Late Breaking

hrp0098p2-296 | Late Breaking | ESPE2024

Treatment with Continuous Subcutaneous Hydrocortisone Infusion (CHSI) in Children with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency: An Option for Poorly Controlled Patients

Sophie Lambert Anne , Agathe Trouvin Marie , Reguieg Khadidja , Rothenbuhler Anya , Teinturier Cecile , Linglart Agnes , Bouvattier Claire

Introduction: Children with CAH need a supraphysiologic dose of hydrocortisone, from 12-20 mg/m2/day to suppress adrenal androgens. Patients with difficult-to-treat CAH typically present with a combination of CAH-related (hyperandrogenemia, advancedbone age and short stature, amenorrhea) and glucocorticoid overtreatment–related clinical symptoms. Continuous subcutaneous hydrocortisone infusion therapy (CSHI) administered via an insulin pump has been used...

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hrp0098p2-297 | Late Breaking | ESPE2024

CYP21A2 genotype and phenotypic manifestation in children with congenital adrenal hyperplasia from a tertiary care center in Eastern India.

Samaddar Sukla , Dey Subrata , Raj Neethu , Correa Alec

Introduction: Genetic mutation in the CYP21A2 gene presents with various phenotypes in congenital adrenal hyperplasia (CAH). We conducted a cross-sectional study of the genotypic pattern and its corresponding phenotype at a tertiary care hospital of Eastern India.Method: We screened all children aged between 0-18 years under follow-up who underwent genetic analysis for CYP21A2 mutations based on clinical or biochemical f...

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hrp0098p2-298 | Late Breaking | ESPE2024

A real-world data analysis of 37 pediatric patients with pheochromocytoma and paraganglioma: Evaluation of the concordance between current diagnostic and treatment algorithms and clinical management practices in resource-limited settings

Kurt Ilknur , Gurpinar Tosun Busra , Gul Uslu Nihal , Ozalp Kizilay Deniz , Dikmen Ibrahim , Ozguc Comlek Fatma , Bugrul Fuat , Bezen Digdem , Hatipoglu Nihal , Dogan Murat , Deniz Papatya Cakir Esra , Ucar Ahmet , Ozcabi Bahar , Yildirim Cakar Didem , Hatun Aytac Kaplan Emel , Sutcu Zumrut , Nur Hepokur Merve , Catli Gonul , Ahmet Ucakturk S , Demir Senol , Siklar Zeynep , Haliloglu Belma , Turan Serap , Bereket Abdullah , Guran Tulay

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare pediatric neuroendocrine tumors. Data on the diagnosis, treatment and follow-up of PPGL in children are limited and lack standardization. Furthermore, variations in access to diagnostic and therapeutic resources across centers contribute to inconsistencies in clinical management.Aim: To identify variations in the clinical management of paediatric PPGL with...

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hrp0098p2-299 | Late Breaking | ESPE2024

A novel mutation in type 1 familial glucocorticoid deficiency associated with a deletion of chromosome 9

Kherra Sakina , Bellouti Sihem , Mohamedi Kahina , Sifour Latifa , Sahli Hassiba , Bouferoua Fadila , Zeroual Zoulikha , Roucher Florence , Laurence Michel

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

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hrp0098p2-300 | Late Breaking | ESPE2024

Comparison of Steroid Hormone Levels Measured by Immunoassay and Liquid Chromatography-Mass Spectrometry (LC-MS) Methods in the Follow-Up of Patients with Congenital Adrenal Hyperplasia

Taba-Tabai Shahla , Ozsu Elif , Siklar Zeynep , Kizilcan Cetin Sirmen , Dogan Ozlem , Aycan Zehra , Berberoglu Merih

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting from a genetic defect in one of the enzymes involved in the synthesis of cortisol from cholesterol in the adrenal cortex. Although steroid hormone levels are used in the diagnosis and monitoring of CAH, not all steroid hormone levels can be measured by ELISA. Steroid hormone levels are measured using immunoassay and liquid chromatography-mass spectrometry (L...

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hrp0098p2-301 | Late Breaking | ESPE2024

Use of a F-Dex Binding Assay to Determine Steroid Response in Patients with Congenital Adrenal Hyperplasia

Aisenberg Javier , Chartoff Amy , Haugh Jeanette , Ghanny Steven

Background: Treatment of a subset of Congenital Adrenal Hyperplasia (CAH) patients consists of glucocorticoids, such hydrocortisone and prednisone. Doses are titrated to achieve adequate levels of biochemical markers, namely 17-hydroxyprogesterone and androstenedione. When these biomarkers are abnormal, medication adherence is often considered. However, alterations in glucocorticoid sensitivity is rarely considered. We have created a fluorescein labeled dexame...

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hrp0098p2-302 | Late Breaking | ESPE2024

Clinical and molecular characteristics of 26 patients with P450 oxidoreductase deficiency: A multicenter study

Yildiz Melek , Bayrak Demirel Ozge , Cayir Atilla , Unal Edip , Dilruba Aslanger Ayca , Betul Kaygusuz Sare , Kahveci Ahmet , Akcay Teoman , Turan Ihsan , Demir Korcan , Yildirim Ruken , Kocabey Sutcu Zumrut , Arslan Emrullah , Deniz Papatya Cakir Esra , Akin Leyla , Kiremitci Yilmaz Seniha , Guran Tulay , Bas Firdevs

Background: P450 oxidoreductase (POR) deficiency is a rare cause of congenital adrenal hyperplasia (CAH) with a wide spectrum of clinical phenotypes including glucocorticoid deficiency, difference/disorder of sex development (DSD), skeletal malformations, and Antley-Bixler syndrome. We describe the clinical and molecular characteristics of a large cohort with POR deficiency with long-term data.Methods: The medical record...

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hrp0098p2-303 | Late Breaking | ESPE2024

Copy number variations from whole exome sequencing in children with skeletal dysplasia

Kubota Takuo , Yamamoto Kenich , Yamada Chieko , Nakayama Hirofumi , Nakano Yukako , Fujiwara Makoto , Ohata Yasuhisa , Kitaoka Taichi , Ozono Keiichi , Kitabatake Yasuji

Germline copy number variations (CNVs) can lead to rare diseases. Despite the widespread use of whole exome sequencing (WES), array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) remain the first-line methods for detecting CNVs in clinical genetics due to technical biases in WES. Recently, a new pipeline (GATK-gCNV) has been developed to account for these biases, allowing for the detection of high-resolution CNVs from WES d...

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hrp0098p2-304 | Late Breaking | ESPE2024

Basal Ganglia Calcification in Children with Hypoparathyroidism and Pseudohypoparathyroidism: Characterization of Relationships and Clinical and Laboratory Findings

Gurpinar Tosun Busra , Kurt Ilknur , Helvacioglu Didem , Yavas Abali Zehra , Guran Tulay , Bereket Abdullah , Jüppner Harald , Turan Serap

Background: Hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) are conditions associated with basal ganglia calcification (BGC) which is thought to be caused by high serum calcium-phosphorus product and inadequate management of hypocalcemia. Novel mechanisms have recently been proposed for phosphate sensing and transport. However, the exact pathophysiology of BGC remains to be elucidated.Objective: To gain furthe...

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hrp0098p2-305 | Late Breaking | ESPE2024

Clinical Evaluation and Molecular Analysis of Genetic and Epigenetic Inactivation Defects in GNAS in children: A multicenter experience in China

Xu Xiaoqin , Shen Yingxiao , Yang Wei , Wei Haiyan , Chen Ting , Chen Linqi , Wang Zhihua , Yao Hui , Zhang Jianpin , Chen Ruimin , Sun Yan , MA Levine , Huang Ke , Dong Guanpin , Fu Junfen , Wu Wei

This study aim ed to screen pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and to assess their clinical features. A total 87 patients from 8 medical centers in China were included in this study, and 70 patients underwent analysis of GNAS by next-generation sequencing and methylation-specific multiple ligati...

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hrp0098p2-306 | Late Breaking | ESPE2024

Genotype and clinical characteristics analysis of nineteen chinese short-stature patients with acan gene variants

Cai Binbin , Chen Hong , Chen Ruimin

Objective: To explore the genotypes and phenotypes of 19 patients with ACAN variants presented as short stature with or without premature thelarche and abnormal intellectual development. Then the therapeutic response to recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone agonist (GnRHa) were analysed.Methods: We reviewed clinical data of 19 patients with ACAN variants. Genetic ...

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hrp0098p2-307 | Late Breaking | ESPE2024

An Observational Study to evaluate levels of Alkaline Phosphatase in Boys with Duchenne Muscular Dystrophy in South Wales.

Singh Anshika , Pryce Rebekah

Introduction: Alkaline Phosphatase (ALP) is an enzyme produced mainly by the liver and bones. Several conditions such as vitamin deficiencies or hypothyroidism can impair ALP synthesis and lead to low serum levels. Low levels can also be caused by rarer conditions such as hypophosphatasia. We noticed low levels of ALP in several of our patients with Duchenne Muscular Dystrophy (DMD) and wondered if this could be caused by low bone turnover due to high dose ste...

