ESPE Abstracts

Introduction: Thyroid hormones (THs) play a crucial role in growth, brain development and function and metabolic homeostasis. The sensitivity to TH indices seems to be associated with metabolic syndrome (MS), prediabetes and diabetes in adults. We evaluated the sensitivity to TH indices in a pediatric population with neuromotor disability in relationship with the MS presence, using a multivariate analysis (MVA).Patients and Metho...

Objectives: Increased central and peripheral sensitivity to thyroid hormones seems to be associated with an increased risk of developing prediabetes in adulthood. The objective of this study was to evaluate the relationship between the severity of obesity, the presence of glyco-metabolic alterations, and tissue sensitivity to thyroid hormones in prepubertal euthyroid children with simple obesity.Methods: Eighty prepubert...

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

DCCR is a once daily tablet formulation of the choline salt of diazoxide, a KATP channel agonist. DCCR is being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS), the most common genetic cause of life-threatening obesity. In a phase 2 study, DCCR treatment resulted in significant reductions of hyperphagia and aggressive behaviors. Diazoxide increases glucose by decreasing beta-cell insulin secretion in hyperinsulinemic conditions. However, ot...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

X-linked hypophosphatemic rickets (XLH) is the most common form of hereditary rickets. It is caused by inactivating mutations in the PHEX gene (phosphate-regulating-endopeptidase-analog, X-linked), leading to increased fibroblastic growth (FGF-23) levels, responsible for the renal phosphate wasting. This results in hyperphosphaturia and hypophosphatemia, and altered bone mineralization, in the absence of vitamin D deficiency. Classical treatment consists on oral supplementatio...

Background: Childhood NT1 has been associated with endocrine disorders like obesity and precocious puberty. These comorbidities may challenge the diagnosis, require tailored treatments and call for a multidisciplinary approach.Objective and hypotheses: To evaluate the impact of type 1 narcolepsy (NT1) on anthropometric and endocrine features in childhood/adolescence, focusing on weight, pubertal development and growth, and their follow up in treated and ...

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...

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

Background: There is an emerging evidence that the ovary may be an important site where genes such as LIN28b, whose polymorphisms has been strongly associated to age at menarche, could modulate the timing of puberty. Recent data suggest that the endocannabinoid system plays a role in folliculogenesis and ovulation, through cannabinoid receptor 2 (CB2) expressed in the ovary. On the other hand childhood obesity is associated with increased likelihood of early menarche,...