ESPE Abstracts

Objective: Infants born to mothers with glucose intolerance are at an increased risk of having growth abnormalities at birth and postnatally. This study evaluated the growth pattern of IDMs from birth to the age of 2 years.Research Design and Methods: Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM and 40 infants of non-diabetic mothers who presented with significant neonatal hypoglycemia (p...

Growth abnormalities at birth and abnormal postnatal pattern of weight gain have been reported in infants born to mothers with gestational diabetes (IDM). This study evaluated the growth pattern from birth to the age of 2 years of 60 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/...

Introduction: Childhood hypophysitis (CH) is an extremely rare entity that has difficulties in definition and displays a wide variety of symptomatology. The volume and shape of pituitary gland may increase in physiological periods such as puberty and pregnancy, it may also change in various neuroendocrine and psychiatric diseases. It is important to distinguish physiological changes observed in the pituitary, especially in puberty, from hypophysitis.F...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

Introduction: Parathormone-related peptide (PTHrP) regulates tissue calcium concentration by acting in paracrine or autocrine ways. It is mostly responsible for paraneoplastic hypercalcemia seen in adults. Paraneoplastic hypercalcemia in children is rarely reported in cancers such as ALL, medulloblastoma and hepatoblastoma (0.4–0.7%). In experimental studies, PTHrP is shown to be synthesized apart from neoplastic tissue (glomerulus and tubule cells).<p class="abstext"...

Background: MicroRNAs (miRNAs) are short non-coding RNAs that repress target gene expression via post-transcriptional mechanisms.Objective and hypotheses: To study the expression of miRNA-25, miRNA-216, miRNA-21, miRNA-93, miRNA-377 in a sample of 100 type 1 diabetic patients with and without microalbuminuria to probe their role in development of diabetic nephropathy.Methods: Hundred type 1 diabetic patients, 50 with microalbuminur...

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

Background: Fanconi-Bickel syndrome (FBS) is a glycogen storage disease caused by the homozygous mutations of SLC2A2 gene which codes GLUT2 protein. It is characterized by growth retardation, hepatomegaly and hypophosphataemic rickets. While most of the cases with FBS have fasting hypoglycaemia and postprandial hyperglycaemia, only few cases had been shown to have neonatal diabetes (ND).Case presentation: A 14 days old girl was admitted to hospital with ...