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hrp0098p2-308 | Late Breaking | ESPE2024

A Novel homozygous founder mutation in UFSP2 is associated with a distinct form of skeletal dysplasia in Emiratis

Mustafa Manal , Thalange Nandu , Rabea Fatma , Mughal Zulficar , Abou Tayoun Ahmad

Spondyloepimetaphyseal dysplasias (SEMDs), predominantly associated with disproportionate short stature, comprise a heterogeneous group of autosomal-dominant, autosomal-recessive, and X-linked recessive skeletal dysplasias caused by pathogenic variants in several genes. Here we characterize a distinct form of skeletal dysplasia in 4 individuals from 3 unrelated Emirati families. Through whole exome sequencing, we identify a novel homozygous missense variant (c.1376A>C; p.As...

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hrp0098p2-309 | Late Breaking | ESPE2024

Inadequate immune response post- vaccination and recurrent bacterial infections in a patient with X-linked hypophosphatemia, resolved under Burosumab therapy

Ertl Diana-Alexandra , Craiu Irina , Morelle Guillaume , Rothenbuhler Anja , Audrain Christelle , Berkenou Jugurtha , Linglart Agnes

Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX pathogenic variants leading to elevated fibroblast growth factor 23 (FGF23). FGF23 was shown to modulate the immune system. Excessive FGF23 signalling in mice with chronic renal disease results in deficient recruitment of neutrophiles in the infected tissues and to inadequate immune reaction against bacterial aggression (Rossaint et al). An increased risk for recurrent infect...

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hrp0098p2-310 | Late Breaking | ESPE2024

Hypervitaminosis D-induced hypercalcemia in infants: just a simple intoxication?

Mariani Carlo , Iannuzzi Roberta , Deodati Annalisa , Bizzarri Carla , Terracciano Alessandra , Cianfarani Stefano

Background: Vitamin D-induced hypercalcemia can result from exogenous vitamin D intoxication, excessive endogenous production or mutations in enzymes involved in vitamin D metabolism.Case Report: We describe an 8-month-old infant referred to the emergency department with history of failure to thrive and weight loss over the past two months. He was consuming type 2 formula milk supplemented with vitamin D plus vitamin D a...

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hrp0098p2-311 | Late Breaking | ESPE2024

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir Atilla , Turan Serap , Selver Eklioğlu Beray , Bayramoğlu Elvan , Unal Edip , Yildiz Melek , Acar Sezer , Eviz Elif , Dursun Fatma , Türkyılmaz Ayberk , Köprülü Özge , Özkaya Beyhan , Betül Kaygusuz Sare , Cantürk Merve , Sena Dönmez Ayşe , Turan Ihsan , Derya Kardelen Al Aslı , Buyukinan Muammer , Aydın Can , Dündar İsmail , Kırmızıbekmez Heves , Çamtosun Emine , Eroğlu Filibeli Berna , Akyürek Nesibe , Keskin Melikşah , Bilge Koca Serkan , Özkan Behzat , Bereket Abdullah , Demirbilek Huseyin

Background: Vitamin D Dependent Rickets Type-II (VDDRII) is a rare autosomal recessive disorder characterized by defects in its effect on the target organ due to mutations in the vitamin receptor (VDR) gene (Type 2) encoding for the active form 1,25 dihydroxyvitamin D.Objective and hypotheses: To evaluate the clinical characteristics, molecular genetics analysis results and long-term follow-up of a large nationwide cohor...

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hrp0098p2-312 | Late Breaking | ESPE2024

Infantile Hypercalcemia Type 2 due to a novel compound heterozygous association in the SLC34A1 gene in a neonate with hypercalcemia and nephrocalcinosis

T Papadimitriou Dimitrios , Fourikou Maria , Ververi Athina , Kaffe Katerina , Mantsiou Chrysanthi , Goudesidou Maria , N Grivea Ioanna , D Kollios Konstantinos

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...

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hrp0098p2-313 | Late Breaking | ESPE2024

Correlation of Bone Health Index (BHI) and Metacarpal Index (MCI) with calcium metabolism parameters in children and adolescents

Ntova Maria , Chrysis Dionysios , Dermitzaki Eleni , N Michoula Aspasia , Christopoulos Panayiotis , Mastorakos George , N Grivea Ioanna , T Papadimitriou Dimitrios

Introduction: The assessment of bone maturation with artificial intelligence (AI) has introduced new straightforward indicators of bone health monitoring related the much more complex and expensive method of measuring bone density with DEXA (Dual-Energy X-Ray Absorptiometry). Bone Health Index (BHI) describes bone mass as a function of cortical thickness, width and length of the three middle metacarpals, using digital hand X-rays for bone age evaluation from D...

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hrp0098p2-314 | Late Breaking | ESPE2024

Bone Health Index (BHI) and Metacarpal Index (MCI) in boys and girls on treatment with aromatase inhibitors

Piperidou Alexandra , Chrysis Dionysios , Dermitzaki Eleni , N Michoula Aspasia , Christopoulos Panayiotis , Mastorakos George , N Grivea Ioanna , T Papadimitriou Dimitrios

Third generation AIs have been repurposed as an off-label treatment in boys and girls, as they can retard closure of the epiphysial plate expanding the period of growth. Assessment of digital hand X-rays has introduced new follow-up indexes of bone health: Bone Health Index (BHI) from DICOM files describes bone mass as a function of cortical thickness, and Metacarpal Index (MCI) from digitized files expresses the cortical thickness standardized for the outer bone diameter at t...

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hrp0098p2-315 | Late Breaking | ESPE2024

Semaglutide modulated the gut microbiome composition and improved bile acid profiles in a mouse model of diabetic nephropathy

Kang Huimin , Chen Ruimin

Background: Semaglutide is a glucagon-like peptide-1 receptor agonist which has been confirmed that it offered kidney-protective effects in patients with type 2 diabetes and chronic kidney disease. However, the exact mechanism by which Semaglutide exerts its reno-protection remains largely unknown.Purpose: This study aim ed to investigate whether Semaglutide has beneficial effects in diabetic nephropathy mice via the gut...

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hrp0098p2-316 | Late Breaking | ESPE2024

A critical role for iron import through the transferrin receptor in developing ß-cells.

Van Mulders Annelore , Staels Willem , Lien Willems , Coenen Sophie , Bourgeois Stephanie , Xiaoyan Yi , Yue Tong , Leuckx Gunter , Heremans Yves , De Koning Eelco , Carlotti Francoise , Scharfmann Raphael , Cnop Miriam , De Leu Nico

Introduction: The transferrin receptor (TFRC) is abundant on the surface of ß-cells compared to neighboring α- and ∂-cells, suggesting an important role of iron in ß-cell biology. The precise impact of iron on ß-cell development, function, and survival remains elusive. Here, we investigated the role of iron metabolism in mouse and human ß-cells through chemical and genetic modulation of iron supply.<str...

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hrp0098p2-317 | Late Breaking | ESPE2024

A case of A20 haploinsufficiency and type 1 diabetes mellitus in an infant

Kondo Daiki , Wada Yasunori , Shimodate Ai , Yoshida Taro , Oikawa Keisuke , Akasaka Manami

Background: A20 (HA20) haploinsufficiency is a disease that causes persistent inflammation throughout the body due to a deficiency of the A20 protein, which suppresses the production of inflammatory cytokines such as TNF-α. It was first reported in 2016 as an inherited autoinflammatory disease with Behcet's disease-like symptoms that develops at a young age and has been reported to be associated with autoimmune diseases such as Hashimoto's dise...

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hrp0098p2-318 | Late Breaking | ESPE2024

Levels of NK cells in a cohort of Bulgarian children with type 1 diabetes

Elkina Stanimira , Blazheva Svetla , Halvadzhiyan Irina , Bozhanova Venetsiya , Petrova Chayka

Type 1 diabetes (T1D) is considered as the most common autoimmune chronic metabolic disease in childhood with constantly rising incidence in last decades. Many studies have confirmed the role of natural killer cells (NK) in the autoimmune destruction of the pancreatic beta cells The aim of the study was to evaluate the serum levels of NK cells in Bulgarian children with T1D from Pleven region and to assess their correlation with the metabolic control and diabetes duration<...

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hrp0098p2-319 | Late Breaking | ESPE2024

Sex, age and irisin levels in pediatric type 1 diabetes: a pilot study

Averbuch Shay , Gaiduk Oksana , Yackobovitch-Gavan Michal , Laurian Irina , Dorfman Anna , Shefer Gabi , Brener Avivit , Lebenthal Yael

Background: Irisin is a myokine involved in the browning of adipocytes, regulation of body composition, and enhancement of glycemic control. Additionally, irisin has been suggested to play a role in the signaling mechanisms associated with activation of the hypothalamic-pituitary-gonadal axis and the onset of puberty. Given the reported relationship between irisin levels and glycemic control, as well as the link between body composition and glycemic control, w...

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hrp0098p2-320 | Late Breaking | ESPE2024

Screening for celiac disease in children and adolescents with type 1 diabetes, what to do?

Pilar Achón Buil Ana , García-Boente Marina , Constanza Matus Sáez Tania , García Cuartero Beatriz , Alkadi Fernández Khusama , Martín Frías María , Corredor Andrés Beatriz , Roy Ariño Garbiñe , Yelmo Valverde Rosa , Belén Roldán Martín María

Introduction: The reported prevalence of celiac disease (CD) in paediatric patients with type 1 diabetes mellitus (T1D) ranges from 1.6 to 16.4%, with a tendency to increase in recent years. Most clinical guidelines recommend screening for CD at the diagnosis of T1D but conclude different recommendations regarding subsequent screening, hence the importance of providing new data in this population group.Methods: We presen...

