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....

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

hrp0097p1-430 | Diabetes and Insulin | ESPE2023

What do they eat? Calculation of carbohydrate, fat and protein intake in children with type 1 diabetes (T1D) by use of an image based analysis by smartphone.

Bachmann Sara , Steiner Gioia , Claude Fabien , Hess Melanie , Szinnai Gabor , Burckhardt Marie-Anne

Background: Carbohydrate counting is essential in diabetes management to match insulin doses to carbohydrate intake. Though recommendations concerning macronutritient composition exist (ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional management in children and adolescents with diabetes), fat and protein intake is usually not calculated. Therefore, little is known if these recommendations are followed. Lower carbohydrate intake is reported to be ...

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...

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...

hrp0097p1-31 | Diabetes and Insulin | ESPE2023

Metabolic trajectories during treatment of diabetic ketoacidosis described by breath analysis

Awchi Mo , Dev Singh Kapil , Bachmann-Brenner Sara , Burckhardt Marie-Anne , Hess Melanie , Zumsteg Urs , Zeng Jiafa , N. Datta Alexandre , Frey Urs , Szinnai Gabor , Sinues Pablo

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

hrp0094mte2 | Diagnosis and management of a child with pituitary adenoma | ESPE2021

Diagnosis and management of a child with pituitary adenoma

Skovsager Andersen Marianne ,

A prolactinoma is the most common pituitary adenoma, but a pituitary adenoma is rarely diagnosed in children. Corticotropinomas and somatotropinomas are observed, whereas clinically non-functioning pituitary adenomas, TSH-adenomas and gonadotroph adenomas are very rare in children; a minor percentage of pituitary tumours are aggressive. Genetic cause and syndromic disease are more often seen in children and adolescents with a pituitary adenoma compared to adults, and it is nec...

hrp0084fc8.5 | Obesity - Basic | ESPE2015

Adipocytokines in Placenta and Cord Blood in Relation to Maternal Obesity, and Foetal and Postnatal Growth of the Child

Allbrand Marianne , AEman Jan , Lodefalk Maria

Background: The nutritional and hormonal state in utero may be a link between maternal obesity and obesity in the offspring. The gene expression in placentae in pregnancies complicated by diabetes is reduced for leptin, but increased for ghrelin. It is not known whether these genesÂ’ expressions in placentae are altered in maternal obesity.Objectives and hypotheses: To compare obese and normal-weight women and their children concerning gene ...

hrp0095p1-431 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Kenny-Caffey Type 2 syndrome (KCT2S) as a rare cause of hypoparathyroidism causing neonatal seizures

Granzotto Marguerite , Weitzel Christina , Scalais Emmanuel , Becker Marianne

We report a male patient born small for gestational age (birth weight 2090 g, -2.97 SDS; birth length 43.5 cm, -3.37 SDS), with dysmorphic features (triangular face, low-set, posteriorly rotated ears, pectus excavatum, large anterior fontanel) who presented with seizures at the age of 4 weeks. The child was treated with antiepileptic drugs (Levetiracetam, Midazolam, Phenobarbital, carbamazepine) for 1 year until a severe hypocalcemia (Calcium 6.4 mg/dl, ionised calcium 0.78 mm...