ESPE Abstracts

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

A female patient with atypical diabetes features, showing heterozygous mutations on G6PC2 (Glucose 6 phosphatase, catalytic subunit 2). Does explain all clinical manifestations or is it only polymorphism?Introduction: Determing diabetes subtypes and classification is not clear for every patient and diagnosis can be difficult. Here in, we have found a quite interesting mutation on G6PC2 gene in a girl, 10 years old, showing atypical diabetes characteristi...

Background: Non-alcoholic fatty liver disease (NAFLD) has become a public health issue because its incidence increased threefold during the last 3 decades among children and adolescents. Although liver biopsy is the gold standard to determine NAFLD, its applicability is low in childhood. Thus, some noninvasive markers are being used more commonly.Objective and hypotheses: We aimed to find the most reliable marker to detect NAFLD in routine examination.</...

Background: Platelet levels plays a key role for determining insulin resistance by a simple test. The degree of platelet activation may be assessed by platelet indices such as platelet count, mean platelet volume (MPV), and platelet distribution width (PDW).Objective and hypothesis: The aim of this study is to assess platelet count, MPV, and PDW as metabolic indicator in obese chlidren with or without insulin resistants.Methods: Tw...

Background: Type 2 diabetes (T2DM) increases in parallel with obesity in childhood. T2DM can be associated with cardiovascular risk (CVR) even childhood.Objective: To investigate the presence of CVR criterions in children with T2DM and to detect CVR as the earliest age as possible.Method: This study enrolled 84 (58 Girls) children with T2DM. OGTT was performed in 47 children. Biochemical and hormonal analyses were performed in fast...

Bardet-Biedl syndrome (BBS) is a rare and multisystemic disorder characterized by rod-cone dystrophy, post-axial polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. The disorder is genetically heterogeneous. To date, 21 genes present on different chromosomes have been mapped. The most common genes are BBS1 (locus 11q13) and BBS10 (locus 12q21.2). We aimed to report two family with five affected children with typical clinical features of Bardet-Bi...

Objective: Hyperthyroidism is rarely seen in the childhood. In this study, we evaluated the reference sign and symptoms and following laboratory and treatment results of the hyperthyroidism cases.Method: Data of the 78 patients were extracted from hospital records retrospectively. Patients’ height, weight, BMI and laboratory results at the time of diagnosis are recorded. Antithyroid drug doses at the 2th, 6th, 12th months after diagnoses are compare...

Background/Aim: Although there are many well-known components that affect the growth response to recombinate growth hormone (rGH), its effect on total height gain is still not fully predictable. Current knowledge on the relationship between growth response to rGH and its immunogenicity is limited. The aim of the study was to reveal its relationship with the antibody formation against rGH and growth-promoting effect.Materials and Methods:...

Background/Aim: Although there are many well-known components that affect the growth response to recombinant growth hormone (rGH), its effect on total height gain is still not fully predictable. A limited number of studies have been reported revealing up-to-date data on the relationship between immunogenicity and growth-promoting effects of rGH. The study aimed to examine the antibody formation against rGH and its consequences on growth-promoting effect in chi...