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hrp0098p2-321 | Late Breaking | ESPE2024

Lipid lowering therapy, LDL- and non-HDL-cholesterol in children and adolescents with type 1 diabetes: An analysis based on the DPV registry

Becker Marianne , Weiskorn Jantje , Kamrath Clemens , Hammersen Johanna , Bechtold-Dalla Pozza Susanna , Müller-Roßberg Elke , Holder Martin , Burckhardt Marie-Anne , Holl Reinhard

Background: Cardiovascular risk factors largely determine morbidity and mortality in people with type 1 diabetes (T1D). Hyperlipidemia, especially in pediatric patients, is often undertreated, although it can lead to premature atherosclerotic changes. While non-HDL-C (non-HDL-cholesterol) is an important risk factor for cardiovascular events in patients with diabetes, guidelines only define LDL-C treatment targets. According to current ISPAD guidelines, childr...

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hrp0098p2-322 | Late Breaking | ESPE2024

Mauriac syndrome: A rare complication of Type 1 Diabetes Mellitus

Samvelyan Sona , Markosyan Renata , Hakobyan Nina

Introduction: Mauriac syndrome (MS) is a rare complication of Type 1 Diabetes Mellitus (T1D) associated with poor metabolic control. It is characterized by hepatomegaly, hypertransaminasemia, growth failure, delayed puberty. But MS also can be present without the full spectrum of characteristic features. MS is more prevalent in adolescence, although cases in children and adults have been described. Glycogenic hepatopathy is the most prominent component of this...

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hrp0098p2-323 | Late Breaking | ESPE2024

Hypoglycemia and type 2 diabetes mellitus in a patient with endogenous high methanol and his follow up

Razzaghy Azar Maryam , Nourbakhsh Mitra , Nourbakhsh Mona

Background: Small amount of methanol is produced in the intestine by hydrolysis of pectin from foods specially fruits and vegetables by intestinal microbiome and is absorbed and oxidized in the liver first to formaldehyde then formic acid and is excreted through feces.Case Report: A 4.3-year-old boy from first cousin consanguine parents was brought due to history of periodic sleepiness, seizure, diarrhea and vomiting and...

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hrp0098p2-324 | Late Breaking | ESPE2024

HOMA and Matsuda Index as Screening Tests for Cystic Fibrosis Associated Diabetes in Children

Albayrak Serpil , Arık Elif , Keskin Ozlem , Karaoglan Murat , Keskin Mehmet , Inal Gaye , Cesur Mahmut , Küçükosmanoğlu Ercan , Yıldırım Ahmet

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...

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hrp0098p2-325 | Late Breaking | ESPE2024

A novel mutation of CGK gene in patient with Diazoxide responsive congenital hyperinsulinism

Kherra Sakina , Ouarezki Yasmine , Bellouti Sihem , Sahli Hassiba , Sifour Latifa , Zeroual Zoulikha , Flanagan Sarah

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by excessive and inadequate insulin secretion from the pancreatic beta cells. Age at first symptoms and severity are usually correlated with the molecular mechanism, late diagnosis or even misdiagnosis are frequently seen. A genetic cause can be identified in only 50% of cases, potassium channel mutations are the most common mutations causing severe forms. Glucokinase mutation (GCK)...

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hrp0098p2-326 | Late Breaking | ESPE2024

Abstract Withdrawn...

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hrp0098p2-327 | Late Breaking | ESPE2024

A myostatin inhibitory antibody potentiates the positive effects of insulin on the skeletal muscle and bone phenotype of insulin-deficient diabetic female mice

Kalaitzoglou Evangelia , Adatorwovor Reuben , Ray Philip , Keeble Alexander , Fry Christopher , Uppuganti Sasidhar , Nyman Jeffry , Fowlkes John , Clay Bunn R

Background: Type 1 diabetes is associated with deficits in skeletal muscle and bone mass and quality. Inhibition of myostatin, a negative regulator of muscle mass, was explored as a therapeutic modality to improve the muscle and bone phenotype associated with insulin-deficient diabetes.Methods: We investigated whether an inhibitory myostatin antibody in streptozotocin (STZ)-induced diabetes in female mice is protective f...

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hrp0098p2-328 | Late Breaking | ESPE2024

Clinical study of glucose metabolism after allogeneic hematopoietic stem cell transplantation for children with β-thalassemia major

Dai Huilian , Zhang Lina , Liang Liyang

Objective: To investigate the characteristics of glucose metabolism in children with β-thalassemia major (β-TM) after allogeneic hematopoietic stem cell transplantation (HSCT), and to identify the factors that influence abnormal glucose metabolism after HSCT for children with β-TM.Methods: A total of 41 children with β-TM who underwent HSCT at Hematopoietic Stem Cell Transplantation Department of Chil...

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hrp0098p2-329 | Late Breaking | ESPE2024

Metformin Maybe Sufficient to Control Glycemia and Delay Insulin Dependency in Obese Children Presenting with Type 1 DM: A Report of 2 Cases

Alnassir Bayan , Alsubaihin Abdulmajeed

Objective: The majority of studies have focused on evaluating metformin as an additional therapy for T1DM, neglecting its potential as a standalone treatment for early-onset T1DM in obese individuals without ketosis. This case report presents two instances where metformin monotherapy effectively managed T1DM in children with early-onset and obesity-related conditions.Introduction: The association between obesity and T1DM...

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hrp0098p2-330 | Late Breaking | ESPE2024

Bone turnover markers in adolescents with type 1 diabetes before and after low carbohydrate diet versus a Mediterranean diet

levran Neriya , Levek Noah , Gruber Noah , Afek Arnon , Sher Bruria , Monsonego-Ornan Efrat , Pinhas-Hamiel Orit

Objectives: Given the critical role of linear growth and peak bone mass attainment in childhood and adolescence, this study sought to elucidate the effects of a low carbohydrate diet (LCD) versus a Mediterranean diet (MED) on bone turnover markers (BTM) in adolescents with type 1 diabetes (T1D).Methods: In an open-label, randomized controlled trial, 40 individuals with type 1 diabetes, aged 12-22 years, were randomly ass...

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hrp0098p2-331 | Late Breaking | ESPE2024

Impact of Diabetes Mellitus on Growth of the Affected Children and Young People - Single Centre Experience from Oman

Mohammed Talhah , Usatiuc Lia , Alsaffar Hussain

Introduction: Diabetes Mellitus (DM) as a chronic disease can have a significant impact on the growth and development of children and young people. Previous studies had indicated that children and adolescents with Type 1 diabetes mellitus often experience growth problems, with poor metabolic control potentially affecting their growth velocity.Aim: To study the impact of DM on the growth of affected children and young peo...

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hrp0098p2-332 | Late Breaking | ESPE2024

Familial Hypercholesterolemia in Saudi Arabia: Clinical Characteristics and Mortality Rate

Alsagheir Afaf , Albitar Mohammed , Alansari Rahaf , Aljaser Alhanouf , Ali Anas , Aldamouni Maeen , Alhosainy Ziad , Mohamed Rojina , Jaamour Heba , Alhuthil Raghad , Al-hamoudi Saad , Aldayel Abdulaziz , Abdullah Ismail , Aljumaa Mohammad , Khamaj Yara , Mcrabi Ali , Alquayt Meshari

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...

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hrp0098p2-333 | Late Breaking | ESPE2024

Accelerated growth of preadipocyte cultures with TSC1 downregulation might be linked to lipoma development and can be reversed by mTOR or PI3K inhibition

Friedrich Julika , Kirstein Anna , Hentschel Julia , Richter Sandy , Kiep Henriette , Arelin Maria , Konrad Platzer , Schulz Torsten , Merkenschlager Andreas , Kiess Wieland , Abou Jamra Rami , Mayer Steffi , Le Duc Diana , Garten Antje

Background: Tuberous Sclerosis Complex Subunit 1 (TSC1) encodes for the growth inhibitory protein hamartin, which suppresses mTOR signaling. Patients with TSC1 pathogenic variants are prone to developing benign tumors in the brain, kidneys, heart, skin, lungs, and other organs. We identified a likely pathogenic heterozygous germline TSC1 splicing variant NM_000368.5: c.737 +3A>G, r.664_737del, p. (Pro222Valfs*8) in a boy ...

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hrp0098p2-334 | Late Breaking | ESPE2024

Predicting metabolically unhealthy obesity in children

Abaturov Oleksandr , Nikulina Anna

Introduction: Metabolically unhealthy obesity (&Mcy;UO), characterized by cytokine-induced adipopathy with the development of persistent meta-inflammation, is the main cause of metabolically associated diseases of civilization, which are associated with the formation of a diseasome of insulin-resistant diseases.Objective: to investigate the contribution of clinical and genetic predictors to the development of MUO in chil...

