hrp0095p1-197 | Thyroid | ESPE2022

A familial case of PAX8 gene variant with incomplete penetrance

Shreder Ekaterina , Vadina Tatiana , Solodovnikova Ekaterina , Shiryaeva Tatyana , Konuhova Marina , Dmitrieva Maria , Bogdanov Viktor , Nagaeva Elena , Bezlepkina Olga

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

hrp0092p1-151 | Thyroid | ESPE2019

Iodine Status in Newborns and Mothers in Georgia

Patsatsia Ekaterine , Gordzeladze Marine

Background and Aims: For years Georgia belonged to a iodine deficiency endemic region, though as a result of a long-term actions aimed at improving the iodine status the country today is a non-iodine deficient region. For this reason it was decided to study present iodine status of newborns and their mothers leaving in the capital of Georgia, which is no longer non-iodine region.Materials and Methods: In total 87 newborn...

hrp0095p1-316 | Growth and Syndromes | ESPE2022

Curve matching to predict future growth in patients receiving recombinant human growth hormone: an interpretable and explainable method using big data

van Dommelen Paula , Arnaud Lilian , Koledova Ekaterina

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

hrp0092p1-220 | GH and IGFs (1) | ESPE2019

Real-World Data From Electronic Monitoring of Adherence to Growth Hormone Treatment in Children with Growth Disorders: A Descriptive Analysis

Koledova Ekaterina , Tornincasa Vincenzo , van Dommelen Paula

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

hrp0092p2-159 | GH and IGFs | ESPE2019

Growth Hormone Treatment Adherence in Latin American Patients: 2-Year Real World Data from the Easypod™ Connect eHealth Platform

Restrepo Manuela , Koledova Ekaterina , Tornicasa Vincenzo

The easypod™ injection device allows automatic recording and transmission of adherence data from patients receiving recombinant human growth hormone (r-hGH; Saizen) to treat growth disorders. Through the easypod™ connect platform, healthcare professionals can access transmitted data and gain insights into adherence patterns. This analysis aimed to evaluate real-world adherence to r-hGH therapy administered via easypod™ at 1, 3, 6 12 and 24 months, plus overall d...

hrp0092p2-172 | GH and IGFs | ESPE2019

Differences of Efficiency of Treatment of Isolated Growth Hormone Deficiency and Panhypopituitarism in Children in Real Clinical Practice

Rudkova Ekaterina , Grisuk Ivan , Solntseva Angelica

Introduction: Deficiency of growth hormone (GH) in children is manifested by pronounced stunting (below -2 sigmal abnormalities (SD)). Frequency of occurrence varies from 1:4000 to 1:10000 newborns.Objective: To assess the effectiveness of treatment by comparing the dynamics of growth of children with isolated growth hormone deficiency (IGHD) and of children with panhypopituitarism (PHP).Ma...

hrp0092p2-219 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Aromatase Inhibitor Treatment in Patient with Beta-Human Chorionic Gonadotrophin Secreting Tumor and Gonadotropin-Independent Precocious Puberty

Kiiaev Aleksei , Mazerkina Nadia , Astashova Ekaterina

Introduction: CNS tumors may cause precocious puberty (PP): in most cases gonadotropin-dependent PP, but in boys ß-HCG- secreting tumors may cause gonadotropin-independent (GIPP) with extremely high testosterone secretion due to Leidig cell stimulation by ß-HCG. Rapid bone maturation in such cases can lead to growth plate closure and poor final height prognosis. Aromatase inhibitor (AI) are administered in children with McCune-Olbright disease, famil...

hrp0089p2-p100 | Diabetes & Insulin P2 | ESPE2018

The Glycemic Variability in Children with Diabetes Mellitus

Dianov Oleg , Lavrova Ekaterina , Gnusaev Sergey

The glycemic variability (GV) - is the scope of changes in blood glucose levels for a certain period of time. In patients with diabetes mellitus type 1 (DM1), GV are more pronounced, especially in children. The aim: analyze the glycemic variability in children with diabetes mellitus.Materials and methods: 126 children aged from 6 to 17 years with duration from DM 16 years were examined. Investigated: glycated hemoglobin (HbA1c), insulin ...

hrp0084p2-302 | Diabetes | ESPE2015

The Impact of Diurnal Glycaemic Variability on the Cardiovascular System in Children with Type 1 Diabetes Mellitus

Dianov Oleg , Gnusaev Sergey , Lavrova Ekaterina

Background: Diurnal glycaemic variability has a direct impact on the formation of chronic complications of type 1 diabetes mellitus (T1DM) in children.Aim: To clinically assess the function of the cardiovascular system depending on the diurnal glycaemic variability in children with T1DM.Material and methods: The study involved 65 children (30 girls and 35 boys) aged 4–17 years (mean age – 11+0.4 years old) with T1DM durat...

hrp0094p2-54 | Adrenals and HPA Axis | ESPE2021

Clinical and hormonal features of the manifestation of various forms of congenital adrenal hyperplasia in children in real clinical practice

Rudkova Ekaterina , Solntsava Anzhalika , Grisuk Ivan ,

Introduction: Congenital adrenal hyperplasia (CAH) is a disease characterized by a defect in one of steroidogenic enzymes or the gene encoding the transport proteins. Frequency of occurrence is 1: 14000 newborns.Objective: To determine the age, clinical manifestations, the incidence and the effectiveness of treatment various forms CAH in children.Materials: Medical History of 35 patients aged from ...