ESPE Abstracts

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

We introduce the ReTRIACt Trial (NCT05579327) of tiratricol (Triac) for MCT8-deficiency, a rare X-linked disease resulting from disordered thyroid hormone transport and characterized by profound neurodevelopmental delay and features of chronic peripheral thyrotoxicosis. The ReTRIACt Trial aims to verify the effects of tiratricol observed in previous studies. It is a double-blind, randomized, multicenter, placebo-controlled study to evaluate the effects of tiratricol discontinu...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

Background: Prader-Willi Syndrome (PWS), due to loss of paternal gene expression on chromosome 15q11.2-13, is characterized by hypotonia, hypothalamic-pituitary dysregulation, abnormal respiratory drive, and hyperphagia. GH, often started in infancy, improves tone, body composition, and height. Concerns about sudden death in children with PWS started on GH, hypothesized secondary to worsening obstructive sleep apnea (OSA) from adenotonsillar hypertrophy, resulted in guidelines...

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

Introduction: Obesity and the metabolic syndrome (MetS) are linked to increased risk for endothelial dysfunction which is considered as the first step in the progression of cardiovascular disease. Fibroblast growth factor 21 (FGF21) is a protein with known effects on various metabolic pathways. In adults, the circulating blood levels of FGF21 have been associated with parameters of lipid/carbohydrate metabolism, and FGF21 is known to be increased in obesity. T...

Background: Sclerostin is an inhibitor of the Wnt/b-catenin bone metabolic pathway. Increased sclerostin levels and reduced bone mineral density (BMD) have been documented in adult patients with diabetes mellitus (DM), predominantly in those with T2DM. No relevant data exist on childhood T1DM.Objective and hypotheses: Our aim was to study plasma sclerostin concentration in children and adolescents with T1DM and controls and to correlate sclerostin levels...

Background: Several bone metabolic pathways seem to be disrupted in patients with type 1 diabetes mellitus (T1DM), leading to reduced bone mass.Objective and hypotheses: Our aim was to study bone metabolism markers in children and adolescents with T1DM and their correlation with bone mineral density (BMD).Method: We evaluated 40 patients (mean±S.D. age 13.04±3.53 years, mean±S.D. T1DM du...

Background: Disruption of many bone metabolic pathways and reduced bone mass are associated with diabetes mellitus. Increased fracture risk and elevated Dickkopf-1 and sclerostin levels, which are inhibitors of Wnt/β-catenin pathway, have been found in adult T2DM patients, but no relevant data exist on childhood T1DM.Objective and hypotheses: We aimed at studying plasma Dickkopf-1 and sclerostin concentration in children and adolescents with T1DM an...

In Belgium, neonatal TSH screening for congenital hypothyroidism has been performed between day 3 and 5 of life since the late seventies. In January 2015, a policy of early discharge of healthy neonates was implemented so that the neonatal screening strategy had to be adapted. Between January 2015 and September 2019, dried blood spot sampling was mostly collected at home AFTER discharge at 72 h of life (Newborn Screening Strategy 1 (NBS1)). After October 2019, sampling was mos...