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hrp0098p2-335 | Late Breaking | ESPE2024

Exploring the clinical outcomes and experiences for young people (12-17) taking Liraglutide for weight loss

Schaefer Natasha , Jackson Ojal

Background: Childhood obesity has fast become one of the greatest challenges faced by public health. Recent NHS figures (2018) state over one fifth of all year 6 students in the UK were living with obesity. This has consequences for health-care resources, but more importantly affects young people’s physical and mental wellbeing. Liraglutide (Saxenda), a glucagon-like peptide-1 agonist, has been proven to reduce blood glucose, markers of adiposity and sup...

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hrp0098p2-336 | Late Breaking | ESPE2024

The Role of Spexin in Metabolic Syndrome Among Childhood Obesity

Yılmaz Duygu , Sağsak Elif

Aim: Childhood obesity is a global health issue linked to significant problems. Given the rising obesity rates, effective strategies are crucial. This study compares spexin levels in overweight/obese vs. non-obese children, assesses hyperphagia in obese children, and explores the link between metabolic syndrome features and spexin levels.Materials and Methods: Between 2023-2024, Yeditepe University included children with...

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hrp0098p2-337 | Late Breaking | ESPE2024

Abetalipoproteinemia: a case report

Fernando Arrais Ricardo , A. C. M de Medeiros Iluska , M. C. Maia Jussara , Chrystian V. de Azevedo Jenner , Cássia Barrionuevo Jaim e Viviane , Barboza Beltrão Cristine , B. M. M. de Almeida Yngra , Fernandes da Cunha Camila , Madeira de Almeida Thalita , Adonícia Gurgel Martins Kerlândia , Digilio Vieira da Silva Leopoldo

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

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hrp0098p2-338 | Late Breaking | ESPE2024

Reducing BMI below the obesity threshold in children aged 6 to <12 years treated with once-daily liraglutide 3.0 mg: A secondary analysis of the SCALE Kids study

K. Fox Claudia , Barrientos-Pérez Margarita , M. Bomberg Eric , Dcruz John , Gies Inge , Majlund Harder-Lauridsen Nina , Yazid Jalaludin Muhammad , Sahu Kushal , Weimers Petra , Zueger Thomas , Arslanian Silva

Childhood obesity is associated with present and future complications, including type 2 diabetes and cardiovascular disease. Although lifestyle interventions (i.e. dietary and physical activity counselling) are the cornerstone of therapy, their impact on body mass index (BMI) is limited. The phase 3a SCALE Kids study (NCT04775082) demonstrated superiority of liraglutide 3.0 mg versus placebo, plus lifestyle interventions, for BMI reduction in children with general (i.e. non-mo...

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hrp0098p2-339 | Late Breaking | ESPE2024

Adipose tissue Ago2-deficiency improves obesity-related body fat distribution and metabolic disorders by reducing miRNA production and promoting BCAA catabolism

Li Qing , Luo Xiaoping

Background: Body fat distribution is associated with obesity-related disorders. Promoting subcutaneous fat proliferative expansion can reduce visceral fat ectopic deposition and the risk of obesity-related insulin resistance, hepatic steatosis, and cardiometabolic diseases. Argonaute 2 (Ago2) was found to mediate RNA silencing in the liver to regulate obesity-related energy metabolism, while its role in fat adipose tissue storing excess energy has not been add...

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hrp0098p2-340 | Late Breaking | ESPE2024

Evaluating the efficacy of the Evira treatment for childhood obesity treatment-a 26- week single arm interventional study in Abu Dhabi, United Arab Emirates

Hassan-Beck Reem , Lindberg Louise , Marcus Love , Danielsson Liljeqvist Pernilla , Al Qahtani Nabras , Chaturvedi Deepti , Abdalla Asmahan , Marcus Claude , Deeb Asma

Obesity remains a critical global health concern. Traditional treatment often yields limited results, necessitating innovative solutions. The Evira tool; comprising a digitless scale and a mobile application with real-time feedback, addresses these challenges by enhancing home- based monitoring. The primary aimwas to evaluate its efficacy for childhood obesity treatment in Abu Dhabi, with a secondary objective to establish non-inferiority compared to outcomes in Stockholm, Swe...

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hrp0098p2-341 | Late Breaking | ESPE2024

Risk factors for common obesity among primary school pupils in Batna (Algeria)

Zerguine Halima , Benaldjia Hanane , Bioud Belkacem

Introduction: Childhood obesity is the leading non-infectious epidemic worldwide. The aetiopathogenesis of obesity is highly complex and is linked to the interaction of multiple genetic and environmental factors. Screening for it and preventing it at an early stage is a public health priority, with the aimof reducing the early morbidity and mortality associated with its multi-systemic complications, dominated by cardiovascular and metabolic complications.<...

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hrp0098p2-342 | Late Breaking | ESPE2024

3-Month real-world setmelanotide hunger and weight outcomes in two French paediatric patients with hypothalamic obesity

Azar-Kolakez Ahlam , Bouhours Natacha , Coutant Régis

Introduction: Hypothalamic obesity (HO) is caused by physical, tumour- and/or treatment-related damage or developmental abnormalities to the hypothalamus which can lead to an impairment of the melanocortin-4 receptor (MC4R) signalling pathway. It is characterized by excessive and rapid weight gain following the damage. Treatment of HO with the MC4R agonist setmelanotide resulted in consistent and clinically meaningful responses in a 16-weeks open-label trial, ...

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hrp0098p2-343 | Late Breaking | ESPE2024

Reshaping of the chromatin landscape and angiogenic process in umbilical vein endothelial cells of small for gestational newborns

Yan Lingling , Wang Chunlin

The condition of being small for gestational age (SGA) poses significant risks to both infant development delay and chronic non-communicable diseases in adultood, especially cardiovascular diseases. Despite the known association between SGA and endothelial dysfunction, the precise pathogenic genes and underlying mechanisms driving this pathology have remained elusive. In this study, we conducted a comprehensive evaluation of endothelial dysfunction in SGA by their increased an...

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hrp0098p2-344 | Late Breaking | ESPE2024

Fluorescence-Guided Laparoscopic Near-Total Pancreatectomy: An Innovative Approach for Infants with Diffuse Congenital Hyperinsulinism—A Case Series

Atiq Elham , Dastamani Antonia , Kelay Arun , Stoyanov Danail , Giuliani Stefano , De Coppi Paolo

Introduction: Open near-total pancreatectomy remains the standard treatment for medically unresponsive diffuse Congenital Hyperinsulinism (CHI). This procedure involves significant postoperative morbidity, prolonged recovery and a high risk of adhesions. Minimally invasive surgery (MIS) near-total pancreatectomy in infants with diffuse CHI may reduce these complications but is challenging due to the risk of common bile duct (CBD) injuries. Intraoperative compl...

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hrp0098p2-345 | Late Breaking | ESPE2024

Association between maternal and fetal Small Chain Fatty Acids and offspring anthropometry during the first year of life in pregnancies with GDM: MySweetheart study

Antoniou Maria-Christina , Yedu Quansah Dan , Schenk Sybille , Horsch Antje , Mansuy-Aubert Virginie , Jacqueline Puder Jardena

Introduction: Gestational diabetes mellitus (GDM) is often accompanied by gut dysbiosis, which typically includes a decrease in short chain fatty acid (SCFA)-producing genera. Maternal SCFAs have been found to influence placental immunometabolism and fetal development. The aims of this study were: a) to investigate the associations between maternal and fetal (cord blood-umbilical artery) SCFA levels and offspring anthropometry during the first year of life in ...

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hrp0098p2-346 | Late Breaking | ESPE2024

Dynamic changes in exocrine pancreatic function after near total pancreatectomy in CHI Patients with KATP channel genes variants

Beka Elpiniki , Cheng Lauren , Cunjamalay Annaruby , Alhusaini Fatemah , Amin Rakesh , Peters Catherine , Dastamani Antonia

Background: Compound heterozygous or homozygous recessive variants within the ABCC8 and KCNJ11 genes represent common genetic aetiologies for Congenital Hyperinsulinism (CHI). These variants are associated with a severe diffuse form of the disease, often refractory to medical management, necessitating near-total pancreatectomy. Post-surgery, patients may develop diabetes mellitus (DM) and pancreatic exocrine insufficiency (PEI), necessitating...

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hrp0098p2-347 | Late Breaking | ESPE2024

Effects of Music at 432 Hz on Biological Stress Responses in Infants born Preterm and at Term

Cauzzo Chiara , Chiavaroli Valentina , Di Valerio Susanna , G B Derraik José , Rossi Claudia , Zucchelli Mirco , Lucia Tommolini Maria , Federici Luca , Coclite Eleonora , Mohn Angelika , Chiarelli Francesco

Background: Health professionals are increasingly aware that the acoustic environment in the Neonatal Intensive Care Unit may affect infants’ well-being. Where unpredictable noise adversely affects sleep and physiologic stability, meaningful auditory stimulation might have positive effects, primarily in the short term. Furthermore, evidence is now emerging regarding beneficial long-term effects on neurodevelopmental outcomes. Notably, recent literature s...

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hrp0098p2-348 | Late Breaking | ESPE2024

Do aromatase inhibitors used during adolescence affect male reproductive function in adulthood? An exploratory study.

