Cardiovascular Risk Factors in Children and Adolescents With Obesity: Sex-Related Differences and Effect of Puberty.

To evaluate the effect of gender and puberty on cardiovascular risk factors (CVRF) in obese children and adolescents. One thousand four hundred and nine obese patients [age 9.7 (2.

Cut-off limits of the peak GH response to stimulation tests for the diagnosis of GH deficiency in children and adolescents: study in patients with organic GHD.

Objective: The diagnosis of GH deficiency (GHD) in children and adolescents is established when GH concentrations fail to reach an arbitrary cut-off level after at least two provocative tests. The objective of the study was to define the optimal GH cut-offs to provocative tests in children and adolescents.

Design: Retrospective study in 372 subjects who underwent evaluation of GH secretion.

The role of FTO genotype on eating behavior in obese Sardinian children and adolescents.

Aim: We aimed to study the influence of the fat mass and obesity-associated (FTO) gene on eating behavior in 412 obese Sardinian children and adolescents. Genome-wide association studies (GWAS) have identified several susceptibility loci for obesity. Among these, the polymorphisms in the intron 1 of the FTO gene has been found associated to weight gain and obesity in various populations.

The COBLL1 C allele is associated with lower serum insulin levels and lower insulin resistance in overweight and obese children.

Background: Childhood obesity is a growing epidemic worldwide, and it is associated with metabolic complications, such as insulin resistance. Recently, a genetic variation (rs7607980) in the COBLL1 gene has been associated with lower insulin resistance in adults. The aim of the study was to investigate if the association between COBLL1 rs7607980 genetic variant and lower insulin resistance was present early in life.

rs9939609 in the FTO gene is associated with obesity but not with several biochemical parameters in Sardinian obese children.

Several studies have reported an association of the intronic single nucleotide polymorphism (SNP) rs9939609 of the fat mass and obesity-associated (FTO) gene with obesity and with a number of obesity-related features. We studied the association of rs9939609 with obesity in 912 obese children and adolescents (426 males and 486 females, mean ± SD age 10.5 ± 3.

Effect of body mass index on the growth hormone response to clonidine stimulation testing in children with short stature.

Objectives: An inverse relationship has been shown between body mass index (BMI) and the peak growth hormone (GH) response to stimulation in adults and in children with short stature. This relation is observed even within a normal range of BMI. The aim of this study was to investigate the effect of BMI on the GH response to clonidine in a large number of children with short stature.

An INSIG2 polymorphism affects glucose homeostasis in Sardinian obese children and adolescents.

Allelic variants of a single nucleotide polymorphism (SNP), rs7566605, located approximately 10 kb upstream of the INSIG2 gene have been found in association with body weight and with other clinical features related to obesity in some populations but not in others. Our objective was to test the association of this SNP in obese children and adolescents from the genetically isolated population of Sardinia. We tested the association of rs7566605 with body mass index (BMI) and with serum glucose and insulin concentrations and a surrogate measure of insulin resistance (HOMA-IR) in a cohort of 747 Sardinian obese children and adolescents.

The 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life.

Background & Aims: Childhood obesity is a growing problem worldwide. Non-alcoholic fatty liver disease (NAFLD) is frequently associated with obesity in children. Recently, the PNPLA3 gene I148M (rs738409) variant was demonstrated to be strongly associated with hepatic steatosis in obese adults.

Thyroid function in obese children and adolescents.

Objective: Obesity is frequently associated with modifications of thyroid size and function. We evaluated the prevalence of thyroid function abnormalities and the effects of puberty and weight loss in obese children and adolescents.

Methods: We examined 468 obese children (255 girls and 213 boys aged 3.

Prevalence of type 1 diabetes autoantibodies (GADA, IA2, and IAA) in overweight and obese children.

Objective: Little is known about the prevalence of beta-cell autoantibodies in children with excess body weight. The prevalence of type 1 diabetes autoantibodies and its relation with hyperglycemia was analyzed in 686 overweight/obese children and adolescents.

Research Design And Methods: All children underwent an oral glucose tolerance test, and anti-GAD, anti-IA2, and anti-IAA autoantibodies were measured.

Characterization of thyroglobulin epitopes in Sardinian adults and juveniles with Hashimoto's thyroiditis: evidence against a major effect of age and genetic background on B-cell epitopes.

Background: Using recombinant human monoclonal thyroglobulin antibodies expressed as Fab molecules (TgAb-Fab), we have recently confirmed the restriction of Tg epitopes in Hashimoto's thyroiditis (HT).

Objective: To investigate Tg epitopes of serum TgAb in HT adults and HT juveniles from a geographically isolated area (Sardinia).

Design And Patients: Serum TgAb of 39 Sardinian HT adults, 53 Sardinian HT juveniles and 45 non-Sardinian HT adults were evaluated.

Puberty is associated with a marked increase of the female sex predominance in chronic autoimmune thyroiditis.

Background: Chronic autoimmune thyroiditis (CAT) displays a strong female predominance with female-to-male (F:M) ratios of 4-20:1 in adults and 2-9:1 in children and adolescents. Both genetic and hormonal factors are involved in this phenomenon. The relation between puberty and F:M ratio in CAT has never been evaluated.

Oral glucose tolerance test in Italian overweight/obese children and adolescents results in a very high prevalence of impaired fasting glycaemia, but not of diabetes.

Background: Very few studies on glucose abnormalities in European overweight/obese children and adolescents are available, and scientific evidence on the value of standard oral glucose tolerance test (OGTT) in childhood is lacking. We therefore aimed to establish prevalence and features of impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes (T2D) in a large cohort of Italian overweight/obese children and adolescents and to assess the validity of standard OGTT in the paediatric population.

Methods: This is a 1-year observational study conducted on 736 (535 overweight/obese and 201 normal weight) consecutive paediatric patients attending the outpatient clinic of Paediatric Endocrine Unit.

IRAK-M is involved in the pathogenesis of early-onset persistent asthma.

Asthma is a multifactorial disease influenced by genetic and environmental factors. In the past decade, several loci and >100 genes have been found to be associated with the disease in at least one population. Among these loci, region 12q13-24 has been implicated in asthma etiology in multiple populations, suggesting that it harbors one or more asthma susceptibility genes.

Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies.

Context: It has been reported that patients with multiple pituitary hormone deficiencies (MPHDs) achieve a greater final height, compared with patients with isolated GH deficiency (IGHD). However, the outcome of patients with permanent GH deficiency (GHD) has not yet been reported.

Objectives: The objectives of the study were to evaluate and compare adult height data and the effect of spontaneous or induced puberty after long-term treatment with GH in young adults with either permanent IGHD or MPHD.