hrp0097p1-489 | GH and IGFs | ESPE2023

Effects of GH therapy in patients with GHD (Growth Hormone Deficiency) on glucose homeostasis: results of a 10-years follow-up

Vasaturo Sara , Illiano Sara , Mirra Rita , Lorello Paola , Apuzzo Diletta , Di Mase Raffaella , Capalbo Donatella , Salerno Mariacarolina

Objectives: Among adverse effects of GH, a particular attention should be given to glucose homeostasis. The aim of the study was evaluate the effect of GH therapy on glucose homeostasis in children with GHD after 10 years of treatment.Methods: 30 patients (8 M/22 F, age 7.00 ± 2.61 years) with GHD at diagnosis and 30 healthy children comparable to patients for age, sex and BMI were enrolled. Glucose, insulin, HOMA-IR ...

hrp0097p1-532 | Multisystem Endocrine Disorders | ESPE2023

Prevalence of endocrinopathies in a cohort of patients with Rett syndrome: a double center observational study

Pepe Giorgia , Stagi Stefano , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Bossowski Filip , Skorupska Magdalena , Aversa Tommaso , Wasniewska Malgorzata

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

hrp0082p3-d1-911 | Pituitary | ESPE2014

Primary Polydipsia in a Family with Mutation in the AVP Gene and Proven Central Diabetes Insipidus

Casey Ruth , Hannon Anne Marie , Joyce Caroline , O'Halloran Domhnall , O'Connell Susan

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

hrp0089p2-p035 | Adrenals and HPA Axis P2 | ESPE2018

Pseudopubertas Praecox in a 4 Year Old Boy with Bilateral Atypical Adrenocortical Adenomas

Brichta Corinna , Wurm Michael , Hodde Franka , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

hrp0082p1-d1-144 | Growth | ESPE2014

Genetics of Growth Failure in Small for Gestational Age Children

Keppler Romy , van der Werft-Grohmann Natascha , Schwab Karl Otfried , Lausch Ekkehart

Background: Small for gestational age (SGA), defined as ≤−2.0 SDS birth length or weight, is a condition seen in up to 3% of all newborn. Most SGA children catch up height in postnatal life. In a significant number (~10%), however, height remains below the third centile. Recombinant GH therapy is indicated when growth failure continues to 4 years of age. The pathophysiological basis of SGA is complex: monogenic disorders and/or fetal programming by environmental fa...

hrp0082p3-d1-817 | Growth | ESPE2014

Increased Required Dose of GH in Children with Inborn Panhypopituitarism

Wurm Michael , van der Werf-Grohmann Natascha , Krause Alexandra , Roemer-Pergher Cordula , Schwab Karl Otfried

Introduction: Standard dose for GH deficient children is 0.025 mg/kg per day given subcutaneously once daily. Inborn panhypopituitarism is a special subset of GH deficiency. Its management is difficult because several hormones need to be replaced. We present three patients with perinatal onset panhypopituitarism.Case reports: Case 1 is a 7-year-old boy who had hypoglycaemic seizure with reanimation due to circulatory arrest shortly after birth. Panhypopi...

hrp0084p3-696 | Diabetes | ESPE2015

Influence of hypoglycemic episodes on attention and behavioural abnormalities in diabetic children

Wurm Michael , Niebuhr Vera , Hallermann Kristiane , Krause Alexandra , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

hrp0097p2-108 | GH and IGFs | ESPE2023

Acromegaly in a 14-year-old girl with pituitary adenoma

Fingerhut Karin , Krebs Andreas , Otfried Schwab Karl , Spiekerkötter Ute , van der Werf Natascha

Introduction: Acromegaly is a rare disorder, developed by overproduction of growth hormone (GH) and insulin-growth factor 1 (IGF-1), in most cases based on a pituitary adenoma. The increased IGF-1 and GH levels lead to the growth of acres and organs as well as metabolic changes. When manifesting before epiphyseal closure, a giant growth develops.Case Report: A Ukrainian girl presented at the age of 14 years with enlargem...

hrp0095fc8.4 | Diabetes and Insulin | ESPE2022

Unravelling environmental and genetic determinants of glycaemic control in children and young adults with Type 1 Diabetes

Robi Antonietta , Catamo Eulalia , Tinti Davide , Dovc Klemen , Tonno Raffaella Di , Barbi Egidio , Bonfanti Riccardo , Franceschi Roberto , Rabbone Ivana , Battelino Tadej , Tornese Gianluca

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

hrp0095fc11.2 | Late Breaking | ESPE2022

The influence of Non-Alcoholic Fatty Liver Disease and of its genetics on thyroid function in children with obesity

Di Sessa Anna , Cembalo Sambiase Sanseverino Nicoletta , Maddalena Marrapodi Maria , Rosaria Umano Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...