ESPE Abstracts

Objectives: Previous studies have described impaired growth in HIV-infected children. Many of them showed weight and height improve after ART initiation Most series include children from resource limited settings in which malnutrition is frequent and treatment is not fully available. We aim to characterize long-term growth in a cohort of HIV-infected children after ART initiation and to identify determinant factors.Methods</stron...

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

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.<...

Maternal nutrition can have significant long-term consequences on energy homeostasis in the offspring. However, whether resveratrol, with antioxidant and anti-obesity actions, can improve the impact of poor maternal nutrition on offspring metabolism remains largely unknown. We hypothesized that resveratrol intake by dams would protect the offspring against the harmful effects of a maternal high fat diet (HFD). We also determined if resveratrol’s effects are diet and sex d...

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...

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

Background: Neonatal over-nutrition (NON) can increase the propensity to become overweight and develop associated metabolic disturbances in later life. Moreover, some of these long-term effects are sexually dimorphic.Objective and hypotheses: We aimed to determine how NON affects body weight (BW), body composition and triglyceride (TG) and non-esterified fatty acids (NEFA) levels. We hypothesized that the effects would be both age and sex dependant.<...

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving children’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...