ESPE Abstracts

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 and aim: Childhood obesity is one of the most serious public health problem. Obesity-related complications such as hepatic steatosis or type 2 diabetes can now be monitored even during early childhood. The aim of the study was to examine the relationship between vitamin D levels and obesity with hepatosteatosis (HS) in children.Methods: A total of 128 children with obesity were included in this study. HS was diagnosed using ultrasonography. HS...

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

Background: Polyuria-polydipsia syndrome (PPS) is a common condition in children, and its etiology is not always easily elucidated. Although the water deprivation test remains the gold standard for diagnosis, its limitations necessitate the search for alternative diagnostic methods. Due to its stability, copeptin is a valuable current parameter that is considered more reliable than AVP measurement. This study aims to compare copeptin levels between patients wi...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting from a genetic defect in one of the enzymes involved in the synthesis of cortisol from cholesterol in the adrenal cortex. Although steroid hormone levels are used in the diagnosis and monitoring of CAH, not all steroid hormone levels can be measured by ELISA. Steroid hormone levels are measured using immunoassay and liquid chromatography-mass spectrometry (L...