ESPE Abstracts

Background: We analyzed characteristics of patients with stunting admitted at Endocrinology Department of Muratsan University Medical Settings, the only specialized center in Armenia. No similar study was carried out in this region.Objective and hypotheses: Patients (n=102) were evaluated prospectively.Method: The following parameters were used for statistical analysis- demographic information, diagnosis, anthropometric da...

Aim: To examine offspring of patients with simple obesity. To ascertain, if there are some disturbances in the carbohydrate or lipid metabolism or unknown type 2 diabetes in these subjects.Method and subjects: Examined were 132 families, 108 families with obesity, and 24 families without obesity, the control group. 14 additional were excluded because of ascertained at the time of examination unknown type 2 diabetes in the parents. In all of the offspring...

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

The objective of the study was to evaluate the Pediatric Quality of Life (PedsQL) of children from 8-12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand gender and other factors influence on PedsQL and disease management.We conducted a prospective non-randomized cross-sectional study. Children with T1DM were identified from pediatric endocrinology department registries. The onset of diabetes had to be more than 6 months. All con...

Prediction of growth hormone (GH) therapy effectiveness in children with short stature is an important issue for optimizing its course. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset, pre-treatment change of height SDS (HSDS V0) and pre-treatment IGF-I and IGFBP-3 secretion but not the results of GH stimulation tests; the...

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

Background: The diagnosis of severe primary IGF-I deficiency (IGFD) in children with normal growth hormone (GH) peak in stimulation tests (stimGH) should be confirmed by IGF-I increase <15.0 ng/ml during generation test (IGF-GT), however the significance of IGF-GT has been questioned by some researchers.Objective and hypotheses: Evaluation of the significance of IGF-GT in children with normal stim GH and IGFD, with respect to efficacy of growth-promo...