ESPE Abstracts

Background: Permanent neonatal diabetes mellitus (PNDM) is a persistent hyperglycaemia diagnosed within the first 6 months of life. A correct genetic diagnosis can affect treatment and clinical outcome. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration and failure to thrive. Insulin production is inadequate, requiring exogenous insulin therapy. The treatment corrects the hyp...

Objective: The A1C assay, expressed as the percent of hemoglobin that is glycated, measures chronic glycemia and is widely used to judge the adequacy of diabetes treatment and adjust therapy. Day-to-day management is guided by self-monitoring of capillary glucose concentrations (milligrams per deciliter or millimoles per liter) as well as by using continuous glucose monitoring systems (CGMS). We found a mathematical relationship between A1C and average glucose (AG) levels meas...

Introduction: Type 1 diabetes (T1DM) is an autoimmune disease with abnormal immune responses to specific β-cell autoantigens, resulting in insulin deficiency. Children and adolescents with T1DM may also develop organ-specific autoimmunity. The most frequently reported disorders are thyroid dysfunction and celiac disease. There are limited previous studies on the prevalence of associated autoimmunity, especially multiple, in children with T1DM.Aim: T...

Studies support the existence of a genetic contribution to both type 1 and type 2 diabetes, and additionally suggest a relationship between both types of diabetes. The rapidly growing worldwide epidemic of type 2 diabetes has been partially explained by obesity and the sedentary lifestyle. However, familial factors also seem to play a major role in the pathogenesis of type 2 diabetes.). The fact that type 1 and type 2 diabetes cluster in families suggests that some patients ma...

A 13 months old infant, presented with failure to thrive, untreated congenital hypothyroidism and pseudo-hypertrophy of limb muscles (i.e. Kocher-Debre-Semelaigne syndrome). The child had delayed motor and mental development. Thyroxin replacement therapy, as well as nutritional support, was initiated.Two to three weeks after treatment introduction, the motor and cognitive developments were accelerated with striking improvement as if global growth was sto...

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

Background: The prevalence of type 2 diabetes (T2D) is significantly increased in pediatric population, which is affected by obesity worldwide. The progression of insulin resistance to T2D in obese children has been shown to be faster than in adults. Therefore, screening for T2D seems meaningful especially in high risk groups such as children and adolescents with obesity, family history of T2D, and those with clinical features of insulin resistance (hypertension, dyslipidemia,...

Background: Many epidemiological studies have found high prevalence of vitamin D deficiency in children with type 1-diabetes mellitus (T1D). 1,25(OH)2D is a potent immune-modulator that also enhances the production and secretion of several hormones, including insulin. The association of low serum 1,25(OH)2D levels with high glucose level and diminished insulin sensitivity suggests that vitamin D may modulate insulin metabolism.Aim and objectives: To scre...

Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiology affecting the mononuclear phagocyte system. It is characterized by clonal uncontrolled proliferation and accumulation of immature dendritic cells in different organs. Affected cells express CD1-alpha and/or CD207 (Langerin) on immunohistochemistry. Although bone is the most commonly affected organ (80%), all other organs can be affected either alone or in combination. LCH is classified into Single syste...

Introduction: obesity is a major health problem worldwide and its incidence is increasing annually. Adipose tissue produces and regulates many hormones and cytokines which have relationship with obesity comorbidity. Serum level of vitamin D has been previously reported to have a negative relationship with obesity.Objective: To evaluate the relationship between vitamin D status and leptin, adiponectin, lipid profile and I...