hrp0084p2-453 | Growth | ESPE2015

Cross-Sectional and Longitudinal Follow-Up of Changes in Glucose Metabolism in Prepubertal GH-Treated SGA-Patients: Results of an Unicentric Study

Sydlik Carmen , Bechtold Susanne , Weissenbacher Claudia , Roeb Julia , Buckl Matthias , Putzker Stefanie , Schmidt Heinrich

Background: Several studies show impaired glucose tolerance at a certain number of years after start of growth hormone in SGA-children.Objective and hypotheses: To perform a longitudinal and cross-sectional evaluation of the oGTTs (glucose-insulin-pairs) in prepubertal GH-treated SGA-children and to evaluate if ISI and HOMA are effective surrogates for glucose tolerance and of prognostic value (0–1 year data).Method: In 81 pre...

hrp0084p3-972 | GH & IGF | ESPE2015

Time Trends in Baseline Characteristics (2006–2014) in Short Children with Growth Hormone Deficiency (GHD), Born Small for Gestational Age (SGA) and with Ullrich-Turner Syndrome (TS) Enrolled in Nordinet® International Outcomes Study (IOS) in Germany and Czech Republic

Dorr Helmuth Gunther , Bramswig Jurgen , Meckes-Ferber Stefanie , Pournara Effie , Pedersen Birgitte Tonnes , Snajderova Marta

Background: Early diagnosis of growth disorders and initiation of GH therapy at a younger age improves clinical outcomes.Aims and objectives: To analyse time trends in baseline parameters at GH treatment start (2006 – 2014) in short children with GHD, SGA and TS from Germany and Czech Republic enrolled in NordiNet® IOS (NCT00960128).Method: Baseline data (chronological age, height, weight, BMI, GH dose) from pa...

hrp0094p2-116 | Diabetes and insulin | ESPE2021

Sex differences over two decades for glycaemic control, pump use and insulin dose in patients aged 10-20 years with type 1 diabetes

Boettcher Claudia , Tittel Sascha R. , Meissner Thomas , Gohlke Bettina , Stachow Rainer , Dost Axel , Lanzinger Stefanie ,

Background: Therapy in type 1 diabetes has undergone a fundamental change over the last several decades, especially by the use of technical devices. Another change that took place is the growing awareness of sex differences of all kind, e.g. as influencing factors of metabolic control. Our study aimed to evaluate sex differences over two decades with regard to changes in glycaemic control, with regard to trends in insulin pump use and insulin dose. Migration b...

hrp0094p2-195 | Fat, metabolism and obesity | ESPE2021

Assessment of Hyperphagia in Patients with Monogenic Obesity

Zorn Stefanie , von Schnurbein Julia , Schirmer Melanie , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin ,

Introduction: Besides an excessive, early-childhood weight gain, hyperphagia is the key symptom in patients with monogenic obesity. However, the assessment of hyperphagia is still challenging. Here, we applied the hyperphagia questionnaire developed for patients with Prader-Willi-Syndrome (PWS) to assess the severity of hyperphagia in patients with monogenic obesity.Methods: Pediatric patients with biallelic pathogenic l...

hrp0097fc8.6 | Fat, metabolism and obesity 2 | ESPE2023

Liraglutide treatment in adolescents with extreme obesity - Effects on weight loss in the first 9 months under real-life conditions

Schirmer Melanie , Brandt Stephanie , Knupfer Magdalena , Zorn Stefanie , Weihrauch-Blüher Susann , Wabitsch Martin

Introduction: The Glucagon-like Peptide(GLP1)-analogue liraglutide is the first drug approved for the treatment of obesity in adolescents in Europe. While clinically relevant effects of liraglutide treatment in adolescents with obesity had been shown in a phase III study, there are no reports about the use under real-life conditions in these patients. Our aim was to report the effect of treatment with liraglutide on body weight loss in a cohort of adolescents ...

hrp0097p1-285 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Severe Neonatal Donohue Syndrome: Extreme Hyperinsulinemia, Progressive Hypertrophic Cardiomyopathy (HCM) and Failure to Thrive

Lämmer Constanze , Langer Johanna , de Potzolli Brigitte , Liebl Stefanie , M.K. Völkl Thomas

Introduction: Donohue syndrome (DS) is presenting as the most severe form of insulin resistance. Most of the patients are dying within the first two years of life. As potential treatment has been described the administration of rhIGF1 (Mecasermin) to stimulate the pathway of insulin-like action. An improved metabolic control was reported with continuous subcutaneous administration of rhIGF1 instead of twice daily injections [Plamper 2018].<p class="abstext...

hrp0095p1-16 | Adrenals and HPA Axis | ESPE2022

Long-term follow-up of three male siblings with a novel NNT pathogenic variant causing primary adrenal insufficiency

Kotnik Primoz , Krasovec Tjasa , Sikonja Jaka , Zerjav Tansek Mojca , Debeljak Marusa , Ilovar Sasa , Trebusak Podkrajsek Katarina , Bertok Sara , Tesovnik Tine , Kovac Jernej , Suput Omladic Jasna , F Hartmann Michaela , A Wudy Stefan , Avbelj Stefanija Magdalena , Battelino Tadej , Groselj Urh

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

hrp0086p1-p552 | Perinatal Endocrinology P1 | ESPE2016

Congenital Adrenal Hyperplasia Newborn Screening: Improving the Effectiveness of the Neonatal 17OH-Progesterone and Serum Confirmatory Tests

Carvalho Daniel , Hayashi Giselle , Miranda Mirela , Valassi Helena , Alves Atecla , Rodrigues Andresa , Gomes Larissa , Madureira Guiomar , Mendonca Berenice , Bachega Tania

Background: Main concerns of Congenital Adrenal Hyperplasia Newborn Screening (CAH-NBS) are the high false-positive results (FPR) rate, low positive predictive value (PPV) and heterogeneity of confirmatory tests. Considering the CAH-NBS implementation in our country, our.Objectives: Objectives are to optimize the Neonatal 17OH-Progesterone (N17OHP) cutoffs and to evaluate the best serum confirmatory test.Methods: 473 983 newborns w...

hrp0095p1-473 | Fat, Metabolism and Obesity | ESPE2022

Prevalence and determinants of hyperuricemia in a Belgian multi-ethnic inner-city population of overweight/obese children and adolescents

Nauwynck Elise , Vanbesien Jesse , Staels Willem , Ryckx Sofie , Verheyden Stefanie , Rutteman Bart , Weets Ilse , De Schepper Jean , Gies Inge

Background/ Aims: Hyperuricemia (HU) is a frequent finding in childhood obesity, ranging between 12 and 40%, and associates to a variable extent with different components of the metabolic syndrome (MS). In this study, the effect of gender, (a Belgian native vs a non-Belgian native) descent and degree of general and central adiposity on serum uric acid (SUA) and the prevalence of HU was investigated in a multi-ethnic population of overweight/obese children and ...

hrp0089p2-p309 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

MKRN3 Gene Mutations in a Cohort of Patients with Central Precocious Puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Jančevska Aleksandra , Zdravković Vera , Jesić Maja , Vuković Rade , Stanković Sandra , Todorović Sladana , Hovnik Tinka , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...