Dai Chengjun , Ding Jingchao , Zhang Junrong , Zhu Jianfang , Fang Yanlang , Wang Chunlin

Purpose: Aromatase inhibitors are widely used in clinical practice and are currently employed in the treatment of adolescents with short stature. However, the impact of these inhibitors on the reproductive function in male adolescents remains unclear.Methods: The data of patient with short stature who had completed aromatase inhibition therapy between 2015 and 2022 at the First Affiliated Hospital of Zhejiang University ...

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hrp0098p2-349 | Late Breaking | ESPE2024

Correlation of Pituitary Volume/Size/Height with Clinical Factors in Growth Hormone Deficiency Patients: A Comprehensive Review

Alyafei Fawzia , Soliman Ashraf , Alaaraj Nada , Hamed Noor , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed

This comprehensive literature review identified studies reporting MRI findings related to pituitary volume in children with GHD. Studies were selected for their relevance to clinical correlations involving short stature, GH peak levels, IGF-1 levels, and therapy response.Results: The 30 studies reviewed highlight significant structural abnormalities in the pituitary gland of children GHD. Key findings include anterior pituitary hypoplasi...

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hrp0098p2-350 | Late Breaking | ESPE2024

The genetic and clinical aspects of 10 patients with GH-IGF-1 axis gene variants

Huang Xiaozhen , Chen Ruimin

Objective: This study analyzed ten short stature patients with growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis gene variants, and aim ed to explore both clinical and genetic characteristics, as well as the recombinant human growth hormone (rhGH) treatment response through a review of the literature.Methods: The clinical characteristics and response to rhGH treatment in 10 patients with GH1, GHR</...

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hrp0098p2-351 | Late Breaking | ESPE2024

Up to 5 years of once-weekly somatrogon treatment in pediatric patients with growth hormone deficiency: results from an open-label extension of a global Phase 3 study

Silverman Lawrence , Steelman Joel , Choe John , Stawerska Renata , Deal Cheri , Wajnrajch Michael , Thomas Marc , La Torre Daria , Phillip Moshe , Taylor Carrie , Wang Rong , Cara Jose

Objective: Somatrogon, a long-acting recombinant human growth hormone (rhGH) is approved as a once-weekly treatment for pediatric growth hormone deficiency (pGHD). This abstract describes the long-term efficacy and safety of somatrogon in patients with pGHD following up to 5 years of treatment in a global, Phase 3 study (NCT02968004).Methods: In the main study period, patients were randomized to receive either once-weekl...

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hrp0098p2-352 | Late Breaking | ESPE2024

Predictive factors for growth hormone response in the first year of treatment among children with growth hormone deficiency in Algeria

Kherra Sakina , Djermane Adel , Ouarezki Yasmine , Bouferoua Fadila , Bellouti Sihem , Sifour Latifa , Sahli Hassiba , Boutaghane Noureddine , Bensalah Meriem , Mohamedi Kahina , Chikh Amina , Ait Abdelkadder Belaid , Ladjouze Asmahane , Coutant Regis , Zeroual Zoulikha

Introduction: Several predictive factors of response to rGH have already been described in the literature such as age and height at the beginning of treatment, rGH dose and parental height status. However, few data exist on the predictive value of pre-therapeutic data on the response to rGH.The main objective of the study: is to identify predictive factors of the rGH response in children with GHD, with a particular inter...

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hrp0098p2-353 | Late Breaking | ESPE2024

Association between isolated growth hormone deficiency and Jansen de Vries Syndrome: a case report from a Romanian Paediatric Endocrinology Department

Pascu Bogdan , Mocanu Bianca , Taifas Diana

Background: Jansen de Vries Syndrome is a rare autosomal dominant neurodevelopmental condition characterized by delayed psychomotor development, dysmorphic features, behavioural problems and short stature. First described in 2017, the disorder is attributed to pathogenic variants in Exons 5 and 6 of the of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. The syndrome has been identified in 26 countries worldwide so far and it could be associated wi...

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hrp0098p2-354 | Late Breaking | ESPE2024

The IGF1 generation test as a tool to predict growth response to growth hormone treatment in children with growth hormone deficiency

Kherra Sakina , Ouarezki Yasmine , Djermane Adel , Sahli Hassiba , Sifour Latifa , Bellouti Sihem , Mohamedi Kahina , Boutaghane Noureddine , Bouferoua Fadila , Bensalah Meriem , Ladjouze Asmahane , Ait abdelkadder Belaid , Coutant Régis , Zoulikha Zeroual

Introduction: Serum levels of insulin growth factor (IGF1) could be a good indicator of growth hormone (GH) sensitivity and potentially GH therapy responsiveness. Few studies analyzed IGF1 generation test as predictor factor of the growth response to GH treatment in children with growth hormone deficiency (GHD) but results were controversial.Objective: The aimof the study was to evaluate the IGF-I generation test (IGF-I ...

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hrp0098p2-355 | Late Breaking | ESPE2024

A new score for the diagnosis of Growth hormone deficiency in prepubertal children

Djermane Adel , Ouarezki Yasmine , Kherra Sakina , Mohammedi Kahina , Boulesnane Kamelia , Bensalah Meriem , Ladjouze Asmahane , Ait Abdelkader Belaid , Maouche Hachemi

Introduction: The diagnosis of growth hormone deficiency (GHD) in childhood is challenging, because of the lack of a true gold standard and the relatively poor performance of available diagnostic testing. Many young children undergo unnecessary growth hormone stimulation tests (GHST).Objective: The aimof this study was to design and validate a predictive Score to diagnose children with GHD....

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hrp0098p2-356 | Late Breaking | ESPE2024

Severe oedema during treatment with long acting GH

Börschel-Thomsen Matthias , Simic-Schleicher Gunter

A 15 year old girl presented with severe symptomatic hypoglycaemia. Diagnostic work up revealed only a diminished GH secretion at and during severe hypoglycaemia and after arginine stimulation. Injection of GH twice daily abolished the hypoglycaemia for several days. For practicability a treatment with long acting GH (Ngenla) 46 mg/week was started. Symptoms were not entirely abolished, so that the dose was increased to 54 mg /week which was successful. However 2 weeks after t...

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hrp0098p2-357 | Late Breaking | ESPE2024

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

Ching Chen Suet , Alimussina Malika , Koley Sanhita , Shepherd Sheila , Eid Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , Chen JiaJia , Deyanova Yana , Fu Antony , Højby Michael , Augusto de Lima Jorge Alexander , Iotova Violeta , Januś Dominika , Markosyan Renata , S. Miller Bradley , Savendahl Lars , Nimali Seneviratne Sumudu , Guftar Shaikh M , Shenoy Savitha , J W Tack Lloyd , Wasniewska Malgorzata , Faisal Ahmed S

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

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hrp0098p2-358 | Late Breaking | ESPE2024

Cross-sectional Insights into the Effects of Heavy Metal Mixtures on Height among Korean Preschoolers: Findings from the Korean National Environmental Health Survey Cycles 3 and 4

Won Shin Min , Kim Shin-Hye

Background and objectives: Previous studies on the influence of toxic metals on children's growth have produced mixed results, and research on the joint impact of metal exposure is limited. This study aim ed to investigate the association between exposure to heavy metal mixtures and growth measures in preschool-aged children in Korea.Methods: This study used data from the Korean National Environmental Health Survey ...

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hrp0098p2-359 | Late Breaking | ESPE2024

High Frequency of Copy Number Variations as Genetic Causes of Failure to Achieve Catch-Up Growth in Small for Gestational Age Children: A Multicenter Study in Korea

Lee Yena , Jae Kang Min , Rim Jeong Hwal , Young Kim Eun , Noh Eu-seon , young Jin Hye , Byul Kwon Eun , Jin Lee Hye , Seo Young-Jun , Young Kim Nan , Hong Sangkyoon , Hong Il-Tae

Background: Small for gestational age (SGA) children are defined by birth weight and/or length at least 2 standard deviations (S.D) below the population mean for gestational age. Up to 90% of these infants experience catch-up growth within the first two years of life; however, 10-15% fail to do so, remaining short at age 2 (SGA-SS). The etiology of failure to achieve catch-up growth remains largely unknown.Methods: This ...

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hrp0098p2-360 | Late Breaking | ESPE2024

Bone Healt in young patients with Turner Syndrome: crossectional and longitudinal retrospective data.

Casalini Emilio , Sartorelli Sara , Angelelli Alessia , Fava Daniela , Elsa Maria Allegri Anna , Napoli Flavia , Tedesco Caterina , Maghnie Mohamad , Di Iorgi Natascia

Introduction and Objectives: Data on bone health in young Turner Syndrome (TS) patients (pts) are scarce. aims of the study were: to evaluate lumbar (L1-L4) and total body (TBLH) bone mineral density (BMD) in a cohort of TS between 5-25 yrs; to assess the prevalence and the incidence of fractures (fx), bone turnover markers (BTM) and determinants of dual-X-ray-absorbiometry (DXA) parameters.Methods: Antropometrics, BMT (...

