ESPE Abstracts

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family that regulates gene expression. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. Recently, SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange syndromes. Pathogenic variants of SETD5 gene are primarily associated with intellectual delay ...

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....

Background: FGF21 is a hormonal factor with powerful anti-diabetic and anti-obesity properties in adults\. Studies in rodent models indicated that hepatic FGF21 expression and blood FGF21 levels are strongly induced after birth in response to fat provided by milk ingestion. Moreover, preliminary data indicate that FGF21 is present in maternal milk.Objective and hypotheses: Our objective is to determine, using human samples and pre-clinical experimental m...

Background: The endocrine role of white adipose tissue (WAT), as a site of release of the so-called adipokines, has been recognized for long. Brown adipose tissue (BAT) is the main site of adaptive thermogenesis in mammals, especially relevant in neonates and early infancy. The amount and activity of BAT are associated with a healthy metabolic profile and protection against obesity, type II diabetes and hyperlipidemia. This biological role of BAT is traditionally attributed to...

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

Background: Hyperglycaemic hyperosmolar state (HHS) is a life-threatening condition rarely seen in paediatrics. It is however becoming increasingly recognised with the growing incidence of childhood type 2 diabetes mellitus (T2DM).Objective and hypotheses: We present a child with Bardet–Biedel syndrome (BBS), with new-onset T2DM presenting in HHS, and discuss the dilemmas encountered in his management due to multiple co-morbidities, including renal ...

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...