ESPE Abstracts

Background: Folate and cobalamin are needed for synthesis of methionine, a substrate of methylation in epigenetic, and epigenomic pathways. Methyl donor deficiency (MDD) leads to hyperhomocysteinemia, which has been related to osteoporosis in humans and disruption of epiphyseal cartilage and bone development in rodents. Recent studies have revealed evidence for association between 25(OH)D3 and homocysteine levels, however, underlying mechanisms remain elusive.<p...

Background: Skeletal muscle is the largest tissue involved in the insulin-stimulated disposal of glucose, with its size being controlled by hormonal status, among other factors. Leptin plays a primary role in the regulation of glucose homeostasis with a substantial degree of insulin and leptin cross-talk in muscle. However, the relationship between the leptin’s central effects on insulin sensitivity in muscle and associated structural changes remain unclear.<p class="...

Background: Endocrine disruptors (ED) can alter endocrine function. ED have become a part of everyday life and are found among phytoestrogens, active ingredients in pharmaceuticals, and additives or contaminants in food, personal care products, cosmetics, plastics and textiles.Objective: To describe cases of children with signs of early puberty who are exposed to ED.Method: Observational study of patients affected of premature pube...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...

Aim: to evaluate sleep quality by accelerometry and its association with anthropometry and biochemical parameters in children and adolescents after a multidisciplinary interventionSubjects Materials and Methods: One hundred and twenty-two children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a multidisciplinary intervention study to lose weight. Abdominal obesity was diagnosed using the waist circumference...

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...