hrp0092fc1.3 | Diabetes and Insulin Session 1 | ESPE2019

Next Generation Sequencing in Greek MODY Patients Increases Diagnostic Accuracy and Reveals a High Percentage of MODY12 Cases

Tatsi Elizabeth-Barbara , Sertedaki Amalia , Skorilas Andreas , Chrousos George , Kanaka-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

hrp0092p2-20 | Adrenals and HPA Axis | ESPE2019

Polydipsia, Hyponatremia and a Biochemical Profile of Aldosterone Synthase Deficiency

Reinauer Christina , Förtsch Katharina , Meissner Thomas , Mayatepek Ertan , Holterhus Paul Martin , Kummer Sebastian

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

hrp0089rfc14.1 | Multisystem Endocrine Disorders | ESPE2018

Psychometric and Psycho-social Profile of Children and Adolescent Survivors of Pediatric Cancer

Bacopoulou Flora , Mavrea Kalliopi , Adamaki Christina , Efthymiou Vasiliki , Katsibardi Katerina , Kattamis Antonis

Objective: The aim of this study was to compare the psychometric and psychosocial profile of children and adolescents survivors of pediatric cancer to that of healthy controls.Methods: Children and adolescents survivors of pediatric cancer, aged 7–17 years, who attended the Hematology-Oncology Unit of the First Department of Pediatrics, and healthy controls who visited the Centre for Adolescent Medicine and UNESCO Chair on Adolescent Health Care of ...

hrp0089p2-p024 | Adrenals and HPA Axis P2 | ESPE2018

The Effectiveness of a Stress-Management Intervention Program in Behavioral Parameters and Hair Cortisol Concentrations in Children with Attention Deficit Hyperactivity Disorder

Kapogiannis August , Makris Gerasimos , Mantzou Aimilia , Bachourou Theodora , Darviri Christina , Chrousos George , Pervanidou Panagiota

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurodevelopmental condition in school-aged children, with a prevalence of 5–8%. In individuals with ADHD, there is an attenuated biologic stress response to challenging situations.Objective: This study aimed at evaluating the effectiveness of an 8-week stress management program, comprising self-applied cognitive exercises, on stress perception and anxiety symptoms, sleep...

hrp0089p2-p028 | Adrenals and HPA Axis P2 | ESPE2018

A Rare Case of ACTH-Independent Cushing’s Syndrome due to Bilateral Micronodular Adrenal Hyperplasia and Myoclonic Dystonia

Vasilakis Ioannis-Anargyros , Kazakou Paraskevi , Kogia Christina , Karaflou Maria , Chrousos George , Charmandari Evangelia

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

hrp0089p1-p061 | Diabetes & Insulin P1 | ESPE2018

The Prevalence of Autonomic and Peripheral Neuropathy in Children and Adolescents with Type 1 Diabetic Mellitus (T1D) and Its Association with the Homozygous Status of Z-2/Z-2 Polymorphism of the Aldose Reductase Gene (AKR1B1) in the Polyol Pathway

Kallinikou Dimitra , Tsentidis Charalampos , Kekou Kyriaki , Louraki Maria , Kanaka-Gantenbein Christina , Kanavakis Emmanouil , Karavanaki Kyriaki

Introduction: Diabetic neuropathy (DN) significantly reduces patients’ quality of life and increases cardiovascular death risk. However, it is the least recognized complication of diabetes. Z-2/Z-2 polymorphism of the aldose reductase (AKP1B1) gene increases the expression of the relative enzyme and is likely to contribute to DN expression.Purpose: To study the prevalence of DN in T1D children and adolescents and its associations with the h...

hrp0089p2-p090 | Diabetes & Insulin P2 | ESPE2018

An Unusual Case of an Exclusively Vegan Child with Diabetic Acidosis

Xatzipsalti Maria , Konstantakopoulos Sotiris , Kourti Afroditi , Anastasoudi Maria , Fafoula Olga , Limperatou Christina , Stamogiannou Lela , Vazeou Andriani

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...

hrp0089p3-p106 | Diabetes & Insulin P3 | ESPE2018

Reversibility of Early Acute Diabetic Neuropathy (DN) in Adolescents with Type 1 Diabetes Mellitus (T1D)

Louraki Maria , Kokotis Panagiotis , Katsalouli Marina , Kallinikou Dimitra , Kanaka-Gantenbein Christina , Karavanaki Kyriaki

Introduction: Diabetic neuropathy (DN) is a common complication of type 1 diabetes mellitus (T1D) with significant morbidity in adulthood. The association between DN with long term poor metabolic control is well established. However, acute painful DN may present early in the course of the disease and may be reversible.Case presentation: A female adolescent, aged 12 years, with a T1D duration of 9 months, presented with acute metabolic derrangement (HbA1c...

hrp0089p1-p096 | Fat, Metabolism and Obesity P1 | ESPE2018

Kisspeptin and the Genetic Obesidome

Geronikolou Styliani , Pavlopoulou Athanassia , Albanopoulos Konstantinos , Cokkinos Dennis , Kanaka-Gantenbein Christina , Chrousos George

Background: Kisspeptin (encoded by the KISS1 gene in humans), originally described as a puberty onset regulating neuropeptide, is involved in many homeostatic systems, including nutrition status, glucose homeostasis, locomotor activity, etc. Thus, in today’s obesity epidemic, kisspeptin is gaining increasing interest as a research target.Aim: To construct an updated interactome of genetic determinants of obesity, including the kisspeptin si...

hrp0089p2-p155 | Fat, Metabolism and Obesity P2 | ESPE2018

Associations between Body Fat Mass and Internalizing and Externalizing Behaviors and Anxiety in Children and Adolescents

Christaki Eirini , Bastaki Despoina , Valavani Eleni , Kanaka-Gantenbein Christina , Bosciero Dario , Chrousos George , Pervanidou Panagiota

Introduction: Body composition analysis is a painless, bloodless and highly informative method of assessing health indicators that can be used extensively in the pediatric population. This is particularly important granted that the prevalence of childhood obesity has been increasing at a fast pace worldwide. Increased adiposity in children and adolescents is an important issue for children’s growth and psychologic development. Assessing the psychosocial status of children...