Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Top 20 Posters


hrp0097t1 | Section | ESPE2023

Molecular and clinical studies in 84 patients with pseudohypoparathyroidism type 1B.

Urakawa Tatsuki , Sano Shinichiro , Narusawa Hiromune , Kawashima Sayaka , Nakamura Akie , Matsubara Keiko , Dateki Sumito , Fukami Maki , Ogata Tsutomu , Kagami Masayo

Context: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. However, there are no reports evaluating the clinical differences in detail, such as diagnostic features at onset and Albright’s hereditary osteodystrophy (AHO) features, among the groups.<stro...

hrp0097t2 | Section | ESPE2023

Effects of tiratricol treatment withdrawal in MCT8 deficiency: ReTRIACt Trial

Freund Matthijs , Chatterjee Krishna , van Geest Ferdy , van der Most Floor , Bowers Dominic , Persson Anders , J Bauer Andrew , Edward Visser W.

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...

hrp0097t3 | Section | ESPE2023

Prevalence of selected polymorphisms of Il7R, CD226, CAPSL and CLEC16A genes in children and adolescents with autoimmune thyroid diseases

Borysewicz-Sańczyk Hanna , Wawrusiewicz-Kurylonek Natalia , Gościk Joanna , Sawicka Beata , Krętowski Adam , Bossowski Artur

Introducion: Autoimmune thyroid diseases (AITDs): Hashimoto's thyroiditis (HT) and Graves’ disease (GD) are common chronic autoimmune endocrine disorders in children. The mechanisms leading to the development of these diseases remain unknown, however scientific reports indicate that in addition to environmental factors, genetic background plays an important role. In our previous studies, we showed that some polymorphisms of the genes for IL2RA, FAIM...

hrp0097t4 | Section | ESPE2023

Functional characterization of novel MC4R gene variant in two unrelated patients with morbid obesity

Mohammed Idris , Selvaraj Senthil , Ahmed Wesam , Albarazenji Tara , Al-Shafai Mashae , Hussain Khalid

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

hrp0097t5 | Section | ESPE2023

Clinical relevance of findings of the NGS panel for the pediatric patient with papillary thyroid carcinoma

Dujovne Noelia , Gazek Natalia , Vaiani Elisa , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Lopez Marti Jessica , Ayarzabal Victor , Ciaccio Marta , Belgorosky Alicia , Herzovich Viviana

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

hrp0097t6 | Section | ESPE2023

Granulosa cell tumors in girls: Preliminary results of a meta-analysis of new and published cases

Kiss Eszter , Wessmann Sandra , W Carlson Joseph , Lundberg Elena , Stenmarker Margaretha , Bobeck Johan , Lodefalk Maria

Background: Granulosa cell tumors (GCT) originate from sex cord/stromal tissue in the gonad. They are typically located in an ovary, but extra-gonadal localisation exists. These tumors are extremely rare in children and no systematic review has been published. The objective of this systematic review is to examine the following questions: What is the clinical picture of girls with a GCT? How are these patients treated and what is their prognosis?<p class="a...

hrp0097t7 | Section | ESPE2023

Variants in the Neurodevelopmental Gene Bone Morphogenic Protein/Retinoic Acid Inducible Neural-Specific 2 (BRINP2) are Associated with Severe Delayed Puberty

Al-Sayed Yasmin , Howrad Sasha , Guasti Leonardo , Oleari Roberto

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

hrp0097t8 | Section | ESPE2023

Design and Objectives of the Acorn Study: A Non-Interventional Study Evaluating Long-term Safety in Achondroplasia Patients Treated with Vosoritide

M Pimenta Jeanne , Cohen Shelda , Mukherjee Swati , Fettes Fiona , Jayaram Kala , Lausch Ekkehart , Mallya Usha G. , Min Yang , Caroline Huber , Cala Mary Lynn , Ali Greatsinger , Jeremy Pomeroy , Haqq Andrea M.

