ESPE Abstracts

Background: It was suggested that vitamin D has both direct and indirect effects on modifying the lipid profile in patients with diabetes through its regulatory action that increases the activity of lipoprotein lipase in adiposity.Objective and hypotheses: To detect the relationship between serum 25(OH) D and lipid profiles in patients with T1D and dyslipidemia and to study the effect of vitamin D supplementation on lipid profiles of vitamin D deficient ...

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...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) due to mutation in StAR gene, is the most severe form of congenital adrenal hyperplasia (CAH). Affected patient had intracellular cholesterol accumulation in the adrenal glands and tests that manifest clinically in adrenal insufficiency and sex reversal in XY male. Hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids, is the treatment option.<p class="abst...

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

Introduction: FOXP3 protein is crucial in enabling T-regulatory cells to maintain tolerance to self-antigens. Mutations in human Foxp3 gene are associated with immune diseases, such as multi-organ autoimmune disorder, immune dysregulation, polyendocrinopathy, enteropathy and X-linked syndrome (IPEX).Case Presentation: A 15 months old male, presented initially at 2 weeks of age with failure to thrive hyperglycemia and sev...

Introduction: PCSK1/3 gene mutations are known as a cause for congenital diarrhea and various endocrinopathies. Hypogonadotrophic hypogonadism and aberrant pubertal development due to pro-convertase dysfunction was not characterized yet. This study aimed to characterize the pubertal development in a family carrying the novel N309K mutation in the PCSK1 gene.Methods and Results: We Identified 2 siblings who presented with severe congenital diarrhea follow...

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

Background: Processing of Precursor 1 (POP1) is a core protein component of the Ribonuclease-Mitochondrial RNA Processing (RNase-MRP) enzymatic complex, an essential complex in all eukaryotes. Mutations in RMRP, encoding the RNA moiety of the complex cause cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders, characterized by severe disproportionate short stature. Recently, five patients harboring mutations in POP1 have been report...

Introduction: Patients homozygous for mutation in the PCSK-1 gene present clinically with severe congenital diarrhea and variable hormonal defects due to lack of enzyme/prohormone processing by Prohormone Convertase 1/3 (PC1/3). Although absence of spontaneous puberty has been reported in patients with PCSK-1 mutations, no peptide hormone(s) in the hypothalamus-pituitary-gonadal axis (HPG) have been reported to be dependent on PC1/3 cleavage. Here we studied t...

Background: Diabetic ketoacidosis (DKA) is a common, life-threatening complication of type 1 diabetes (T1D). Insulin deficiency impairs lipoprotein lipase (LPL) resulting in elevated serum triglycerides (TG) that usually normalize after establishing IV insulin.Objectives: To study the prevalence of hypertriglyceridemia during DKA in T1D patients and assess its relation to DKA severity and glycemic control after 3 months.Methodology...