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...

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

CHOPS syndrome is a rare monogenic disorder caused by heterozygous gain-of-function variants in AFF4. The 13 patients reported to date share a highly recognizable phenotype: Coarse face, Cognitive impairment, Heart defects, Obesity, Pulmonary involvement, Short stature and Skeletal dysplasia. AFF4 encodes a scaffold protein involved in transcriptional elongation and critical for gene expression regulation during embryogenesis. Notably, it appears to regulate adipogenic differe...

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...