ESPE Abstracts

Background and Aim: Congenital hypothyroidism (CH) is a well-known condition. Nevertheless, recent questions in clinical practice, especially in neonatal intensive care setting, prompted us to review the natural history of CH in our cohort.Methods: This is a retrospective, observational study collecting anamnestic, anthropometric (height SDS, BMI SDS), diagnostic (TSH, fT4, thyroid ultrasound) and therapeutic data (dose ...

Objective: Transsphenoidal surgery (TSS) is a treatment of choice for Cushing`s disease (CD), whose effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations.Aim: Analysis of remission and recurrence rates of CD after radical treatment according to preoperative MRI....

Myokines - biologically active proteins produces and secretes by skeletal muscles in response to physical activity (PA). They play a role in lipid and glucose metabolism, myogenesis and osteogenesis, thermogenesis activity. Exercise-induced expression of myokines in adolescents with simple obesity insufficiently studied.Objective: to determine which intensity and duration of PA maximally changes the level of myokines (interleukin-6 (IL-6...

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p class="ab...

Background and Objective: Diabetic ketoacidosis (DKA) is an acute endocrinological emergency in childhood. It occurs in 20-40% of cases at the onset of Type 1 Diabetes (T1D). DKA is classified as mild, moderate, and severe based on the clinical picture and blood pH levels. This study aims to evaluate the relationship between the characteristics of T1D onset (DKA level, pH, c-peptide) and the glycometabolic control 2, 5, and 10 years after the diagnosis.<p ...