hrp0084p3-1183 | Thyroid | ESPE2015

Effect of Marijuana Use on Thyroid Function and Autoimmunity

Malhotra Sonali , Homel Peter , Motaghedi Roja

Background: Cannabis use has been legalised in four states in USA. However, endocrine effects of marijuana use are largely unknown. Published experiments on animals have suggested that acute cannabis exposure may lead to suppressed thyroid function, but human studies are limited. Of interest, some studies have shown that cannabis has immunomodulatory effects.Objective and hypotheses: We carried out a cross sectional analysis of data by National Health an...

hrp0094p2-23 | Adrenals and HPA Axis | ESPE2021

Serum cortisol and cortisone, and urinary cortisol, cortisone, and tetrahydro-metabolites concentrations in school-aged children born very preterm adequate for gestational age

Dominguez-Menendez Gonzalo , Ochoa-Molina Maria Fernanda , Poggi Mayorga Helena , Allende Sanzana Fidel , Solari Guajardo Sandra , Fardella Bello Carlos E. , Carvajal Cristian A. , Campino Johnson Carmen , Baudrand Biggs Rene , Garcia Bruce Hernan , Moore Valdes Rosario , D’apremont Ormeno Ivonne , Martinez-Aguayo Alejandro ,

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptorsÂ’ activation by cortisol. The i...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0084fc4.4 | Growth | ESPE2015

Modulation of GH-1 Splicing as Potential Strategy to Rescue GH Deficiency Type II

Miletta Maria Consolata , Fluck Christa E , Mullis Primus-E

Background: Isolated GH deficiency type II (IGHD II), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human GH (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5-kDa GH isoform that reduces the accumulation and secretion of wt-GH.Objective and hypotheses: As the severity of IGHD II inversely correlate...

hrp0095p1-312 | Growth and Syndromes | ESPE2022

Global Increlex® Registry, post-authorisation surveillance registry monitoring the long-term safety and effectiveness of mecasermin in children and adolescents with Severe Primary IGFD (SPIGFD): objectives and study design

Bang Peter , Mazain Sarah , Perrot Valérie , Sert Caroline

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by severe short stature. Replacement therapy with recombinant human IGF-1 (rhIGF-1; mecasermin [Increlex®]) is currently the only available treatment for children/adolescents with SPIGFD. We describe the methodology of the Global Increlex Patient Registry (NCT00903110), designed to monitor long-term safety and effectiveness of meca...

hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

hrp0089rfc15.4 | Growth and syndromes | ESPE2018

Characteristics, Effectiveness and Safety Data from Clinically Relevant Subgroups of Patients with Severeprimary IGF-I Deficiency (SPIGFD): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Woelfle Joachim , Polak Michel , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

hrp0089p1-p035 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Long-term Outcomes of Osteogenesis Imperfecta in the Bisphosphonate Era

Feehan Andrew , Zacharin Margaret , Lim Angelina , Simm Peter

Background: Bisphosphonates have been used for treatment of bone fragility disorders for over 25 years to increase bone mineral density (BMD). Anecdotally, bisphosphonate-treated Osteogenesis Imperfecta (OI) has a different trajectory to the natural history of untreated OI, with minimal published evidence to support this clinical observation.Aims: To describe functional outcomes of a cohort of adults with OI, stratified according to severity and treated ...

hrp0089p2-p183 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Congenital Hyperinsulinism: Management and Outcome in West of Scotland

Eltonbary Khadiga , Robinson Peter , Banerjee Indi , Shaikh Mohammed Guftar

Introduction: Hyperinsulinemic hypoglycaemia (HH) is the most frequent cause of persistent hypoglycaemia in neonates and infants. The most severe forms of HH are inherited and referred to as Congenital Hyperinsulinism (CHI). Hypoglycaemia is the main feature of CHI, and early diagnosis and immediate management are essential to reduce the high risk of neurological damage. Diazoxide is the mainstay of medical treatment, with surgery being an option in appropriate cases.<p cl...

hrp0089p1-p184 | Growth &amp; Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...