ESPE Abstracts

Introduction: The impact of gestational diabetes mellitus (GDM) on fetal development and the future health of the child need further studying. In accordance to the criteria by Hyperglycemia and Adverse Pregnancy Outcome Study, GDM can lead to a number of negative consequences, including the impact on disturbance of metabolic parameters.Aim: To compare the impact of glycemia during pregnancy on the children’s metabolic status.M...

Background: Recently kisspeptins are considered as a key gatekeepers of the regulation of the gonadotropic axis.Objective and hypotheses: To investigate the impact of experimentally induced hypogonadism on kisspeptins signaling in androgen-dependent tissues and blood.Method: Wistar male rats (29 in total) were used. Rats were divided into four groups. Group 1 (control, prepubertal rats aged 2 months, n=7). Group 2 (control...

Background: Pallister-Hall syndrome (PHS) is a rare autosomal dominant disorder characterized by a complex of different abnormalities (polydactyly, bifid epiglottis, hypothalamic hamartoma, imperforate anus). Syndrome is cuased by mutations in the GLI3 gene. PHS is associated with hypopituitarism, early or precocious puberty.Objective: to demonstrate a patient with PHS treated with growth hormone (GH) and gonadotropin re...

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...

Background: The symptoms of Prader–Willi syndrome are likely due to dysfunction of a portion of the brain called the hypothalamus. Children of Prader–Willi syndrome want to eat constantly because they never feel full hyperphagia and usually have trouble controlling their weight.Objective and hypotheses: Genetic syndromes with obesity and delayed altered intellectual development as a major part of the phenotype include Prader–Willi syndrome...

Background: Pediatric acute lymphoblastic leukemia survivors (pALL-S) carry a risk for developing metabolic abnormalities, including obesity, abnormal glucose metabolism (AGM) and dyslipidemia. Previous studies showed conflicting data regarding the pathophysiology of AGM in those survivors. Additionally, there has never been a study comparing glucose metabolism between pALL-S and simple obese children (Ob-C). This study aimed to assess glucose metabolism in pA...