ESPE Abstracts

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

Background: The SARS-CoV-2 pandemic has forced the authorities to impose a lockdown to minimize the risk of infection. This extreme and prolonged situation has caused changes in habits, dietary and glycemic control in children with type 1 diabetes (T1D). Continuous glucose monitoring (CGM) and Flash glucose monitoring (FGM) have allowed health care professionals to a remote control of the patients.Aim: The aim of the stu...

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

Introduction: Noonan Syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK pathway. The clinical phenotype is variable; however, short stature is present in more than 80% of cases. Several clinical trials have been conducted over the last decades using recombinant growth hormone (rhGH) in NS to treat short stature demonstrating efficacy and safety which lead to the European Medicines Agency (EMA) approval in 2020.<stron...

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...

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

Backgroud: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...