ESPE Abstracts

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Background: Congenital proopiomelanocortin deficiency (POMC) gene mutations cause early-onset obesity, hyperphagia and ACTH deficiency. In the subjects with this picture, neuropsychiatric (NP) features were rarely reported. Many Authors described an appetite loss during the topiramate treatment.Objective and hypotheses: To discuss NP features observed in a POMC deficient patient and to propose a therapeutic attempt to reduce the hyperphagia.<p class=...

Introduction: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in boys with central precocious puberty (CPP). In contrast to girls, in whom more than 90% of cases are idiopathic, it has been reported that 4 up to 75% of boys with CPP have pathological brain lesions.Aim: to evaluate the prevalence of brain lesions in males with isolated CPP and to identify potential clinical and bioc...

Background: Some studies suggested a correlation between vitamin D (VD) and the GH-IGF1 but few studies, and with controversial results, have prospectively analysed the vitamin D status in children before and after GH treatment.Objective and hypothesis: To assess VD status in pre-pubertal children with idiopathic GH deficiency (GHD); and to evaluate effect of GHD and GH treatment on VD levels.Methods: 50 pre-pubertal children with ...

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...

Background: The relationship between 25 hydroxy cholecalciferol (25OHD) deficiency and autoimmune diseases including type I diabetes (T1D) is an ongoing area of research interest. Furthermore, vitamin D seems to affect β cells through calcium regulation, as insulin release is a calcium-dependent process. The aim of the study was to screen for (25OHD) deficiency in children with clinical onset of T1D and study the correlation between its serum levels an...

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

Background: Vitamin D may have cardio-protective properties due to its biological actions. In children, observational studies linking actual vitamin D level and blood pressure have yielded conflicting results. Whether early life vitamin D exposure may elicit a programming effect on later systolic blood pressure (SBP) and diastolic blood pressure (DBP) needs further investigation.Objective and hypotheses: We investigated whether higher levels of cord 25-h...