hrp0089rfc4.5 | GH & IGFs | ESPE2018

12-Month Effects of Once-Weekly and Twice-Monthly Administration of Hybrid Fc-Fused Human Growth Hormone, GX-H9, Treatment in Pediatric with GHD Deficiency

Malievskiy Oleg , Mykola Aryaev , Nataliya Zelinska , Bolshova Elena V , Senatorova Ganna , Oroszlan Gyorgy , Skorodok Julia , Peterkova Valentina , Nataliya Chorna , Sorokman Tamila , Yang Seung , Lee Ji Eun , Muzsnai Agota , Hwang Jin Soon , Lee Sang Yoon , Choi Yun Jung , Ji Hyi-Jeong , Woo Jungwon , Sung Young-Chul

GX-H9 is a long-acting form of recombinant human GH under clinical development for both adults and children with GH deficiency (GHD). This study was designed to compare 12-month effects of once-weekly and twice-monthly (every other week; EOW) administration of GX-H9 treatment to that of Genotropin®, in pediatric patients with GHD. A randomized, open-label, active-controlled, parallel study was conducted at 27 endocrinology centers in 10 countries (Europe and Ko...

hrp0092p1-165 | Adrenals and HPA Axis (1) | ESPE2019

How the Level of Antibodies Against 21-Hydroxylase Changes with Time in Patients with Addison's Disease

Sozaeva Leila , Nikankina Larisa , Malysheva Natalia , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

hrp0092p1-332 | Diabetes and Insulin (2) | ESPE2019

Targeted Next-Generation Sequencing Demonstrates High Frequency of MODY in Russian Children.

Zubkova Natalia , Laptev Dmitry , Sorokin Daniil , Makretskaya Nina , Petrov Vasily , Vasilyev Evgeny , Tiulpakov Anatoly

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

hrp0092lb-26 | Late Breaking Posters | ESPE2019

Dramatic Clinical Response to Lenvatinib in One Pediatric Patient with Advanced Metastatic Papillary Thyroid Carcinoma

Dujovne Noelia , Gazek Natalia , Pitoia Fabian , Ayarzabal Victor , Felipe Laura , Lopez Marti Jessica , Herzovich Viviana

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...

hrp0092p3-168 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Efficacy of Growth Hormone Treatment in a Patient with Chronic Granulomatous Disease, who Developed Acute Myeloid Leukemia after Bone Marrow Transplantation

Bossini Benedetta , Pellegrin Maria Chiara , Tawfik Sameh , Maximova Natalia , Barbi Egidio , Tornese Gianluca

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

hrp0089p1-p052 | Diabetes &amp; Insulin P1 | ESPE2018

Genetic Susceptibility to Type 1 Diabetes in Children: Analysis of Polymorphisms rs1990760 – IFIH1, rs20541 – IL13, rs231775 – CTLA 4

Goralczyk Aleksandra , Bossowski Artur , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

hrp0089p1-p070 | Diabetes &amp; Insulin P1 | ESPE2018

Birth Weight in Offsprings of Mothers with Gestational Diabetes Mellitus due to Mutations in GCK Gene

Zubkova Natalia , Burumkulova Fatima , Petrukhin Vasily , Plechanova Margarita , Panov Anton , Ulyatovskaya Victoria , Makretskaya Nina , Tiulpakov Anatoliy

Background: The prevalence of MODY2 in the gestational diabetic population has been estimated to be approximately 2%. Risk of macrosomia in GCK/GDM cases depends on maternal glycemic control and fetal mutation status. However, the fetal genotype is unknown before birth. We assessed the effects of insulin therapy on the birth weight of children born to mothers with GCK mutations.Objective and hypotheses: The study included 38 patients with GDM due to GCK ...

hrp0089p1-p080 | Diabetes &amp; Insulin P1 | ESPE2018

Successful Transition to Sulfonylurea Therapy in Infant with Neonatal Diabetes, Developmental Delay, Epilepsy (DEND Syndrome) due to F132L ABCC8 Mutation

Tikhonovich Yulia , Zubkova Natalia , Petryaikina Elena , Ribkina Irina , Garyaeva Irina , Tiulpakov Anatoly

Introduction: The heterozygous activating mutations in the KCNJ11 and ABCC8 are the commonest causes of permanent neonatal diabetes mellitus (PNDM). The most severe clinical form of NDM is DEND syndrome. Besides diabetes mellitus such patients show severe developmental delay, hypotonia and therapy-resistant epilepsy. To our knowledge only some cases of DEND syndrome due to ABCC8 mutations are sulfonylurea-responsive. Here we report case of DEND syndrome due t...

hrp0086p1-p696 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Variable Phenotype and Genetic Findings in a Cohort of Patients with Pseudohypoparathyroidism

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Tozliyan Elena , Dedov Ivan , Peterkova Valentina

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

hrp0086p1-p905 | Thyroid P1 | ESPE2016

Association of CTLA4, PADI4 and FTO Polymorphisms with Autoimmune Thyroid Diseases in Male Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...