ESPE Abstracts

Background: Despite neonatal screening, children with congenital hypothyroidism (CH) may still display behavioural problems such as inattention, distractibility, hyperactivity and restlessness.Objective and hypotheses: The aim of present study was to evaluate attention and sluggish cognitive tempo (SCT) symptoms in 32 children with CH compared to 32 matched healthy controls.Method: The study population consisted of 32 CH children a...

Background: Ectopic ACTH-producing tumors rarely occur in children, with <1% of all adolescents with Cushing Syndrome (CS). Many cases of ACTH-secreting ectopic neuroendocrine tumors (NETs) are reported in literature. In most patients, tumors secrete corticotropin-like peptides and/or corticotropin releasing factor (CRF)-like peptide, which stimulate cortisol hyperproduction.Background: Ectopic ACTH-producing tumors r...

Background: An increased incidence of Type 1 diabetes has been observed worldwide over the past 30 years. Obesity is a well-documented risk factor for Type 2 diabetes (T2D), but poor studies have postulated an association between the obesity and overweight and the rate of T1D in these age groups. This is known as Accelerator Hypothesis. In addition, a further effect seems to be exerted COVID-19 pandemic which is related to raised rate of T1D onset and obesity....

Background: Vitamin D-induced hypercalcemia can result from exogenous vitamin D intoxication, excessive endogenous production or mutations in enzymes involved in vitamin D metabolism.Case Report: We describe an 8-month-old infant referred to the emergency department with history of failure to thrive and weight loss over the past two months. He was consuming type 2 formula milk supplemented with vitamin D plus vitamin D a...

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

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...

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...

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 ...

Background: Type 1 diabetes (T1D) is a chronic disease characterized by autoimmune destruction of pancreatic beta-cells. Dysregulated miRNA levels have been described in T1D patients, though results are inconclusive.Objective and Hypotheses: The aim of this study was to assess the circulating profile of different miRNAs in children at diagnosis of T1D.Method: 27 children with T1D o...