ESPE Abstracts

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

Background: Patients with 45,X/46,XY mixed gonadal dysgenesis (MGD) have variable phenotypes leading to both male and female sex assignments. A multidisciplinary team should guide the process of sex assignment, however a standardized approach may provide objective guidance for the team as well as a tool for settings without such resources. One of the most important considerations for sex assignment is the hormonal production, which often determines the degree of virilization. ...

Objective: It is known that vitamin D has differential roles in cell proliferation, differentiation, neurotransmission and neuroplasticity in nervous system and exerts neurotrophic and neuroprotective effects. In recent studies, it was shown that vitamin D could be protective against in age-related macular degeneration and optic neuritis related to demyelinating disorders. Here, we aimed to perform visual evoked potential (VEP) studies before treatment in patients with rickets...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Hashimoto's thyroiditis (HT) is most commonly caused by autoimmune thyroid disease and rarely in children. It is characterized clinically by gradual thyroid failure, with or without goiter formation, due to autoimmune-mediated destruction of the thyroid gland involving apoptosis of thyroid epithelial cells. In fact, thyroid function at presentation may significantly vary in the different pediatric reports, ranging from euthyroidism (52.1%) to overt hypothyroidism (41.4...

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...