ESPE Abstracts

ESPE Abstracts

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Previous issue | Volume 97 | ESPE2023 | Next issue

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

Poster Category 1

Late Breaking

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Thyroid
Table of contents

hrp0097lb1 | Late Breaking | ESPE2023

Familial hCG Syndrome in two Chinese Families with elevated hCG level concurrently in blood and cerebrospinal Fluid

Huang Mengtian , Zhang Jun , Ma Huamei , Li Yanhong , Zheng Rujiang , Chen Qiuli , Liu Liulu

Background: Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (β- hCG), moreover, elevated β-hCG in cerebrospinal fluid(CSF) has never been reported in familial hCG syndrome.Object: To report the two Chinese families of familial hCG syndrome with elevated β-hCG concurrently in blood/CSF.Method: We described the clini...
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hrp0097lb2 | Late Breaking | ESPE2023

Denosumab in the treatment of paediatric hypercalcaemia

Tischlinger Katharina , Blaschitz Alexandra , Hörtenhuber Thomas , Montero-Lopez Rodrigo , Wimleitner Marlene , Uday Suma , Crane Janet , Högler Wolfgang

Background: Hypercalcaemia has various etiologies and treatment is often challenging. Therapeutic options include aggressive fluid management, loop diuretics and antiresorptive drugs. Since both hypercalcaemia and bisphosphonates can cause acute kidney injury (AKI), bisphosphonates are not recommended in patients with renal impairment. Denosumab, an antiresorptive human monoclonal antibody, is not associated with AKI and offers a temporary treatment option. Ho...
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hrp0097lb3 | Late Breaking | ESPE2023

Congenital Hyperinsulinism due to ABCC8/KCNJ11 mutations and the long-term outcome - a single center experience

Noordin Mazidah , Miyagi Hajime , Igarashi Mizuho , Kashima Takemoto , Fujioka Akiko , Ujita Nagisa , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Hyperinsulinism is a common cause of persistent hypoglycemia beyond infancy. Mutations in the ABCC8/KCNJ11 genes are the most common aetiology of congenital hyperinsulinism (CHI), leading to KATP channel mutation. This results in an inappropriate insulin secretion irrespective of hypoglycaemia. This is a cross-sectional study of the patients attending the paediatric endocrinology unit at the National Centre for Child Health & Development (NCCHD), Tokyo, Japan from March 20...
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hrp0097lb4 | Late Breaking | ESPE2023

A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by carney complex.

Grosse Martin , Abicht Angela , Gebhard Christian , Grasemann Corinna , Kiewert Cordula , Unger Nicole , Weber Frank , Bierkamp-Christophersen Dirk , J Kaiser Frank , Munteanu Martin

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...
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hrp0097lb5 | Late Breaking | ESPE2023

Clinical phenotyping of patients with genetic obesity

S. Welling Mila , Mohseni Mostafa , E.H. Meeusen Renate , R. Boon Mariëtte , J. de Groot Cornelis , M. van Haelst Mieke , A. Visser Jenny , L.T. van den Akker Erica , F.C. van Rossum Elisabeth

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...
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hrp0097lb6 | Late Breaking | ESPE2023

A concomitant increase in thinness and weight excess in Brazilian schoolchildren: evaluation from 2010 to 2022

M de Jesus Luciana , M Pinto Renata , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The Body Mass Index (BMI) is an essential indicator for the nutritional assessment of children and reflects the exposure to health conditions that are harmful to the development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 5-10 between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained ...
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hrp0097lb7 | Late Breaking | ESPE2023

Hypercalcemia in children: experience from a single center

Lin Hu , Wu Wei , Xu Xiaoqin , Yu Zhu , Zhu Mingqiang , Huang Ke , Fu Junfen , Dong Guanping

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...
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hrp0097lb8 | Late Breaking | ESPE2023

Mutant MCM8 induces apoptosis and S Phase Arrest in Premature Ovarian Insufficiency

Fei Wang

Keywords: Primary ovarian insufficiency; Microsomal maintenance complex 8; Cell apoptosis; Cell cycle; PI3K/AKTBackground: Primary ovarian insufficiency (POI) with a chromosome karyotype of 46,XX in children, compared to adults, is difficult to diagnose and often seek medical attention due to delayed puberty or short stature. We have reported the two novel pathogenic mutations p.C242R and p.S445*of MCM8 gene in a pedigre...
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hrp0097lb9 | Late Breaking | ESPE2023

Clinical Characteristics and Long-Term Management for Patients with Vitamin D-dependent Rickets Type II: A Retrospective Study in Saudi Arabia

Binladen Amal , Alsagheir Afaf , Alhuthil Raghad

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...
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hrp0097lb10 | Late Breaking | ESPE2023

FTO-mediated m6A modification of BDNF enhances GnRH expression during puberty onset via activating PI3K/AKT signaling.

