hrp0086p1-p900 | Thyroid P1 | ESPE2016

Meta-analysis of Children with Multiple Endocrine Neoplasia (MEN) Type 2A from 1995-2014: Impact of RET Mutation Screening on Age at Thyroidectomy and Frequency of Metastatic Disease

Burckhardt Marie-Anne , Zumsteg Urs , Szinnai Gabor

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

hrp0092p1-29 | Diabetes and Insulin | ESPE2019

What Hypoglycemia Does to the Heart: Impact of Nocturnal Hypoglycemia on Cardiac Repolarization in Diabetic Children

Bachmann Sara , Auderset Anne , Zumsteg Urs , Szinnai Gabor , Donner Birgit

Background: Hypoglycemia is the most common and most feared complication of insulin treated diabetes. Though mostly asymptomatic, nocturnal hypoglycemia can be fatal in rare cases: sudden nocturnal death is more frequent in diabetic patients than in others. It is postulated that hypoglycemia related QTc prolongation contributes to cardiac arrhythmia and can lead to dead in bed.Objective: To evaluate influence of nocturna...

hrp0082p2-d2-525 | Pituitary (1) | ESPE2014

Challenging Treatment of Gigantism in a Boy with McCune–Albright Syndrome

Hess Melanie , Bachmann Sara , Szinnai Gabor , Zumsteg Urs

Background: McCune┬ľAlbright syndrome (MAS) is a complex disorder characterized by the triad of fibrous dysplasia of multiple bones, café-au-lait skin macules and endocrinopathies.Objective and hypotheses: Long-term treatment of a boy with gigantism due to MAS.Method: Case report.Results: We present the clinical course of a now 14 years old boy with MAS and GH excess, clinical signs of precocious pub...

hrp0084p3-592 | Adrenals | ESPE2015

Atypical Prednisone-Metabolism: Pharmacological Studies in a Boy with Classical Adrenal Hyperplasia and Suspected Malcompliance

Hess Melanie , Derungs Adrian , Zumsteg Urs W , Szinnai Gabor

Background: We present a boy with classical adrenal hyperplasia (CAH) and constantly increased 17-OH-progesterone (17-OH-P) values despite multiple dose adjustments of hydrocortisone up to 18 mg/m2 body surface and addition of fludrocortisone. After puberty, therapy was changed from hydrocortisone to prednisone without improvement of the 17-OH-P values. Non-compliance was suspected as cause of the inadequately controlled CAH. Alternatively, an atypical steroid metab...

hrp0084p3-725 | Diabetes | ESPE2015

Frequent and Prolonged Daytime Hypoglycemia in Diabetic Children Detected by Continuous Glucose Monitoring: A Problem of Hypoglycaemia Unawareness?

Bachmann Sara , Metzger Kerstin , Hess Melanie , Zumsteg Urs

Background: Hypoglycaemia represents a common issue in diabetic children, and the achievement of good metabolic control together with the avoidance of hypoglycemia remains a tightrope walk. As hypoglycaemia is not always recognised, data about hypoglycemia frequency are limited.Aims: We previously reported about nocturnal hypoglycaemia in diabetic children. This study now focusses on the frequency and duration of hypoglycemia at daytime and risk factors ...

hrp0082p2-d3-485 | Hypoglycaemia | ESPE2014

Nocturnal Hypoglycaemia in Diabetic Children: Continuous Glucose Monitoring Reveals More of the Iceberg

Bachmann Sara , Martin Eva , Ritschard Vreni , Hess Melanie , Jockers Katharina , Vuissoz Jean-Marc , Zumsteg Urs

Background: Hypoglycaemia is the most common and threatening complication in diabetic children. Nocturnal hypoglycaemia is mostly unrecognised and asymptomatic, but recurrent mild hypoglycaemia at night can lead to hypoglycaemia unawareness and reduced performance at daytime.Aims: To evaluate frequency and duration of nocturnal hypoglycaemia in type 1 diabetic children and to identify risk factors for such events.Patients/methods: ...

hrp0092fc7.2 | Diabetes and Insulin Session 2 | ESPE2019

Copeptin Kinetics and its Relationship to Osmolality During Rehydration for Diabetic Ketoacidosis in Children: An Observational Study

Burckhardt Marie-Anne , Beglinger Svetlana , Gotta Verena , Renggli Luzia , Bachmann Sara , Hess Melanie , Rentsch Katharina , Koch Gilbert , Zumsteg Urs , Jones Timothy , Pfister Marc , Szinnai Gabor

Background: Copeptin is a surrogate marker for arginine vasopressin (AVP) release in response to hyperosmolal stimuli such as diabetic ketoacidosis (DKA). We aimed to characterize the temporal course (kinetics) of serum osmolality and copeptin during rehydration and insulin therapy in children with type 1 diabetes (T1D) and DKA, and the relationship between both (dynamics).Methods: An observational multi-center study was...

hrp0089p2-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Current Medical Care of Children and Adolescents with Disorders/differences of Sex Development in Switzerland

Sommer Grit , Konrad Daniel , Kuhlmann Beatrice , l'Allemand Dagmar , Phan-Hug Franziska , Hauschild Michael , Schwitzgebel Valerie , Tonella Paolo , Hess Melanie , Zumsteg Urs , Lauber-Biason Anna , Flueck Christa E.

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...

hrp0094fc4.3 | Diabetes | ESPE2021

Aldosterone and pro-atrial natriuretic peptide kinetics in response to rehydration in children with diabetic ketoacidosis

Burckhardt Marie-Anne , Otto Marije , Gotta Verena , Beglinger Svetlana , Bachmann Sara , Hess Melanie , Rentsch Katharina , Koch Gilbert , Davis Elizabeth , Zumsteg Urs , Jones Tim , Pfister Marc , Szinnai Gabor ,

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...