ESPE Abstracts

Background: In type 1 diabetes (T1D), the pancreatic βcells are selectively destroyed by the immune system resulting in absolute insulin deficiency. It has been long established that approximately half of the genetic risk for T1D is conferred by genetic loci associated with β-cell function, apoptosis, and regeneration.Aim: We report the case of a 6- year-old boy with new onset type T1D, and identified genetic l...

Background: The association of GH deficiency (GHD) with central precocious puberty (CPP) has been reported in individuals with central nervous system (CNS) abnormalities, congenital or acquired. Co-existence of GHD and CPP has been rarely reported, always as an isolated, sporadic disorder.Objective and hypotheses: To present the familial occurrence of combined GHD and CPP.Method: GH was measured post L DOPA, glucagon and GHRH and g...

Background: Molecular defects are rarely detected in Premature ovarian insufficiency (POI) patients.Objective and Hypotheses: We hypothesized that the frequency of causative molecular defects could be higher in cases with early onset of POI. Moreover, the analysis of multiple genes in the same POI group could disclose co-existence of more than one molecular aberration.Method: In 25 subjects, aged 17.1±7 years at POI onset, bid...

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

Background: In vitro fertilisation (IVF) has been widely used during the last decades. Increased susceptibility to birth defects and a higher cardiometabolic risk in children born after IVF than naturally conceived (NC) children have been reported. Also, a higher incidence of hyperthyrotropinemia has been noted in children born after IVF with respect to NC children and has been attributed to an epigenetic modification of the TSH set-point.Object...

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

Introduction: Maternal perinatal mental disorders (PMDs) are associated with developmental and behavioral problems in the offspring, probably mediated by the programming of the limbic-hypothalamic-pituitary-adrenal (LHPA) axis. Increased or decreased cortisol concentrations during pregnancy and the perinatal period have been associated with alterations in the stress responses of the offspring and with child behavioral problems; however, such associations remain unclear.<p ...

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...