea en la enfermedad celíaca.

The growth and bone maturation of 43 celiac patients were analyzed. A significant correlation between gluten intake and growth rate was found. The authors suggest this is a good parameter to advise the best moment to make the control biopsie and the provocation test.