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hrp0098p2-361 | Late Breaking | ESPE2024

Assessment of Growth Hormone Treatment in Korean Pediatric Growth Disorders: 11-Year Interim Analysis from the LG Growth Study

Hee Hong Yong , Kim Jaehyun , Chae Hyun-Wook , Ah Lee Young , Sang Lee Hae , Mi Kim Yoo , Hye Kim Ja , Bae Ahn Moon , Rhie Young-Jun

Objectives: This study aim ed to evaluate the safety and effectiveness of recombinant human growth hormone (rhGH) treatment, using specific products (Eutropin®, Eutropin®Pen, Eutropin®AQ, Eutropin®Plus and Eutropin®SPen; LG Chem, Ltd.), in pediatric patients with growth disorders in Korea.Methods: The safety analysis included all eligible patients who received at least one dose of rhGH. The effectiven...

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hrp0098p2-362 | Late Breaking | ESPE2024

Unusual response to estrogen replacement therapy complicated by ovarian cyst in a girl with Turner syndrome

Dyrka Kamil , Kapczuk Karina , Niedziela Marek , Obara-Moszynska Monika

Background: Ovarian dysfunction is one of the most common features of Turner syndrome (TS). Oocyte apoptosis is accelerated from early fetal life, more typical for 45,X karyotype. Hypergonadotropic hypogonadism (HH) is characteristic manifestation of dysgenetic ovaries, and estrogen replacement therapy (ERT) is standard for delayed puberty. Development of ovarian follicles is largely under FSH control, and possible ovarian hyperstimulation of elevated FSH in T...

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hrp0098p2-363 | Late Breaking | ESPE2024

Clinical and Genetic Features of Chinese Patients with Geleophysic and Acromicric Dysplasias due to FBN1 Mutations: A Case Series

Hou Lele , Liu Zulin , Zhang Lina , Ou Hui , Huang Siqi , Dai Huilian , Wang Dilong , Meng Zhe , Liang Liyang

Objective: This study aim ed to report four Chinese patients due to FBN1 mutations including one with geleophysic dysplasia (GD) and three with acromicric dysplasia (AD), and analyze the clinical and genetic features of all Chinese patients.Methods: The clinical features, laboratory tests and gene mutations of four Chinese patients with GD and AD were reported, and literatures were reviewed to analyze the clinic...

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hrp0098p2-364 | Late Breaking | ESPE2024

The Influence of puberty timing on the development of metabolic Syndrome in Turner Syndrome patients.

Yagoubi Latifa , Ourdi Amal , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Turner syndrome (TS) is a genetic disorder characterized by the partial or total absence of an X chromosome. It is the most frequent sex chromosome abnormality in females (1). Patients with TS are susceptible to a variety of metabolic abnormalities. Puberty is a sensitive phase of both physical and hormonal development, and its timing can impact the development of metabolic syndrome. This study aims to clarify the impact of the onset of puberty o...

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hrp0098p2-365 | Late Breaking | ESPE2024

The Diagnostic Yield of Exome Sequencing in Idiopathic Short Stature

Aljazaeri Sara , Alrubeh Zahra , Alabdi Lama , Alhuthil Raghad , Alsagheir Afaf , Alkuraya Fowzan

Background: Most children with short stature (SS) remain without a clear diagnosis despite extensive workup and are thus classified as idiopathic short stature (ISS). Whole exome sequencing (WES) in particular, has become a revolutionary approach in identifying monogenic causes of growth disorders. Therefore, this study aims to determine the diagnostic yield of WES in identifying the genetic etiology in children with ISS.Methods:...

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hrp0098p2-366 | Late Breaking | ESPE2024

The genomic landscape of children with short stature presenting to a tertiary hospital in UAE.

Jacob Anju , Gharaibeh Sarah , Jain Ruchi , Taylor Alan , Shenbagam Shruti , AbuTayoun Ahmad , Elabiary Mohamed , Thalange Nandu

Introduction: Short stature (SS) is one of the most common reasons for referral to a pediatric endocrinologist. SS is defined as a condition in which an individual's height is below the 3rd percentile for age and sex. SS may be caused by hormonal (eg. growth hormone deficiency), environmental (eg. intrauterine growth retardation) and genetic disorders (eg. Turner syndrome, Noonan syndrome). The evaluation of children presenting with SS comprises detailed ...

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hrp0098p2-367 | Late Breaking | ESPE2024

A Novel Case of Lipoatrophy Due to a Non-Pegylated Long-Acting Growth Hormone Somatrogon

Buyukgebiz Atilla , Demir And

Introduction: Recombinant growth hormone (rhGH) treatment has been used for growth hormone (GH) induced short stature since 1985, usually with transient adverse events, while lipoatrophy involves irreversible damage to subcutaneous fatty tissue. Biopsies show mast cells and eosinophils, suggesting destructive inflammation. GH directly increases lipolysis, reduces lipoprotein lipase activity, and decreases mature adipocyte number and volume, inhibiting adipose ...

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hrp0098p2-368 | Late Breaking | ESPE2024

Unusual presentation of Wolfram syndrome in children with urinary tract dysfunctions.

Abdushelishvili Nino , Tsanava Medea , Gordeziani Tinatin

Background: WS is a rare, severe neurodegenerative disease. Despite the certain sequence of development of clinical manifestations during this syndrome, for each patient the expression of the spectrum, sequence, age and severity of the disease is unique. In recent years, the cases of urinary tract dysfunction (UTD) in this syndrome have also increased. We had 2 such cases with UTD in our practice. Here we report one of them.Case ...

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hrp0098p2-369 | Late Breaking | ESPE2024

Management challenges of an infant with multiple endocrinopathies with McCune Albright Syndrome: A Case Report

Wijalathgedera Oshan , Damayanthi Liyanage Lasika , Suntharesan Jananie

Introduction: McCune Albright syndrome (MAS) is a rare genetic disorder characterized by a triad of hyperpigmentation, endocrinopathies, and fibrous dysplasia (FD), caused by post-zygotic somatic mutations. Hyperthyroidism is the second most common endocrinopathy in MAS and poses significant management challenges in infants.Case History: 7-month-old infant girl born to non-consanguineous parents, who presented with per v...

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hrp0098p2-370 | Late Breaking | ESPE2024

Multiple acyl coa dehydrogenase deficiency complicated with steroidogenic diabetes: A case report

Dilong Wang , Liang Liyang

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MAD...

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hrp0098p2-371 | Late Breaking | ESPE2024

An exploration of a data visualisation web application for rare disease registries.

Panchigar Krish , Tonge Joseph , Bacila Irina , Bryce Jillian , Alimussina Malika , Koley Sanhita , Faisal Ahmed S , R. Lawrence Neil , Krone Nils

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

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hrp0098p2-372 | Late Breaking | ESPE2024

Caregiver-reported quality of life of patients with MCT8 deficiency: results from a cross-sectional survey

Ofori Akosua , Larkin Mark , Georges Nadia

Introduction: Monocarboxylate transporter 8 (MCT8) deficiency is an ultra-rare genetic disease, associated with severe cognitive and motor disability and symptoms of chronic peripheral thyrotoxicosis. The aimof this analysis is to describe the HRQoL impact experienced by patients with MCT8 deficiency as described by their caregivers.Methods: Informal caregivers of patients with MCT8 deficiency completed an online cross-s...

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hrp0098p2-373 | Late Breaking | ESPE2024

Screen time of children under five years old: repercussions on the habits and parents positioning.

Machado Pinto Renata , Victória Miranda Borges Bárbara , Soares Domingos de Sousa Isabella , da Silva Morais Lorena

Introduction: Excessive exposure of children to electronic devices is related to an increased risk for diabetes and obesity and greater chance of developing visual and cognitive disorders.Objective: To understand the time spent with screens (cell phone, tablet, computer, and television) by children under 5 years old in Goiânia-Goiás-Brazil and analyze the consequent impacts of this habit and parental positio...

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hrp0098p2-374 | Late Breaking | ESPE2024

Analysis of serum microplastics in girls with precocious puberty and its correlation with steroid hormones

Yin Xiaoqin , Zang Shaolian , Li Pin

Background: Microplastics (MPs) are recognized as new type of environmental pollutants with potential implications for human health. It can exist in the human body for a long time, are not easy to degrade, and accumulate in various organs. Studies have shown that it has reproductive toxicity and can directly affect the female gonads, causing ovarian toxicity, granulosa cell apoptosis, affecting uterine function, and even leading to infertility. Precocious pube...

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hrp0098p2-375 | Late Breaking | ESPE2024

Characteristics of pubertal development in turner syndrme along a 20 - year follow-up

Zhuan Ai Zhuan , Chen Ruimin

Background: Turner Syndrome (TS) is a chromosomal abnormality in females. Primary gonadal failure occurs in most individuals with TS, it is not a constant finding. The data regarding different patterns of pubertal development is limited, and no study performed a comprehensive clinical, hormonal, and imaging evaluation of TS girls throughout the pubertal period.Subjects and Methods: The medical records of 54 girls diagnos...

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hrp0098p2-376 | Late Breaking | ESPE2024

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

Bencivenga Debora , Stampone Emanuela , Palumbo Stefania , Hafiz Ali Akbar , Cirillo Grazia , Aiello Francesca , Miraglia del Giudice Emanuele , Borriello Adriana , Grandone Anna

Background: MKRN3 (Makorin Ring Finger Protein 3) is a maternally imprinted intronless gene located in the Prader-Willi syndrome locus (chromosome 15q11.2-q13). It is recognized that MKRN3 loss-of-function mutations are the primary cause of familial central precocious puberty (CPP). The MKRN3 protein primarily acts as an E3 ubiquitin ligase, and its activity is essential for controlling the timing of puberty, functioning as a brake on gonadotropin-releasing ho...

