ESPE Abstracts

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

Context: Optimal levels of 25-OH-Vitamin D (25OHD) for children are unknown. Prevalent population levels of 25OHD are likely to be sub-optimal since sun exposure is reduced in modern living.Objective: To deduce recommended levels of 25OHD by testing, in children, the level at which 25OHD optimally effects calcium, phosphate and parathyroid hormone levels in a population-based data.Design:</...

Background: Puberty is a dynamic period of physical growth. Genetic factors, increasing prevalence of adiposity, environmental factors and the widespread presence of endocrine-disrupting chemicals are suspected to contribute to the trend of earlier pubertal onset.Method: The study group consists of 32 girls diagnosed with central puberty precocious. The eating habits and physical activity status were evaluated with a detailed questionnaire. Daily calorie...

Congenital adrenal hyperplasia (CAH) patients have a higher frequency of obesity, visceral adiposity, hyperinsulinism, insulin resistance and hyperandrogenism. There is increasing evidence that low vitamin D status is associated with impaired β-cell function, insulin resistance and impaired glucose tolerance.Objectives: This pilot aimed to determine the status of serum 25 (OH) D levels in CAH female patients who are followed up in Diabetes Endocrine...

Background: Skeletal mass approximately doubles at the end of adolescence. Socioeconomic Status (SES) and Vitamin D status may play a role in the development of bone mass.Objective and hypotheses: The aim of the present study is to examine the effects of different socioeconomic conditions on bone mineral density (BMD) and vitamin D status in healthy female college students and to determine the possible association between Vitamin D status and BMD.<p ...

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

Background: The prevalence of obesity has increased dramatically in Greece in the last decades, and more than 30% of children and adolescents are currently overweight or obese. Obesity is associated with decreased circulating 25-hydroxyvitamin D concentrations, which might predispose to metabolic syndrome and cardiovascular morbidity and mortality.Objective and hypotheses: To determine serum 25-hydroxyvitamin D concentrations and their relationship to ca...

Background: Recent studies have found a widespread deficiency of vitamin D during pregnancy. Its significance is still not fully understood, although low Vit-D levels have been associated to increased risk for conditions such as preeclampsia, bacterial vaginosis, neonatal sepsis, and early respiratory infections in the child. Supplementation to the pregnant mother is still a matter of debate, therefore it is important to understand better the causes, risk factors, and possible...

Inactivating mutations of ß-cell KATP channels cause the most common and severe form of congenital hyperinsulinism (HI), a ß-cell disorder that results in dysregulated insulin secretion and persistent hypoglycemia. Children with KATPHI are typically unresponsive to diazoxide, the only FDA-approved drug for HI. Octreotide, an SST2-selective agonist peptide that inhibits insulin secretion, is used as second line therapy, but poor efficacy and SST2...

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...