hrp0097p2-15 | Growth and Syndromes | ESPE2023

Autosomal dominant inherited VUS 3 in the fibrillin 2 gene in a patient with tall stature

Geyrhofer Angelika , Hirtenlehner Sandra , Gencik Martin

Background: The reasons for tall stature, defined as a height above the 97. percentile or above 2SD from the mean, are heterogeneous. Besides non-pathogenic forms like familial tall stature or constitutional advance of growth there are pathogenic forms like obesity, growth hormone excess, hyperthyreoidism, precocious puberty or some genetic disorders and syndromes that need to be concerned.Case Report: We report on a 14 ...

hrp0089p1-p077 | Diabetes & Insulin P1 | ESPE2018

Additional Insulin is Necessary to Prevent Rise in Blood Glucose after Fat-protein-rich Meals in Type 1 Diabetes

Schweizer Roland , Herrlich Susann , Losch-Binder Martina , Glokler Michaela , Heimgartner Magdalena , Liebrich Franziska , Meszner Katja , Muckenhaupt Tina , Schneider Angelika , Ziegler Julian , Neu Andreas

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

hrp0097p1-401 | Adrenals and HPA Axis | ESPE2023

Impact of Newborn Screening for Congenital Adrenal Hyperplasia (CAH) on Adult Height: Data from the CAH Registry of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).

Hoyer-Kuhn Heike , Eckert Alexander , Binder Gerhard , Bonfig Walter , Dübbers Angelika , Mohnike Klaus , Riedl Stefan , Wölfle Joachim , G Dörr Helmut , W Holl Reinhard

Objective: The treatment of children with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a challenge since both undertreatment and overtreatment with glucocorticoids can affect growth. Numerous reports in the literature have shown that the linear growth of individuals with CAH is affected and adult height is compromised. However, most of these data were obtained in the era before CAH newborn screening....

hrp0094p2-338 | Multisystem endocrine disorders | ESPE2021

Diagnostic and Follow-up Problems of Medical Care for Prader-Willi Syndrome Children in Resourse-Limited Settings

Akulevich Natallia , Solntseva Angelica ,

Prader-Willi syndrome (PWS), a multisystem disorder, results of the absence of expression of paternal genes from chromosome 15q11.2-q13; it occurs with the prevalence of 1/10000-1/30000 in different populations. In real clinical practice PWS still remains a challenge for doctors, especially in resource-limited settings. We describe clinical course in 10 pediatric PWS patients (3M; 7F) aged 7,4±3,3 years (1,7÷12,3), all have microdeletion of paternally inherited 15q11....

hrp0092p2-96 | Diabetes and Insulin | ESPE2019

Evaluation of Celiac Disease Antibodies and 25-OH Vitamin D in Type 1 Diabetic Patients

Navasardyan Lusine , Ghubatyan Anna , Arzumanyan Angelina , Gevorgyan Nune , Aghajanova Elena

Background: In diabetic patients vitamin D seems to play a role not only on bone metabolism, but also on many other organs and/or systems, such as lipid profile, cardiovascular system, etc. We decided to evaluate whether the celiac disease antibodies in type 1 diabetic patients have a connection with 25-OH vitamin D status.Materials and Methods: 78 young patients with type 1 diabetes were evaluated with mean age of 14&#1...

hrp0089p1-p035 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Long-term Outcomes of Osteogenesis Imperfecta in the Bisphosphonate Era

Feehan Andrew , Zacharin Margaret , Lim Angelina , Simm Peter

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

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...

hrp0089p3-p182 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Dumping Syndrome in a Neonate with Esophagical Atresia Surgery

Gonzalez Angelica , Jaramillo Carolina , Espejo Jennyfer Monroy

Introduction: Dumping Syndrome (DS) has been recognized as a major complication of Nissen fundoplication in young children. Althougth other causes have been recognized. We describe a children with esophageal atresia who presented with late DS caused by a surgical complication, Dumping and Horner syndrome were diagnosticated after his surgery.Case description: A male newborn with prenatal diagnosis of right Aortic Arch was born by vaginal delivery, radiol...

hrp0086p2-p52 | Adrenal P2 | ESPE2016

Occasional Detection of an Adrenal Incidentaloma in a Female Adolescent Evaluated for Cardiac Arrhythmias

Kotanidou Eleni , Kyrgios Ioannis , Mouzaki Konstantina , Kleisarchaki Angeliki , Koliatos Panagiotis , Galli-Tsinopoulou Assimina

Background: Adrenal incidentalomas(AIs) are adrenal masses discovered occasionally by radiological evaluation in the absence of clinical features of adrenal disease. Clinical evaluation is important in patients with AIs. AIs are bilateral (10–15%); manifest as nonfunctioning cortical adenomas (70–80%), pheochromocytomas (1.1–11%), subclinical Cushing syndrome (5–20%), primary aldosteronism (1–2%), primary adrenocortical carcinomas (<5%) and metasta...

hrp0086p1-p925 | Thyroid P1 | ESPE2016

L-selenomethionine Supplementation in Children and Adolescents with Autoimmune Thyroiditis: Preliminary Results of a Randomized Double-blinded Placebo-controlled Clinical Trial

Kyrgios Ioannis , Dimopoulou Aikaterini , Kotanidou Eleni , Kleisarchaki Angeliki , Mouzaki Konstantina , Galli-Tsinopoulou Assimina

Background: It has already been documented that selenium treatment has beneficial effects in adult patients with autoimmune thyroiditis, especially in those with a higher titer of antibodies and increased inflammatory disease activity.Objective and hypotheses: To investigate whether daily supplementation of organic selenium at a high dose (200 μg in the form of L-selenomethionine) has any effect on the titer of thyroid autoantibodies.<p class="a...