hrp0092t12 | Top 20 Poster | ESPE2019

The First Description of Large Pathogenic Deletion in ACAN Gene and Additional Cases with Novel Pathogenic ACAN Variants

Stavber Lana , Hovnik Tinka , Avbelj Stefanija Magdalena , Kotnik Primož , Bertok Sara , Lovrečic Luca , Kovac Jernej , Battelino Tadej

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

hrp0092p1-113 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Delayed Puberty in A 16-Year-Old Male Associated with Gamma Aminobutyric Acid Capsule Supplements

Blackburn James , Senniappan Senthil , Ahmed Syed Harris

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...

hrp0092p1-144 | Thyroid | ESPE2019

Investigation of Iodine Deficiency in the North of Siberia

Osokina Irina

Introduction: Siberia traditionally belonged to iodine-deficient regions. Cessation of iodine prevention in the 1990-s promoted the increase of iodine deficiency disorders (IDD) in Siberia. For iodine prophylaxis now is used iodized salt, and iodine preparations.The Aim: To estimate the iodine deficiency, the prevalence of IDD and the effectiveness of iodine prophylaxis in the North of Krasnoyarsk territory.<p class=...

hrp0092p1-166 | Adrenals and HPA Axis (1) | ESPE2019

Cortisol levels in glucagon stimulation tests in children evaluating for short stature: clinical and laboratorial correlations

Maliachova Olga , Triantafyllou Panagiota , Slavakis Aris , Dimitriadou Meropi , Christoforidis Athanasios

Background: Glucagon stimulation test (GST) is used to assess growth hormone (GH) and cortisol reserves in children being investigated for GH deficiency, as a small percentage of children with idiopathic GH deficiency can also exhibit deficiency in the adrenocorticotrophic hormone (ACTH)-cortisol axis. However, the extent of normal cortisol response after glucagon stimulation and its associations with clinical and laboratory parameters have not been thoroughly...

hrp0092p1-308 | Diabetes and Insulin (2) | ESPE2019

ABCC8 MODY in an Obese Adolescent Misdiagnosed with Type 2 Diabetes

Filibeli Berna Eroglu , Çatli Gönül , Manyas Hayrullah , Ayranci Ilkay , Kaya Özge Özer , Dündar Bumin

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

hrp0092p1-362 | GH and IGFs (2) | ESPE2019

Sequencing Approach to Identify Candidate Genes Involved in Short Stature

Formicola Daniela , Pagliazzi Angelica , Peluso Francesca , Cardinale Antonella , Capasso Mario , Iolascon Achille , Tiberi Lucia , Vergani Debora , Vanderwert Fiorenza Irushani , Ricci Franco , Giglio Sabrina , Stagi Stefano

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

hrp0092lb-19 | Late Breaking Posters | ESPE2019

CDX2 Polymorphism of VDR Gene and Lipid Profile in Patients Treated for Acute Lymphoblastic Leukemia During Childhood

Wysoczanska-Klaczynska Anna , Hetman Marta , Placzkowska Sylwia , Laczmanska Izabela , Slezak Ryszard , Barczynski Edwin , Barg Ewa

Introduction: Vitamin D activity is controlled by its receptor (VDR). Increased risk of obesity and metabolic disturbances among certain VDR alleles has been proven. This study was conducted to assess the association between Cdx2 (rs11568820) polymorphism of VDR gene (genotypes: AG, GG) and genetic susceptibility to components of the lipid profile in survivors of acute lymphoblastic leukemia (ALL) treated during childhood.<stron...

hrp0092p2-89 | Diabetes and Insulin | ESPE2019

The Prevalence of Chronic Kidney Disease in Children and Adolescents with Type 1 Diabetes Mellitus in The Republic of Uzbekistan

Rakhimova Gulnara , Sadikova Akidahon

Chronic kidney disease (CKD) is one of the most significant medical and socio-economic problems of our time.Purpose of the Research: To study the prevalence of chronic kidney disease in children and adolescents with type 1 diabetes in Uzbekistan.Materials and Methods: For conducting epidemiological studies there were examined children and adolescents of type 1 diabetes. Epidemiological data were st...

hrp0092p2-117 | Fat, Metabolism and Obesity | ESPE2019

Trends in Childhood Obesity, Underweight and Short Stature Among Urban School Children in Romania

Pop Raluca-Monica , Neagu Nicolae , Pascanu Ionela

Background: Childhood adolescence overweight and obesity are increasing in Romania, but limited information is available on their current trends.Aim: the current study aimed to analyze the trend in prevalence of weight disturbances and stunting in the past 5 years in school aged children from the Transylvania region in Romania.Material and Methods: Two cross-sectional data sets fro...

hrp0092p2-201 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Papillary Thyroid Cancer in a 17-Years Old Girl with a Late-Diagnosed Turner Syndrome

Pankratova Maria , Brovin Dmitriy , Kareva Maria

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...