ESPE Abstracts

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

Objectives: We aimed to evaluate the performance of lipid accumulation product (LAP) to predict non-alcoholic fatty liver disease (NAFLD) in obese children.Methods: Eighty obese chidren (39 girl) were included in this study (6–18 years). Height, weight, body mass index (BMI), waist circumference (WC), puberty stage, blood pressure (n=28), fasting glucose, fasting insulin, HOMA-IR, alanine aminotransferase (ALT), aspartate aminotransferase (...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...

Objectives: Vitamin D deficiency is an important health problem in pregnant women and their infants in sunny countries. The present study evaluated serum 25-hydroxyvitamin D3 (25(OH)D3) concentrations in pregnant women and in their newborns and determined the risk factors in LSES cities in Turkey.Methods: Ninety-seven pregnant women and their newborns were included in the study between December 2012 and February 2013. All of the pregnant women had irregu...

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...

Objectives: We aimed to evaluate the performance of waist circumference triglyceride index(WTI) to predict non-alcoholic fatty liver disease(NAFLD) in obese children.Methods: In this study 139 obese children(71 girls) were included(6-18 years). Height, weight, body mass index(BMI), waist circumference(WC), puberty stage, blood pressure, and biochemical values were obtained from the medical records. SDS and percentiles we...

Objective: In patients with growth hormone deficiency (GHD), even in those with no major organic lesion, anterior pituitary height (APH) is reported decreased. Limitations in the evaluation of APH and changes according to pubertal status make its validity questionable. Recently, in a small scale study, pons ratio (PR) has been suggested as a more sensitive marker for evaluation of pituitary gland in GHD patients. The study aims to evaluate the validity of PR a...

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...