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was approved by the European Medicines Agency (EMA) in August 2021 for treating genetically confirmed achondroplasia in patients aged ≥2 years until closure of epiphyses. Acorn is the first treatment-based registry for a...

hrp0097t9 | Section | ESPE2023

Early metabolic risk factors in children with 21 Hydroxylase Deficiency (21OHD): a case-control study

Apuzzo Diletta , Moracas Cristina , Izzo Anna , Di Mase Raffaella , Lorello Paola , Capalbo Donatella , Salerno Mariacarolina

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

hrp0097t10 | Section | ESPE2023

Long term effects at 3-4 years of age of early intranasal oxytocin treatment in infants with Prader-Willi syndrome

Valette Marion , Diene Gwenaelle , Glattard Mélanie , Cortadellas Julie , Molinas Catherine , Faye Sandy , Benvegnu Grégoire , Boulanouar Kader , Payoux Pierre , Pierre SALLES Jean , Arnaud Catherine , Cabal-Berthoumieu Sophie , Tauber Maithé

Introduction: The neuropeptide oxytocin (OT) plays an important role in modulating behaviour and social interactions. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder due to abnormal hypothalamic development including OT dysfunction that involves endocrine, nutritional and behavioural outcomes/features/trajectory. We previously showed in a phase I/II study (NCT02205034) that 18 infants with PWS, less than 6 months of age, who received ...

hrp0097t11 | Section | ESPE2023

The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis

Murat Altinkilic Emre , du Toit Therina , Sakin Onder , Attar Rukset , Grössl Michael , E. Flück Christa

Context: Polycystic ovary syndrome (PCOS) is defined by androgen excess and ovarian dysfunction in the absence of a specific physiological diagnosis. The best clinical marker of androgen excess is hirsutism, while the best biochemical parameter is still a matter of debate. Current consensus guidelines recommend serum free testosterone as the most sensitive serum parameter to measure androgen excess. Recently, however, novel active androgens and androgen metabo...

hrp0097t12 | Section | ESPE2023

Correlation between Metabolites of phthalate and Obese trends in Korean Children and Adolescents using Nationwide data

Eun Kim Ki , Eom Sang-Yong , Park Jung-Duk , Choi Byung-Sun , Hong Yong-Seob , Pyo Hee-Seob , Shin Hye-Jung

The aim of this study was to investigate that exposure metabolites of phthalate one of the endocrine disruptors might be different in sex and might have influenced from obesity and insulin resistance in Korean children and adolescents. Nationwide data of 551 subjects aged 8-15 years (boys 281 and girls 270) who were included the study from 2010-2011. Subjects were grouped by sex and BMI percentile (normal: BMI<85p; overweight: 85P≤BMI<95p; obese: ≥95p). We...

hrp0097t13 | Section | ESPE2023

Single-nuclei RNA sequencing reveals potential mechanisms of ovarian insufficiency in 45,X Turner Syndrome

M McGlacken-Byrne Sinead , Del Valle Ignacio , Xenakis Theodoros , Nel Lydia , Liptrot Danielle , Solanky Nita , C Conway Gerard

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

hrp0097t14 | Section | ESPE2023

Circulating Progranulin in Human Infants: Relation to Prenatal Growth and Early Postnatal Nutrition

Díaz Marta , Mestres-Arenas Alberto , López-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibáñez Lourdes

Background: Progranulin (PGRN) displays pleiotropic biological functions including on early embryogenesis, cell proliferation, lysosomal or neuronal functioning and wound repair, and has been proposed as a biomarker for metabolic diseases. Increased PGRN levels have been reported in type 2 diabetes, nonalcoholic fatty liver disease and in preeclampsia associated to placental dysfunction. However, the ontogeny of PGRN concentrations and the potential value of P...

hrp0097t15 | Section | ESPE2023

Cognitive evaluation in children with 21 Hydroxylase Deficiency (21-OHD)

Moracas Cristina , Lorenzo Ivan , Apuzzo Diletta , Santamaria Fabiana , Amitrano Marianna , Salerno Mariacarolina , Capalbo Donatella

