ESPE Abstracts

Introduction: To date, there are no clear indications for surgical treatment of nodular goiter in children. Current scheme of diagnostic evaluation thyroid nodules in children is not always justified. A number of patients either go to the removal of thyroid remnants when a carcinoma is found in the histological examination and the need for radioiodine therapy, or are at risk of surgery if the results of the final histology show that the disease is benign.<p class="abstext"...

Introduction: Thyroid surgery in children is associated with high risk of recurrent laryngeal nerves (RLN) damage. It is due to complex and variable anatomy, high bleeding which decreasing visualization and requiring instrumental hemostasis. Large goiters change of syntopy, metastatic process requires bigger aggression and volume of intervention. The risk of damage significantly increases during repeated operations due to the scar process. There is significant...

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Background: An accurate and comprehensive assessment of steroid hormones is pivotal for differential diagnosis of disorders of sex development (DSD) 46,XY, a part of which may be due to defects of testosterone biosynthesis.Objective and hypotheses: To describe and characterise a case of DSD 46,XY presented with unusual serum steroid profile.Method: Serum steroid hormones were analysed by liquid chromatography-tandem mass spectromet...

Background: Disorders of carbohydrate metabolism in children and adolescents with cystic fibrosis occur from 5 to 12.6%, significantly increasing during the teenage period and reaching 24–50% in adults.Method: An analysis of 499 medical records was conducted. All the patients were treated in the Russian Children’s Clinical Hospital in 2012. The survey was carried out on carbohydrate metabolism and indications according to children after 12 year...

Background/aim: Osteoporosis is a known complication in adults with type 1 diabetes mellitus (T1DM), but whether the bones are affected in children and adolescents with T1DM remains controversial. The study aim was to evaluate bone mineral density (BMD) in children and adolescents with T1DM and identify risk factors associated to lower BMD.Method: In a single-center cohort of children and adolescents with T1DM, BMD was examined by dual-energy X-ray absor...

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...

Introduction: Maturity Onset Diabetes of the Young (MODY) is clinically and genetically heterogeneous type of Monogenic Diabetes (MD) and to date 14 genes have been associated with different MODY subtypes. It is a rare disease characterized by early onset hyperglycemia, autosomal dominant inheritance, and defect in β cell insulin secretion, often misclassified as T1DM or T2DM.Materials and Methods: Genetic analysis ...

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...

Background: Paediatric Cushing disease (CD) is rare but can be severe. Diagnosis and proper management are often delayed and the course of disease is unpredictable. Support from experts in the field is essential.Objective and hypotheses: We present a male patient, diagnosed with Cushing syndrome elsewhere more than two years after his initial signs and symptoms. For 6 months he underwent numerous investigations, which were inconclusive and was left untre...