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hrp0098p2-377 | Late Breaking | ESPE2024

The etiology of Central Precocious Puberty and the Impact of Gonadotropin-Releasing Hormone Agonist Therapy: Albanian experience.

Gjikopulli Agim , Tomori Sonila , Kollcaku Laurant , Kurti Era , Velija Liljana , Cullufi Paskal

Introduction: Central precocious puberty (CPP) occurs when the HPG axis is activated prematurely. As a result, the affected child develops secondary sexual characteristics earlier than is typical for the average pediatric population. The child experiences accelerated bone maturation and premature closure of the epiphyseal growth plates, resulting in reduced adult stature. The mainstay of CPP treatment is a gonadotropin-releasing hormone analog (GnRHa) that sup...

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hrp0098p2-378 | Late Breaking | ESPE2024

Serum vascular endothelial growth factor-A (VEGF-A) levels regarding pubertal stage and obesity in girls

Nam Hyo-Kyoung , Kang Eungu , Jun Rhie Young , Lee Kee-Hyoung Kee-Hyoung

Objectives: Vascular endothelial growth factor-A (VEGF-A) is essential for normal growth plate morphogenesis and angiogenesis in adipose tissue. Childhood obesity may lead to early puberty in girls, however, it remains unclear whether early thelarche in overweight girls is related to central activation of the gonadotropin releasing hormone-gonadotropin axis. We assessed serum VEGF-A level regarding to pubertal stage and obesity in girls....

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hrp0098p2-379 | Late Breaking | ESPE2024

Hypothalamic obesity following craniopharyngioma surgery; what is the role of hypothalamic inflammation and gliosis?

Yurddas Doga , A.J. Nievelstein Rutger , Bison Brigitte , Hulsmann Sanne , Beckhaus Julia , L. Muller Hermann , M. van Santen Hanneke

Background: Childhood craniopharyngioma (cCP) poses significant risks of hypothalamic damage, leading to severe obesity in up to 75% of survivors. Despite hypothalamus-sparing surgical techniques, hypothalamic obesity remains a prevalent issue. We aim ed to fill a critical gap by exploring the presence of hypothalamic inflammation and gliosis following cCP surgery on MRI. In the future we will correlate our findings to subsequent hypothalamic dysfunction and o...

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hrp0098p2-380 | Late Breaking | ESPE2024

Effect of recombinant human growth hormone therapy on postoperative lipid metabolism in children with craniopharyngioma

Dilong Wang , Liang Liyang

Objective: Growth hormone deficiency (GH) is one of the most common complications in postoperative survivors of craniopharyngioma (CP), which is closely related to short stature. recombinant human growth hormone (rhGH) is often used to correct short stature in survivors after CP in children, but its safety is still controversial on the one hand, and its effect on glucose and lipid metabolism is unclear on the other hand. The purpose of this study is to monitor...

1 shares

hrp0098p2-381 | Late Breaking | ESPE2024

A Novel and Validated Noninvasive Method for Determining the Onset of Biochemical Puberty and Predicting Imminent Clinical Puberty

Demir And , Hero Matti , Juul Anders , M. Main Katharina

Objectives: We aim ed to validate first-morning-voided (FMV) total urinary luteinizing hormone immunoreactivity (U-LH-ir) as a marker for the onset of biochemical puberty and as a noninvasive method to predict the imminent onset of clinical puberty.Methods: We analyzed 651 children (305 boys aged 2.8–17.8 years and 346 girls aged 2.6–18.0 years, both spanning Tanner stages 1-5) across two distinct cohorts. In...

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hrp0098p2-382 | Late Breaking | ESPE2024

Testosterone Replacement Therapy in adolescents and young adults with Prader-Willi Syndrome: Efficacy and effects on behaviour

Trueba-Timmermans Demi , Flamman Wiebe , Grootjen Lionne , de Graaff Laura , Hokken-Koelega Anita , Rings Edmond

Introduction: Hypogonadism affects almost all males with Prader-Willi syndrome (PWS) and is associated with decreased bone mineral density (BMD). Testosterone Replacement Therapy (TRT) improves BMD and aids sexual maturation, but TRT could aggravate challenging behaviour that many patients with PWS already suffer from, causing reluctance in starting TRT in males with PWS. This study aims to provide more evidence on the effect of TRT on behaviour, BMD and body ...

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hrp0098p2-383 | Late Breaking | ESPE2024

Transcriptome Analysis of Adult Females Previously Affected by Central Precocious Puberty due to DLK1 Mutations

Bellido More Candy , Ortiz Rojas César , Pinheiro-Machado Canton Ana , Nahime Brito Vinicius , Claudia Latronico Ana

Background: Loss-of-function mutations in the Delta Like Non-Canonical Notch Ligand 1 (DLK1) gene have been identified in patients with central precocious puberty (CPP) and were associated with metabolic and reproductive alterations at adulthood.Objectives: To evaluate the effects of DLK1 loss-of-function mutations on metabolism and other biological process in adult women who had previously CPP in child...

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hrp0098p2-384 | Late Breaking | ESPE2024

Incidence study of central precocious puberty in the population of goiás-brazil: the covid-19 pandemic has changed epidemiology.

Machado Pinto Renata , Luz Castelo Branco De Souza Gabriela , Moraes Magalhães Gustavo , Gelinski Isabely , Felipe Macedo Silva Luiz , Pereira Pinto Roney

Introduction: An increase in the number of cases of central precocious puberty (CPP) was observed in outpatient clinics in various centers around the world during the COVID-19 pandemic. It is believed that the adoption of specific social behaviors, and the virus infection itself may have influenced the increase in cases of CPP.Objective: To analyze the epidemiology and clinical characteristics of cases of CPP in the stat...

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hrp0098p2-385 | Late Breaking | ESPE2024

Integrating Genetic Testing in the Evaluation of Boys with Central Precocious Puberty: A Portuguese Nationwide Study

Galo Elisa , Vidal Castro Sofia , Amaral Daniela , Espada Filipa , Brandão Carla , Luísa Leite Ana , Ferreira Sofia , Caetano Francisco , Cerqueira Rita , Limbert Catarina

Introduction: Precocious development of secondary sexual characteristics in both sexes indicates early reactivation of the hypothalamic-pituitary-gonadal axis, known as central precocious puberty (CPP). CPP should be considered in males under nine years old when testicular volume exceeds 4 milliliters. This condition is rare (1 male per 15 girls), and secondary causes must be promptly excluded due to the higher likelihood of intracranial pathology. Recent stud...

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hrp0098p2-386 | Late Breaking | ESPE2024

Insulin resistance is frequent in non-obese adolescent girls with irregular menstruation and/or clinical hyperandrogenism

Erden Fırat Deniz , Abacı Ayhan , Böber Ece , Demir Korcan

Background: Insulin resistance is predominantly associated with obesity. The euglycemic hyperinsulinemic clamp test, the gold standard for diagnosis of insulin resistance, has limited practical application. Although oral glucose tolerance test (OGTT) is generally used instead, there remains a need for more practical methods in outpatient clinics.Aim: The objective of this study is to assess the outcomes of the OGTT in no...

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hrp0098p2-387 | Late Breaking | ESPE2024

Development and validation of central precocious puberty diagnostic prediction models in girls based on machine learning

Wu Wenyong , Chen Ruimin

Objective: The models of diagnosis of central precocious puberty (CPP) in girls were constructed based on machine learning algorithm to assist the management of CPP diagnosis in girls.Methods: Girls who visited the department of endocrinology, genetics and metabolism of the Fuzhou Children's Hospital of Fujian Medical University from January 2014 to June 2023 and were consistent with the diagnosis of precocious pube...

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hrp0098p2-388 | Late Breaking | ESPE2024

IRS-1 as a key point in the regulation of insulin-sensitivity in granulosa cells from PCOS women.

Buia Veronica , Catellani Cecilia , Croci Stefania , Zerbini Alessandro , Righi Beatrice , Morini Daria , Falbo Angela , Nicoli Alessia , De Fanti Alessandro , Teresa Villani Maria , Sartori Chiara , Elisabeth Street Maria

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women and is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and often by insulin-resistance. However, little is really known on insulin/IGF signalling in PCOS ovaries. This study aim ed to investigate the amount of Insulin (IR) and IGF-I receptor type I (IGF-IR1) and their intracellular mediators in granulosa cells from PCOS women with r...

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hrp0098p2-389 | Late Breaking | ESPE2024

A comprehensive overview of the changes in IGF system peptides in the follicular fluid (FF) of women with Polycystic Ovarian Syndrome (PCOS) and their relationships with BMI and HMGB1

Buia Veronica , Catellani cecilia , Croci Stefania , Zerbini Alessandro , Righi Beatrice , Morini Daria , Falbo Angela , Nicoli Alessia , De Fanti Alessandro , Teresa Villani Maria , Sartori Chiara , Elisabeth Street Maria

Background: PCOS is characterised by chronic low-grade inflammation, ovulatory dysfunction, hyperandrogenism, and insulin-resistance. The IGFsystem includes IGF-I, -II and seven IGFBPs, which regulate IGFbioavailability. Chronic inflammation modifies the IGF system that regulates ovarian function and glucose metabolism. HMGB1 is related with both inflammation and insulin sensitivity;we previously described increased HMGB1 FF in PCOS. This study aim ed to inves...

