hrp0092p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Mutation of Phex Gene Inducing X-Linked Hypophosphatemia Rickets, A Case Report

Pinto Renata , Francisco Mendes Arthur , Barbosa Julio Montes , Steinmetz Lucas

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...

hrp0092p3-289 | Late Breaking Abstracts | ESPE2019

Quality of Life of Patients with Type 1 Diabetes

Markosyan Renata , Aghajanova Elena , Navasardyan Lusine , Bayburdyan Gayane

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...

hrp0089p2-p235 | GH & IGFs P2 | ESPE2018

Hormonal Predictors of Growth Hormone Therapy Effectiveness in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Hilczer Maciej , Smyczynska Joanna , Urszula Smyczynska , Stawerska Renata , Lewinski Andrzej

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: patientÂ’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...

hrp0089p2-p237 | GH & IGFs P2 | ESPE2018

Predictors of Poor Response to Growth Hormone Therapy in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Smyczynska Joanna , Smyczynska Urszula , Hilczer Maciej , Stawerska Renata , Lewinski Andrzej

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: patientÂ’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...

hrp0086p1-p626 | Growth P1 | ESPE2016

Significance of IGF-I Generation Test in Diagnosing Primary and Non-Primary IGF-I Deficiency – Clinical Considerations

Smyczynska Joanna , Smyczynska Urszula , Stawerska Renata , Lewinski Andrzej , Hilczer Maciej

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...

hrp0082p2-d2-429 | Growth Hormone (1) | ESPE2014

What Should be the Diagnosis and Management of Short Children with IGF1 Deficiency, Responding to GH Administration Despite Normal GH Secretion?

Smyczynska Joanna , Stawerska Renata , Lewinski Andrzej , Hilczer Maciej

Background: GH deficiency (GHD) is currently defined as secondary IGF1 deficiency (IGFD). In the patients with normal GH secretion and IGFD, significant increase of IGF1 during generation test excludes primary IGFD, however is not an approved indication for GH therapy.Objective and hypotheses: The aim of the study was to assess GH therapy effectiveness in children with IGFD, responding to short-term GH administration despite normal GH peak after falling ...

hrp0082p3-d2-834 | Growth (1) | ESPE2014

Effectiveness of GH Therapy in Children with Short Stature and Decreased GH Peak in Stimulating Tests is Independent from GH Secretion After Falling Asleep

Hilczer Maciej , Smyczynska Joanna , Stawerska Renata , Lewinski Andrzej

Background: GH deficiency (GHD) is routinely diagnosed on the basis of decreased GH peak in two stimulating tests (GHST). In Poland, few years ago, an assessment of nocturnal GH secretion after falling asleep (noctGH) has been introduced as a screening test in diagnosing GHD.Objective and hypotheses: The aim of the study was to assess GH therapy effectiveness in children with decreased GHST with respect to noctGH.Method: Retrospect...

hrp0084p3-952 | GH &amp; IGF | ESPE2015

Linear Regression Model of Final Height Prediction Based on Pre-Treatment Data in Children with GH Deficiency Treated with GH

Hilczer Maciej , Smyczynska Joanna , Smyczynska Urszula , Stawerska Renata , Lewinski Andrzej

Background: Prediction of GH therapy effectiveness in children with short stature is an important issue in paediatric endocrinology.Objective and hypotheses: The aim of the study was to create a linear regression model of GH therapy effectiveness, based on the data available before treatment.Method: Retrospective analysis comprised the data of 150 short children (101 boys), diagnosed with isolated GH deficiency, who were treated wi...

hrp0094p2-49 | Adrenals and HPA Axis | ESPE2021

Assessment of Patients With Congenital Adrenal Hyperplasia in Armenia

Markosyan Renata , Navasardyan Lusine , Bayburdyan Gayane , Aghajanova Yelena ,

The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis.Aim: To investigate the clinical features of the patients with CAH.Methods: The current study was conducted on 106 Armenian patients with CAH.Results: Distribution between regions: 45.3% were from Yerevan, 13.2%-Syunik region, 11.3...

hrp0092p1-355 | Fat, Metabolism and Obesity (2) | ESPE2019

A Comparison of Insulin Resistance Indices: HOMA and Belfiore in 6-8-Year-Old, Properly Growing Children, Born Small for Gestational Age

Stawerska Renata , Lupinska Anna , Szalapska Malgorzata , Kolasa-Kicinska Marzena , Smyczynska Joanna , Hilczer Maciej , Lewinski Andrzej

Introduction: It is well known that low birth weight in children (born small for gestational age, SGA) predisposes them to the occurrence of obesity, insulin resistance (IR) and lipid disorders, observed even through the whole first decade of life. Thus, early diagnostics and prevention are very important. The HOMA index is used to assess insulin resistance (IRIHOMA). However, in some cases, high, prolonged postprandial insulin secretion is observed...