ESPE Abstracts

Background: Human milk is considered the most advantageous source of nourishment for infants. Although there is a growing body of evidence showing that human milk feeding fosters early neurodevelopment, the underlying process is still not completely known. Indeed, clinical and animal research has linked human milk to enhanced myelination in the infant's central nervous system, however, access to human oligodendrocytes and neurons in the early stages of develop...

Introduction: Silver-Russell syndrome 5 (SRS5) is characterized by asymmetric intrauterine growth restriction (IUGR), poor postnatal growth, macrocephaly at birth and feeding difficulties. Other possible features include triangular shaped face, prominent forehead, hypertelorism, epicanthus, micrognathia, brachydactyly, clinodactyly of the 5th hand finger, and syndactyly of the 2nd and 3rd toe fingers. Pathogenic variants of the HMGA2 gene, on chromoso...

Keywords: Primary adrenal insufficiency, X-linked adrenoleukodystrophy, early manifestationBackground: The primary adrenal insufficiency (PAI) in patients with X-linked adrenoleukodystrophy (X-ALD) is known to develop commonly after three years of life and there are little cases with an early manifestation described. Here we report cases of early PAI manifestation in X-ALD patients.Clinical...

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...

Introduction: Familial Mediterranean Fever (FMF) is an inherited auto-inflammatory disorder still extremely underdiagnosed in the Mediterranean area. The disease is secondary to a gain of function mutation of the MEFV gene, classically defined as “autosomal recessive”, with possible symptoms also in heterozygous patients. The mutation induces a hyperexpression of IL-1 beta and a chronic inflammation. Clinical manifestations are characterized by rec...

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...

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by insulin-producing pancreatic β-cells loss. Apo1/Fas, a glycosylated surface protein, is implicated in maintaining homeostasis of the immune system. Cytokeratin-18 (cCK-18) is a predictive marker of liver disorders in T2DM. Intercellular adhesion molecule-1 (ICAM-1) is considered a candidate gene for susceptibility to diabetes mellitus. Aim: To investigate the possible role of Apo1/Fas, cCK-...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Introduction: PGD is characterized by hyperthyroidism and antibodies against the TSH receptor (TSHRAB). Reported annual incidence is 4,58/100,000.Objective: To describe an Argentinean cohort with PGD followed between 2006 and 2020 at the Ricardo Gutierrez Children’s Hospital.Material and Methods: Retrospective study of 69 patients, who were treated initially with antithyroid ...

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...