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hrp0098p2-390 | Late Breaking | ESPE2024

Histological Progression and Malignancy Risk in 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Insights from Infancy to Adulthood

Wang Yunpeng , Zhu Jing , Zhu Min

Background: 46, XY disorders of sex development (DSD) due to 17-beta-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency significantly affect male sex development. Understanding the histological changes from infancy to adulthood in these patients remains limited. This study presents six patients with 17β-HSD3 deficiency from a single center, including China’s first prenatally diagnosed and postnatally confirmed case, and conducts a system...

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hrp0098p2-391 | Late Breaking | ESPE2024

QT Interval Dynamics in Transgender/Gender diverse Adolescents on GnRHa and Gender-Affirming Hormonal Therapy: A Comparative Analysis

Zaitoon Hussein , Kapusta Livia , Israeli Galit , Segev-Becker Anat , Beer Gil , Oren Asaf , Perl Liat

Background: The QT interval, corrected for sex and heart rate (QTc), measures the duration of the cardiac action potential and can indicate the risk of arrhythmias. The QT interval is typically longer in women compared to men; a phenomenon often attributed to estrogen's effects. However, conflicting data exist regarding the effects of gonadotropin-releasing hormone agonist (GnRHa) and gender-affirming hormonal treatment (GAHT) on QT intervals and dispersi...

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hrp0098p2-392 | Late Breaking | ESPE2024

Identification of Three Novel PPP1R12A Variants From Whole Genome Sequencing in Individuals with Differences of Sex Development (DSD)

Atlas Gabby , Van den Bergen Jocelyn , MacKenzie Karen , Pachter Nicholas , Robevska Gorjana , Tucker Elena , O'Connell Michele , Tan Tiong , Ayers Katie , Sinclair Andrew

Our understanding of the genomic basis of Differences of Sex Development (DSD) remains incomplete, despite significant research effort and technological development in unravelling the complex network of genes that regulate gonadal development. While use of massively parallel sequencing has resulted in higher rates of identification of pathogenic or likely pathogenic variants, an accurate diagnosis is lacking for many individuals with DSD. Variants in PPP1R12A (protein...

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hrp0098p2-393 | Late Breaking | ESPE2024

Transcriptomic analysis of peripheral blood mononuclear cells reveals immune and metabolic pathways associated with both puberty-blockade and gender-affirming sex hormone therapy in young transgender individuals

Cross Heather , Peckham Hannah , Peng Junjie , Radziszewska Ania , Butler Gary , Jury Elizabeth , Rosser Elizabeth , A Robinson George , Ciurtin Coziana

Introduction: Sex differences associated with inflammation have been observed across numerous autoimmune and cardiometabolic conditions. We aim ed to explore the differential impact of sex hormones/sex chromosomes on molecular pathways potentially relevant for immune cell functions using a unique post-pubertal transgender cohort.Methods: RNA-sequencing was performed on peripheral blood mononuclear cells (PBMCs) from a he...

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hrp0098p2-394 | Late Breaking | ESPE2024

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

Guimaraes Faria Aline , R Montenegro Luciana , Augusto Lima Jorge Alexander , Matsunaga Martin Regina , Candida B. V. Fragoso Maria , R Tinano Flavia , E Seraphim Carlos , Pinheiro Machado Canton Ana , Garcia Gomes Larissa , A Martos-Moreno Gabriel , Tarjuelo García Irene , Carcavilla Atilano , Tirado-Capistros Mireia , Christina Souza-Pinto Nadja , Argente Jesús , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: GNAS activating mutations are the genetic basis of McCune-Albright syndrome (MAS). Peripheral precocious puberty (PPP) due to functional ovarian cysts, with or without MAS features, denotes a potential GNAS -related disorder.Aim: To explore GNAS somatic mutations (p.R201C/H) in peripheral leukocyte DNA using ddPCR in girls with ovarian-origin PPP with or without MAS.<p class="ab...

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hrp0098p2-395 | Late Breaking | ESPE2024

Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome

Surau Joline , Grasemann Corinna , H. Gravholt Claus , Breen Chris , Aksglaede Lise , Alimussina Malika , Bauer Jens , Boettcher Claudia , Bryce Jillian , Carlomagno Francesco , E. Hannema Sabine , Lucas-Herald Angela , Isidori Andrea , Mazen Inas , Nordenstroem Anna , Faisal Ahmed S

Klinefelter Syndrome (KS) affects an estimated 1 in 500-750 male births, yet over 50% of cases remain undiagnosed. Initially characterized as a condition with post-pubertal gonadal failure, KS is now recognized to involve numerous associated signs, symptoms, and comorbidities, underscoring the need for a multidisciplinary care approach. However, the clinical care of people with KS is variable and is rarely supported by good evidence. To better understand the natural history an...

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hrp0098p2-396 | Late Breaking | ESPE2024

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

Florsheim Natan , Cohen Amitay , Abu-Libdeh Abdulsalam , Naugolni Larisa , Landau Zohar , Mendelson Espen , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Ovarian Dysgenesis (OD) is a rare genetically heterogeneous XX Disorder of Sex Development. It presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel genetic causes of OD, we are investigating families with one or more patients diagnosed with OD.Methods: Using a patient-based approach, WES was per...

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hrp0098p2-397 | Late Breaking | ESPE2024

The molecular genetic etiology of POI in non-Turner syndrome girls diagnosed in childhood or adolescence: A single-center experience

Akın Leyla , Yılmaz Ayşegül , Ilguy Muge , Aydın Murat

Background: Primary ovarian insufficiency (POI), characterized by amenorrhea with elevated gonadotropin concentrations, includes a spectrum ranging from 46, XX gonadal dysgenesis to premature menopause. There is increased evidence that it has a strong genetic basis in its etiology, however, since its rarity and special condition that does not permit the definition of families with this disorder, the molecular diagnosis remains elusive in most of these patients...

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hrp0098p2-398 | Late Breaking | ESPE2024

Orbital myositis revealing TRAb negative Graves’ disease: an exceptional situation

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: Graves' disease (GD) is an autoimmune hyperthyroidism characterized by the presence of TSH receptor antibodies (TRAb) present in 95% of cases. GD is the most common cause of exophthalmos, which is unilateral in 15% of cases, and falling within the framework of Graves orbitopathy (GO). GO concerns half of patients with GD. The presence of GO is very rare in patients with negative TRAb.Observation: This ...

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hrp0098p2-399 | Late Breaking | ESPE2024

Mutations in THRB gene are associated with combined congenital hypothyroidism and TSH resistance.

Awad Mohammad , Thalange Nandu , El Abiary Mohamed

Background: Resistance to thyroid hormone (RTH) is a rare clinical syndrome characterized by end organ resistance due to mutations in the thyroid hormone receptor (THRB) gene. The combination of RTH and congenital hypothyroidism (associated with thyroid agenesis or ectopic gland) has been reported in at least 6 genetically proven cases.Case report: We report an 8-year-old girl, diagnosed with congenital hypothyroidism at...

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hrp0098p2-400 | Late Breaking | ESPE2024

Children's Thyroid Health: Impact and Recovery Patterns

Bingöl Aydın Dilek , Öztürk Esra , Özer Yavuz , Ercan Oya

Introduction: The impact of COVID-19 on the thyroid axis is still unclear. The most recent studies have presented contradictory findings. Theoretically, both direct toxic effects and indirect inflammatory responses can influence thyroid functions. A limited number of studies conducted in pediatric patients have revealed cases of hypothyroidism, hyperthyroidism, and nonthyroidal illness syndrome occurring during the COVID-19 infection.<st...

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hrp0098p2-401 | Late Breaking | ESPE2024

Euthyroid graves’ ophtalmopathy in an adolescent sero-negative for TSH receptor autoantibody: a case report

Sifour Latifa , Kherra Sakina , Bellouti Sihem , Sahli Hassiba , Zeroual Zoulikha

Introduction: Thyroid ophthalmopathy, also known as Graves ophthalmopathy, is an autoimmune condition that can affect the orbital and periorbital tissue. Antibodies stimulating the TSH receptor (TRAb) are thought to be involved in the pathogenesis of this disease. Our report describes a case of Graves’ ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody.<p ...

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hrp0098p2-402 | Late Breaking | ESPE2024

Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

Gulal Gonul , Erozan Cavdarlı Busra , Bilge Koca Serkan , Toksoy Adiguzel Keziban , Topaloglu Oya , Aydin Cevdet , Hepsen Sema , Cakal Erman , Semerci Gunduz Nur , Boyraz Mehmet , Gurbuz Fatih , Demirbilek Huseyin

Background: Resistance to thyroid hormone β (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aim ed to evaluate the clinical, laboratory features, and genotype-phenotype relationship of Turkish patients with RTHβ.Patients and Methods: Patients who underwent a THRβ gene analysis betwe...

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ESPE Abstracts

62nd Annual ESPE (ESPE 2024)

BiosciAbstracts