hrp0086p1-p18 | Adrenal P1 | ESPE2016

Adult Individuals with Classic Congenital Adrenal Hyperplasia Exhibit Deficits in Executive Functions

Karlsson Leif , Zimmermann Marius , Wallensteen Lena , Barbaro Michela , Nordenstrom Anna , Hirvikoski Tatja , Lajic Svetlana

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...

hrp0084fc-lb-4 | Late Breaking Abstracts | ESPE2015

Long-Term Cognitive Effects of Antenatal Dexamethasone Treatment in Swedish Adolescents with and without CAH

Wallensteen Lena , Zimmermann Marius , Sandberg Malin Thomsen , Nordenstrom Anna , Hirviskoski Tatja , Lajic Svetlana

Background: In order to prevent virilization in CAH female fetuses, physicians have during the last thirty years used the synthetic glucocorticoid dexamethasone (DEX) as a therapeutic approach administered during early pregnancy. Due to the fact that treatment has to be started before the genotype of the fetus is known, seven out of eight treated fetuses will be subjected to high doses of DEX during early embryogenesis without benefit. Therefore, negative side effects cannot b...

hrp0094p1-7 | Adrenal A | ESPE2021

Brain activity during working memory in congenital adrenal hyperplasia

van’t Westeinde Annelies , Zimmermann Marius , Messina Valeria , Karlsson Leif , Padilla Nelly , Lajic Svetlana ,

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. However, this long-term GC-treatment could change the developmental trajectory of the brain and predispose patients to problems with cognition and mood regulation. Previously, we have found impairments in working memory in patients with CAH, as well as alterations in brain structure in regions of the central executive network (CEN). These changes could be associated wit...

hrp0094p2-7 | Adrenals and HPA Axis | ESPE2021

Emotion regulation in congenital adrenal hyperplasia

van’t Westeinde Annelies , Zimmermann Marius , Savic Ivanka , Lajic Svetlana ,

Objective: Oral hydrocortisone medication for Congenital Adrenal Hyperplasia (CAH) could lead to suboptimal blood cortisol levels throughout the day. In addition, the HPA-axis is rendered inflexible in patients. Cortisol is crucially involved in the stress response as well as in generating and regulating emotional responses to stimuli. Sub-optimal cortisol levels, in combination with a less flexible HPA-axis, could therefore lead to problems with emotion regul...

hrp0084p3-918 | GH &amp; IGF | ESPE2015

Are Short Children with Low GH Secretion Metabolically Different from Children of Normal Height?

Tidblad Anders , Ekstrom Klas , Ritzen Martin , Marcus Claude

Background: Severe GH deficiency (GHD) leads to several metabolic effects in the body ranging from abnormal body composition to biochemical disturbances such as high insulin sensitivity. However, less is known regarding these parameters in children with a milder deficiency in GH secretion.Objective and hypotheses: To analyse if short children with a relatively low GH secretion differ metabolically from healthy children of normal height.<p class="abst...

hrp0092p2-162 | GH and IGFs | ESPE2019

Metabolic Effects of Growth Hormone Treatment in Short Prepubertal Children: A Double-Blinded Randomized Clinical Trial

Tidblad Anders , Gustafsson Jan , Marcus Claude , Ritzén Martin , Ekström Klas

Objective: Growth hormone (GH) is a central hormone for regulating linear growth during childhood and also highly involved in metabolism of lipids, carbohydrates and protein. However, few studies report on how treatment with GH during childhood influences metabolic parameters. Our aim was to investigate metabolic effects of different doses of GH in short children with GH peak levels in the low normal range.Design: Thirty...

hrp0094p2-198 | Fat, metabolism and obesity | ESPE2021

Successful weight loss and resolution of hepatic fibrosis in a girl with severe obesity

Apperley Louise , Erlandson-Parry Karen , Clarke Ellie , Gait Lucy , Auth Marcus , Senniappan Senthil ,

Introduction: Childhood obesity is continuing to increase worldwide resulting in a rise in the number of individuals with complications secondary to obesity. Non-alcoholic fatty liver disease (NAFLD) is seen in both adult and paediatric populations and if not treated appropriately is potentially life-threatening, as it may progress to advanced fibrosis, cirrhosis or hepatocellular carcinoma. NAFLD has now become the most common indication for liver transplant ...

hrp0082p1-d3-162 | Growth (2) | ESPE2014

Infliximab Improves Growth in Paediatric Crohn’s disease Only if Commenced Early in Puberty or Prior to the Onset of Puberty

Gangadharan Arundoss , Metcalf Joanna , Giri Dinesh , Irving Sharon , Auth Marcus , Venkatesh Krishnappa , Krishnamurthy Balaji , Blair Joanne C , Didi Mohammed

Background: Crohn’s disease is a relapsing systemic inflammatory disorder with inflammatory bowel disease (IBD) due to up-regulation of pro-inflammatory cytokines including TNFα. More than 80% of newly diagnosed children present with growth failure Paediatric gastroenterology units in the UK submit data to the UK IBD database which can be accessed when required. One aim of current treatment protocols is to promote growth. Studies on the use of anti-TNFα antibodi...

hrp0097p2-22 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Hyperinsulinaemic Hypoglycaemia in Term Neonates Without Known Risk Factors Leading to Neurological Damage: A Case Series of 5 Patients From Two Regional Centres in the UK

O'Reilly Freya , Monaghan Marie , Moran Matthew , Gubaeva Diliara , Senniappan Senthil , Likeman Marcus , Giri Dinesh , Amin Sam

Background: Little is known about the prevalence of neonatal hypoglycaemia in the absence of known risk factors, nor its associated neurodevelopmental outcomes. Neurological harm from hyperinsulinism induced hypoglycaemia (HH) may be due to the direct effect of hypoglycaemia as well as its sequelae, such as seizures or apnoeas, leading to secondary insults such as hypoxic brain injury. With our case series we highlight such risks and propose changes to support...

hrp0095p1-86 | Fat, Metabolism and Obesity | ESPE2022

Detailed cardiac phenotyping of obese patients with mutations in the genes POMC and MC4R

Ruck Lisa , Usadel Lea , Krabusch Philipp , Wiegand Susanna , Flück Christa , Kühne Titus , Cone Roger , Litt Michael , Helm Marcus , Kühnen Peter

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...