Zang Shaolian , Yin Xiaoqin , Li Pin

Background: The etiology of central precocious puberty (CPP) still remains unknown. The abnormal expression of Fat mass and obesity-associated (FTO)-mediated N6-methyladenosine (m6A) has been confirmed to play the crucial roles in CPP. This study aimed to explore the mechanism of FTO-mediated m6A modification of brain-derived neurotrophic factor (BDNF) on CPP with puberty onset.Methods: The qRT-PCR and immunofluorescence...
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hrp0097lb11 | Late Breaking | ESPE2023

Abstract withdrawn...
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hrp0097lb12 | Late Breaking | ESPE2023

Dysregulated adipose tissue expansion and impaired adipogenesis in Prader-Willi syndrome children before obesity-onset

Chao Yunqi , Zou Chaochun

Objective: Prader-Willi syndrome (PWS) is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity represents the PWS clinical hallmarks. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome. Despite advancements in understanding the genetic basis for PWS, the pathophysiology of obes...
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hrp0097lb13 | Late Breaking | ESPE2023

Low-Dose Liraglutide-Induced Acute Kidney Injury and Hepatocellular Disorder in an Adolescent Patient

Wittenberg Avigail , Komargodski Rinat , Rachmiel Marianna

Background: Liraglutide (SAXENDA®) is a glucagon-like peptide 1 (GLP-1) receptor agonist approved as an adjunct for chronic weight management in combination with a reduced-calorie diet and increased physical activity. Previous case reports have suggested an association between liraglutide use and acute kidney injury in adults, particularly at maintenance doses of 1.2 mg/day or higher. However, there is less data on the impact of liraglutide in the adolesce...
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hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen

HM

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...
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hrp0097lb15 | Late Breaking | ESPE2023

Metabolic Status in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...
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hrp0097lb16 | Late Breaking | ESPE2023

Associations Between Serum Levels of Thyroid Function and Per- and Polyfluoroalkyl Compounds Concentrations in Central Precocious Puberty in Girls

Li Yan , Li Pin

Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset.Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP).Methods: In a prospective study initially established for assess...
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hrp0097lb17 | Late Breaking | ESPE2023

The Majority of Children with Pediatric Growth Hormone Deficiency Treated With Lonapegsomatropin for Up To 6 Years Met or Exceeded Average Parental Height SDS: Final Results of enliGHten

Vlachopapadopoulou Elpis , Thornton Paul , Hofman Paul , Nadgir Ulhas , Saenger Paul , Malievskiy Oleg , Aghajanova Elena , Korpal-Szczyrska Maria , Mao Meng , Abdelrahman Sohair , Komirenko Allison , Shu Aimee , Maniatis Aristides

Introduction: Lonapegsomatropin (SKYTROFA, TransCon hGH), a prodrug of somatropin administered once-weekly, is approved for the treatment of pediatric growth hormone deficiency (GHD) by the Food and Drug Administration and European Commission. In the pivotal 52-week phase 3 heiGHt trial and 26-week fliGHt trial (enrolled treatment-naïve and treatment-experienced participants, respectively), lonapegsomatropin demonstrated safety and efficacy in children wi...
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hrp0097lb18 | Late Breaking | ESPE2023

A Novel Variant of NR2F2 Associated with Non-syndromic 46,XY DSD

Wankanit Somboon , Zidoune Housna , Bignon-Topalovic Joëlle , Schlick Laurène , Houzelstein Denis , Fusee Leila , McElreavey Kenneth , Bashamboo Anu , Elzaiat Maëva

Differences of sex development (DSD) are congenital conditions with discordance between chromosomal, gonadal and/or anatomic sex. DSD can be syndromic or non-syndromic based on the presence or absence of somatic anomalies, respectively. Variants in several genes have been identified in association with errors of testis determination and male genital differentiation. However, despite technological advances, a genetic diagnosis is not achieved in nearly 50% of individuals presen...
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hrp0097lb19 | Late Breaking | ESPE2023

Identification of a novel homozygous mutation in LEPR gene associated with severe early-onset pediatric obesity in two sisters from Central Brazil

Machado Pinto Renata , P Pinto Irene , G Rodovalho Ricardo , de O Silva Lorena , VC Fukushima Lorraine , S Moreira Vanessa , S B de Souza Cristiane

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...
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hrp0097lb20 | Late Breaking | ESPE2023

Turner Syndrome: Skin, Liver, Eyes, Dental and ENT assessments should be improved

Lam Jenny , Stoppa-Vaucher Sophie , Cristina Antoniou Maria , Bouthors Thérèse , Ruiz Inge , Gawlik Aneta , Pitteloud Nelly , Hauschild Michael , Busiah Kanetee

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...
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