ESPE Abstracts

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...

Background: In a population of a community-based setting (BMISDS range −3.5 to +4.1), there is a negative linear correlation between childhood BMISDS and pubertal height gain, together with earlier onset of pubertal growth with higher BMISDS for both sexes (1).Objective: To investigate the impact of BMI in childhood on the pubertal pattern of growth for obese children in a clinical setting.Met...

Insulin-like growth factor (IGF) 2 plays a fundamental role in prenatal growth and development. The IGF2 gene is imprinted, with the paternally inherited copy being active and the maternal copy being silenced in most tissues. During development, the expression of IGF2 is sexually dimorphic in some tissues and this is thought to be involved in the development of some sexually dimorphic features. For example, IGF2 expression is reported to be higher in the male brain co...

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

Background: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

Introduction: Maternal deprivation (MD) during neonatal life has diverse long-term effects, including modification of metabolism. Some of these effects are sexually dimorphic. We have previously reported that MD in rats blocks the physiological neonatal leptin surge, which could underlie the long-term metabolic changes.Hypothesis: We hypothesized that replacement of leptin during MD would normalize long-term endocrine changes.Metho...

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...

Background: Intrauterine growth influences the risk of childhood obesity and its associated metabolic derangement.Objective and hypotheses: To investigate the effect of intrauterine growth (as shown by newborn anthropometry) on physical and metabolic features in obese children and adolescents.Method: A retrospective study of 1049 obese children and adolescents (46.8% females/53.2% males; age: 10.31±3.23 years; BMI: +4.00±...

Background: Despite the lack of drugs, conservative management of childhood obesity allows for considerable weight reduction.Objective and hypotheses: i) To evaluate anthropometric and metabolic changes in obese children after intense weight loss. ii) To analyze the influence of the amount of weight loss and the time spent to attain it on the observed changes. iii) To investigate BMI evolution during the first 3 years after weight reduction.<p class=...

Background: The central melanocortin system is highly involved in the control of energy metabolism, receiving and integrating numerous metabolic signals, such as leptin, and biallelic mutations in several genes of the pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of this satiety pathway contribute to the development of obesity is poorly explored.Objec...