Objective: The balance between hypocortisolism and hyperandrogenism in patients with classic congenital adrenal hyperplasia (CAH) treated with lifelong glucocorticoid (GC) is challenging. Glucocorticoid receptors are widely expressed in the brain; therefore it has been hypothesized that alterations in the exposure to glucocorticoids may affect cognitive ability in individuals with CAH. Only few studies have addressed this issue in children and results are scan...

hrp0097t16 | Section | ESPE2023

Dose dependent risks of glucocorticoid treatment in classic CAH

Saragolou Kyriakie , Casteràs Anna , Will Charlton R , Barnes Chris , Thornton Paul

Introduction: In congenital adrenal hyperplasia (CAH), glucocorticoid (GC) treatment must perform two functions – to replace cortisol deficiency and to suppress the excess production of adrenal androgens. Unfortunately, androgen suppression usually requires supraphysiologic GC doses, which are associated with serious comorbidities. Our study examined the exposure or dose-dependent relationships between GCs and GC-related adverse events (GCRAEs) and comor...

hrp0097t17 | Section | ESPE2023

Deterioration in polysomnographic evaluation after COVID-19 infection in patients with Prader-Willi-Syndrome

Braun Sina , Schulte Sandra , Laemmer Constanze , Gohlke Bettina

Background: Patients with Prader-Willi-Syndrome (PWS) seem to be a risk-group for COVID-19 infection, due to their syndrome associated clinical features of hyperphagia and obesity, risk for central hypoventilation and obstructive sleep apnoea. Yet, little is known about the severity of infections and the long-term consequences in these patients. Therefore, we studied auxologic parameters and sleep laboratory examinations in PWS patients before and after COVID-...

hrp0097t18 | Section | ESPE2023

Pubertal origin of growth retardation in Inborn Errors of Protein Metabolism: A longitudinal cohort study

Busiah Kanetee , Roda Célina , Crosnier Anne-Sophie , Brassier Anaïs , Wicker Camille , Ottolenghi Chris , Pontoizeau Clément , Souberbielle Jean-Claude , Piketty Marie-Liesse , Perin Laurence , Le Bouc Yves , Arnoux Jean-Baptiste , Imbard Apolline , Netchine Irène , de Lonlay Pascale

Background: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. Nutritional amino-acid mixtures (AMM) free of the poorly metabolised amino-acids by the enzyme block, improve nutrition. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We aimed to: 1/ describe growth and puberty in IAAMDs 2/ investigate associations linking height, IGF1 and IGFBP3 with AAM an...

hrp0097t19 | Section | ESPE2023

Pre-treatment Blood Transcriptome Predicts Growth Response to Somapacitan Treatment in Children Born Small for Gestational Age

Garner Terence , Clayton Peter , Højby Rasmussen Michael , Murray Philip , Stevens Adam

Treating short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that are burdensome for patients and caregivers. Results from REAL5 (ongoing randomised, multinational, open-label, controlled, dose-finding phase 2 trial; NCT03878446) indicate that somapacitan (0.24 mg/kg/week) has an efficacy, safety, and tolerability profile similar to daily GH (0.067 mg/kg/day) after 52 weeks of treatment in children born SGA. Predicting G...

hrp0097t20 | Section | ESPE2023

Hyperparathyroidism is associated with inferior event free survival in lymphatic childhood malignancies in a single center retrospective analysis

Grasemann Corinna , Höppner Jakob , Tippelt Stephan , Grabow Desiree , Cario Gunnar , Zimmermann Martin , Reinhardt Dirk , M Schündeln Michael

Introduction: Vitamin D status is investigated as a modifier for the risk and course of multiple malignant diseases. Findings point towards a detrimental role of low vitamin D levels for event free and overall survival (EFS/OS). However, vitamin D deficiency is often associated with secondary hyperparathyroidism, which may influence EFS/OS in childhood malignancies.Methods: Real world data from 1547 cases (873 male) of c...