ESPE Abstracts

Background: The use of antipsychotic medication in medical practice is increasing in Europe. Antipsychotics have serious adverse effects like weight gain.Objective: Aim was to explore metabolic risk factors and glycaemic control in youths with type 1 diabetes treated with typical or atypical antipsychotics.Design and methods: Data of children, adolescents, and young adults with type 1 diabetes up to the age of 25 years and with dia...

We are in an exciting and interesting time, when pediatricians and reproductive endocrinologists across the globe rise to the challenge of providing fertility services for people with a history of gonadotoxic diseases. Indeed, developments in numerous medical fields have improved long-term survival rates for many diseases that strike children and young adults. However, to survive is no longer enough. The emphasis is shifting, to enable people to live a life as normal as possib...

Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is very rare in pediatrics. Contributing factors include: Sudden change is thyroid levels, cerebral vasculitis,endothelial inflammation or immune complex deposition, global cerebral hypoperfusion, as well as cerebral tissue-specific autoimmunity.The case: A 16-year-old female was diagnosed with hyperthyroidism and treated with Radio Iodine Ablation (RIA). Her total T4 level was...

Background: Analysis of steroids by gas chromatography-mass spectrometry (GC-MS) defines a subject’s steroidal fingerprint. Here, we compare the steroidal fingerprints of obese children with or without liver disease to identify the ‘steroid metabolomic signature’ of childhood non-alcoholic fatty liver disease.Methods: Urinary samples of 85 children (43 girls) age 8.5–18.0 with obesity (BMI >97%) were quantified for 31 steroid meta...

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

Background: The long QT syndrome is the most frequent a well-established causative factor, among cardiac channelopathies, for the sudden infant death syndrome (SIDS). It accounts for approximately 12% of the cases. The non-transcriptional regulation of slowly activating delayed rectifier K+ currents and suppression of L-type Ca2+ currents by testosterone is a regulatory mechanism of cardiac repolarization that potentially contributes to the control...

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...