hrp0082fc12.3 | Obesity | ESPE2014

Increased Resting Energy Expenditure in Girls with Turner Syndrome

Binder Gerhard , Frank Laura , Blumenstock Gunnar , Schweizer Roland

Background: There is no knowledge of the energy metabolism in the presence of X chromosome aneuploidy or structural aberrations. Recently, an abnormal muscle metabolism was observed in girls with Turner syndrome (TS).Objective and Hypotheses: Resting energy expenditure was prospectively estimated by indirect spirometry in 92 short prepubertal girls at the start of GH therapy.Method: The diagnoses were TS (n=23), GH deficie...

hrp0082p2-d2-433 | Growth Hormone (1) | ESPE2014

Comparison of Measured Lean Body Mass (LBMDXA) and Estimated LBMBIA in Children with GH Deficiency

Schweizer Roland , Ziegler Julian , Frank Laura , Binder Gerhard

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...

hrp0097rfc13.2 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Arginine-stimulated copeptin is independent of GH secretion status

Binder Gerhard , Weber Karin , Peter Andreas , Schweizer Roland

Background: Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide from the posterior pituitary. Its stability makes it a perfect candidate for the endocrine approach in the diagnosis of AVP deficiency. Arginine-stimulated copeptin is a possible alternative for the water deprivation test. We wondered whether basal and stimulated copeptin secretion is related to growth hormone secretion status or independent of it.<p class="abstext...

hrp0092fc6.5 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

No Change in Bone Density During 6 Months Off GH in Adolescents with Severe GHD at Near-Adult Height

Schweizer Roland , Donner Julia , Becker Bettina , Bauer Jana Leonie , Binder Gerhard

Objective: Re-testing of childhood-onset GHD needs discontinuation of GH treatment at near-adult height. We recently reported significant changes of body composition as a consequence of severe GHD during this time period.Aim: Does a 6 month interruption of GH treatment decrease bone quality significantly in patients with severe GHD of adolescence?Patients and Methods: In 90 patient...

hrp0097rfc12.6 | Thyroid | ESPE2023

Phenylbutyrate treatment of three patients with Monocarboxylate Transporter 8 deficiency

Zung Amnon , Schreiner Felix , Vollbach Heike , Schweizer Ulrich , Banne Ehud , Braun Doreen

Background: Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disease that leads to severe global developmental delay. Thyroid hormone (TH) profile is characterized by high T3 and low T4 levels, with normal or elevated TSH. Recent studies have shown that the chemical chaperone phenylbutyrate (PB) restored mutant MCT8 function and increased TH content in a patient-derived cell model, making it a potential treatment for MCT8 deficiency.<p cla...

hrp0097p1-240 | Diabetes and Insulin | ESPE2023

Age differences in the distribution of diabetes-specific antibodies in children and adolescents with type 1 diabetes mellitus

Schweizer Roland , Mayer David , Bung Julia , Liebrich Franziska , Neu Andreas , Ziegler Julian

Background: The assignment to type 1 diabetes mellitus (T1DM) can be confirmed by the determination of diabetes-specific autoantibodies. Five different antibodies can be determined. The determination of several antibodies is more expensive than the determination of a single antibody. In times of scarce resources, the sequential determination of antibodies could save costs. The aim of this study was to determine the frequency of antibodies and their age and gen...

hrp0094p1-151 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Duration of Fasting Studies Required to Demonstrate a Cure for Patients with Focal Congenital Hyperinsulinism.

Truong Lisa , Reynolds Courtney , Thornton Paul S ,

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...

hrp0095p1-444 | Diabetes and Insulin | ESPE2022

Influence of Family Status and Living Circumstances on Metabolic Control in Patients with Type 1 Diabetes

Schweizer Roland , Friz Silas , Hayn Clara , Lösch-Binder Martina , Uber Julia , Ziegler Julian , Liebrich Frankziska , Neu Andreas

Object and Aim: The quality of metabolism in type 1 diabetes depends on different external factors, e.g. the circumstances of living of a patient. We investigated how far the family status, living situation or own children have influence on metabolic control in patients who were transferred to adult care after long-term care in pediatric diabetology.Patients and Methods: From 1998 until 2019 we annually sent a questionna...

hrp0095p2-146 | GH and IGFs | ESPE2022

GH responsiveness and IGF1 P2 promotor methylation

Apel Anja , I. Iliev Daniel , Urban Christina , Weber Karin , Schweizer Roland , Blumenstock Gunnar , Pasche Sarah , Nieratschker Vanessa , Binder Gerhard

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

hrp0095p2-307 | Late Breaking | ESPE2022

Hypoglycemia as a result of skewed thiopurine metabolism in two pediatric patients

Seong Clara , Giordano Lisa , Seyboth Brian , Minutti Carla

Introduction: 6 Mercaptopurine (6MP) is a cornerstone of maintenance therapy in pediatric acute lymphoblastic leukemia (ALL). Fasting hypoglycemia is a rare side effect of 6MP therapy that has been observed in children being treated for ALL. We present two pediatric patients who developed symptomatic, fasting hypoglycemia during maintenance therapy.Case Description: A 7-year-old male with standard risk B ALL receiving ma...