hrp0097fc12.5 | Thyroid | ESPE2023

Teprotumumab in an adolescent with severe corticosteroid-resistant Graves ophthalmopathy: success but unexpected neurological manifestations

Atger-Lallier Laura , Elmaleh Monique , Pedron Beatrice , Storey Caroline , De Filippo Gianpaolo , Martinerie Laetitia , Leger Juliane , Carel Jean-Claude

Moderate to severe Graves ophthalmopathy (GO) is rare in children and most patients have mild GO. This complex inflammatory autoimmune disorder affecting the orbital fat and muscles is linked to circulating TSH receptor antibodies and involves the insulin-like growth factor-I receptor (IGF-IR) on orbital fibroblasts. Severe GO features include proptosis, diplopia and vision loss. Intravenous glucocorticoid pulse therapy is the first line medical treatment for moderate to sever...

hrp0097p1-506 | Growth and Syndromes | ESPE2023

Characteristics, effectiveness and safety data for patients with growth failure treated with recombinant IGF-1 and achieving adult or near-adult height: results from the Increlex® Global Registry

Bang Peter , Ramón Krauel Marta , Maghnie Mohamad , Woelfle Joachim , Sert Caroline , Perrot Valérie , Pennestri Daniele , Polak Michel

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

hrp0097p1-511 | Growth and Syndromes | ESPE2023

Pathway to assess severe primary IGF-1 deficiency diagnosis by using the IGF-1 generation test in a real-life setting: data from the Global Increlex® Registry

De Schepper Jean , Bossowski Artur , Argente Jesús , Sert Caroline , Perrot Valérie , Pennestri Daniele , Bang Peter

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

hrp0098p1-63 | Growth and Syndromes 1 | ESPE2024

Long-term effectiveness and safety data from the Global Increlex® Registry in patients treated with rhIGF-1: Subgroup analysis of naïve pre-pubertal patients and patients with Laron syndrome

Ramón Krauel Marta , Woelfe Joachim , Polak Michel , Maghnie Mohamad , Beń-Skowronek Iwona , Sert Caroline , Perrot Valérie , Bang Peter

Background: The Global Increlex® Registry (NCT00903110) monitors real-world safety and effectiveness of recombinant human insulin-like growth factor (rhIGF-1; Increlex® [mecasermin]) in severe primary IGF-1 deficiency (SPIGFD). Patient characteristics, effectiveness and safety data from 2008–2023 are described.Methods: Descriptive analyses of registry data from children/adolescents age...

hrp0084p1-165 | Miscelleaneous | ESPE2015

Higher Urinary Iodine Levels Iodine Correlates with Lower Systolic Blood Pressure in Chilean Schoolchildren

Grob Francisca , Martinez-Aguayo Alejandro , Ateaga Maria Clara , Loureiro Carolina , Carrillo Diego , Hill Caroline , Campino Carmen , Mendoza Carolina , Ferrada Clarita , Bancalari Rodrigo , Pinochet Constanza , Carvajal Cristian , Aglony Marlene , Valdivia Carolina , Vecchiola Andrea , Carrasco Carmen , Baudrand Rene , Fuentes Cristobal , Garcia Hernan , Fardella Carlos

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...

hrp0089rfc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Close Correlation between Salivary and Blood Steroids in Normal Boys: Salivary Testosterone Best Characterizes Male Puberty

Schwab Karl Otfried , Dickhuth Karoline , Mumm Rebekka , Stier Bernhard , Doerfer Juergen , Grueninger Dirk , Brichta Corinna Melanie , van der Werf-Grohmann Natascha , Wurm Michael , Krebs Andreas

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

hrp0095p1-286 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Sulphonylurea for Improving Neurological Features in Neonatal Diabetes: a systematic review and meta-analyses

de Gouveia Buff Passone Caroline , Giani Elisa , Vaivre-Douret Laurence , Karayawasam Dulandjalee , Berdugo Marianne , Garcin Laure , Beltrand Jacques , Marques Bernardo Wanderley , Polak Michel

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

hrp0095p2-144 | GH and IGFs | ESPE2022

Growpati Study: Clinical and genetic characterization of a cohort of patients with short stature due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Gonzalez-Briceno Laura , Thalassinos Caroline , Amselem Serge , Legendre Marie , Netchine Irene , Brioude Frederic , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

hrp0092rfc3.2 | Multi-system Endocrine Disorders | ESPE2019

Factors Affecting Loss to Follow-Up for Patients with Chronic Endocrine Conditions During the Pediatric Period: A Cohort Study at a Reference Center for Rare Diseases

Atger-Lallier Laura , Guilmin-Crepon Sophie , Boizeau Priscilla , Zenaty Delphine , Simon Dominique , Paulsen Anne , Martinerie Laetitia , Storey Caroline , Carel Jean-Claude , Leger Juliane

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...