ESPE Abstracts

Introduction: Obese children with normal glucose tolerance (NGT) but with 1-hour post-load plasma glucose (1hPG) ≥ 132.5 mg/dl are at higher risk of developing type 2 diabetes (T2D) and cardiometabolic complications. In addition, new markers of systemic inflammation derived from blood cell count could be used as indicators of insulin resistance, thus predicting worse metabolic profile.Objective: The aim of our study w...

Introduction: 21-Hydroxylase deficiency (21-OHD) is the archetype of congenital adrenal hyperplasia (CAH). Deficiency of 21-Hydroxylase results in an impairment of cortisol synthesis, which is critical in stressful conditions when higher output is required to restore homeostasis. In addition, an increased androgen production, might results in undesirable manifestations of hyperandrogenism, as menstrual abnormalities, infertility and cosmetic annoyances and gro...

Background: COVID-19 restriction measurements have determined profound alterations in glucose and insulin metabolism in children with overweight and obesity. However, to date few data have explored the effects of the relaxation of restrictions in the pediatric population. Thus, we compared anthropometric and OGTT data in children with overweight and obesity during the two years after (2021-2023) compared to the two years during (2020-2021) and before (2018-201...

Background and aims: The development of insulin resistance (IR) may be influenced by inflammation in overweight/obese individuals. To identify indicators of IR, new markers of inflammation and systemic inflammation such as leukocyte (WBC) and platelet counts (PLT), the neutrophil-to-lymphocyte ratio (NLR) have been suggested. This study aims to investigate the association between these markers and IR in a group of overweight and obese.<s...

Background: Multiple endocrine neoplasia type 2B is a rare genetic syndrome caused by germline mutations in the RET proto-oncogene. Approximately 75% of MEN2B cases are sporadic and caused by de novo RET mutations, whereas 25% of cases occurs in families with an autosomal dominant inheritance. The most common RET mutation found in 95% of MEN2B patients is the substitution of the amino-acid threonine for methionine at codon 918. In infants with de novo mutation...

Early identification of monogenic obesity, a rare condition, is quite challenging for pediatricians. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and it is found to play an important role in leptin and insulin signaling. In humans a rare deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene, is associated with a highly penetrant form of isolated severe earl...

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...