ESPE Abstracts

Background: Alström Syndrome (ALMS), occurred due to mutations in ALMS1 gene, is a rare otosomal ressesive disorder. Seven hundred cases have been reported so far. Main clinical findings are rod con dystrofy, neurosensorial deafness, obesity and type 2 diabetes. Hypogonadism, hypothyroidism, growth hormone deficiency, hipertryglyceridemia, cognitive dysfunction, cardiomyopathy, renal, hepatic and pulmoner disorders could also be seen.Objective and h...

Background: A neonate, born at 34 weeks gestation by caesarean section for foetal distress, was severely growth retarded at birth. Deranged liver functions were noted at birth with (alanine transaminase (ALT), aspartate transamninase (AST) and gamma-glutamyl transfererase (GGT) recorded as 102, 228 and 1078 U/l respectively. The GGT rose to a peak of 3877 U/l at 6 months of age. The clinical course of the neonate was associated with failure to thrive and intermittent hyperglyc...

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: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

Background: Wolcott–Rallison syndrome (WRS) which is characterized with permanent neonatal diabetes mellitus (PNDM), epiphyseal dysplasia, recurrent hepatitis and is caused by EIF2AK3 mutations.Objective and hypotheses: There is a possibility of a variant form of WRS, not caused by EIF2AK3 mutation.Method: Case 1: She was born at term from consanguineous parents. Family history was unremarkable. She had been ...

Background: Metabolic syndrome (MetSyn) is defined as a group of disorders including diabetes mellitus, central obesity, dyslipidaemia, and hypertension.Aim: To investigate the role of lifestyle habits in correlation with MetSyn in children.Methods: In our research, 480 students, 6–12 years old, were participated living in Sparta–Greece. During 2011–2012, a specially designed questionnaire was used and anthropometric...

Background: Some obese children are metabolically healthy obese (MHO), while some are metabolically unhealthy obese (MUO) having dyslipidemia and/or insulin resistance which increase mortality and morbidity related to cardiovascular diseases during adulthood.Objective and hypotheses: This study is designed to assess factors affecting metabolic condition in obesity and compare clinical and laboratory findings between MHO and MUO children.<p class="abs...

Backgound: Type 1 diabetes mellitus (T1DM) is one of the chronic disease frequently encountered in childhood and the non-alcoholic fatty liver disease is one of the uncommon complications in the management of these patients.Objective and hypotheses: In this study, we aimed to investigate the relationship between serum fetuin-A levels which a negative acute phase reactant and the non-alcoholic fatty liver disease in T1 diabetic patients.<p class="abst...

Background: Increasing obesity epidemic is not limited to the developed world, but is gradually gaining grounds in the developing countries. The attendant metabolic syndrome is one major complication but liver disease seems to be attaining significant proportion in adult and adolescent obese patients.Objective and hypotheses: To evaluate the extent of liver damage in obese children attending the Paediatric endocrinology clinic using liver enzyme levels.<...