ESPE Abstracts

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...

Background: Metformin is a well-known biguanide approved for treatment of Type2 Diabetes. Metformin is not considered as an anti-obesity drug despite its common off-label use. Currently, there are no data regarding the profile of metformin related gastrointestinal side effects (MRGSE) in obese adolescents.Aim: To identify the frequency and time course of MRGSE in obese adolescents and assess the presence of any associati...

Background: Congenital Hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in the neonatal and infant period. It is most commonly caused by mutations in one of the KATP channel subunits, either SUR1 encoded by the gene ABCC8 or Kir6.2 encoded by the gene KCNJ11. Patients carrying mutations in the ABCC8 and KCNJ11 genes simultaneously have not been reported yet.Objective and hypotheses: Our aim was to describe the clinical pheno...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...

Introduction: The role of gamma-glutamyl transferase (GGT) enzyme as a marker of insulin resistance (IR) in pediatric obesity is well known. Recent evidence, mainly in the adult population, has identified GGT/High-Density Lipoprotein (HDL) ratio as a risk index for hepatic steatosis. The study has the purpose of examining the relationship between GGT, GGT/HDL ratio and the clinical/laboratory data of a group of obese Italian children living in the province of ...

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...

Introduction: Congenital central hypothyroidism (CCH) is a rare disease with inappropriate thyroid hormone secretion due to impaired TSH stimulation. TSH levels are not elevated; the patients are not diagnosed in TSH-based newborn screening. Biallelic variants in TRHR gene (encoding TRH receptor) are one of four genetic defects known to cause isolated CCH (THRH, THSB, IGSF1, TBL1X). The phenotype is variable but generally mild (neon...

Background: Congenital Hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. To assess the pathogenic effect of novel ABCC8 mutations we performed in-vitro functional studies.Objective and hy...