ESPE Abstracts

Background: Experience with oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) for central diabetes insipidus (CDI) in children with CNS malformations is limited.Objective and hypotheses: We aimed to assess the efficacy of oral use of OLD in children with CDI.Methods: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were eva...

Background: Over the last years a role for gastrointestinal hormones, such as glucagon-like peptide (GLP-1), in the pathogenesis of obesity and its complications, has been hypothesized. However, there are few data for the paediatric population.Objective and hypotheses: To assess whether there is a difference in post-load GLP-1 response in obese children compared to normal-weight peers and to assess the relationship with insulin responses.<p class="ab...

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...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

Type 1 diabetes (T1D) hits about 1:300 with rising incidence affecting increasingly younger children. Population screening at ages 2-6yrs with T1D associated autoantibodies (T1Ab) has been recently proven sensitive. While potential treatments to prevent or delay T1D are currently in development, a population based cost-effective preventive strategy is still lacking. Hence, 2000IU cholecalciferol daily in a large birth cohort study published in 2001 reduced by 80% the risk of T...

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...

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.</...

Objective: β-thalassemia major is an autosomal recessive hemoglobinopathy that needs to blood transfusion for the survival of patients with β-thalassemia. Iron overload as a side effect of transfusion causes some endocrine deficiency in these patients. The injectable iron chelators as an only treatment in the past lead to painful among patients. At present, use of oral iron chelator and increase in patients’ compliance has been successful....

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...