hrp0098p3-14 | Adrenals and HPA Axis | ESPE2024

Combined Therapy with GnRH Analogue, Aromatase Inhibitor, and Growth Hormone on Adult Height in Non-Classical Congenital Adrenal Hyperplasia: A Case Report

Sharifova Mirzayev Sabina , Derya Kardenel Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks...

hrp0098p3-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Incomplete penetrance and Variable Expressivity in Monogenic Diabetes

Chirayath Shiga , Al-Maraghi Aljazi , Mohammed Idris , Mohamadsalih Ghassan , Amin Rasha , Fakhro Khalid , Hussain Khalid

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...

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...

hrp0097fc14.4 | Late Breaking | ESPE2023

Improvement in insulin sensitivity and glucose metabolism in adolescents with obesity treated with once-weekly semaglutide 2.4 mg: a secondary analysis of the STEP TEENS trial

Arslanian Silva , Goldman Bryan , Gies Inge , M. Harder-Lauridsen Nina , Karlsson Tobias , Kelly Aaron , Wabitsch Martin , Weghuber Daniel

Obesity in adolescents is associated with increased risk of prediabetes and type 2 diabetes (T2D) and long-term complications in adulthood. Data regarding the effects of anti-obesity medications on glycaemic outcomes in adolescents are sparse. STEP TEENS (NCT04102189), a phase 3a, double-blind, placebo-controlled randomised trial in adolescents 12 to <18 years of age with obesity demonstrated that once-weekly subcutaneous semaglutide 2.4 mg provided a greater percentage red...

hrp0092fc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Age and Gender-Specific Reference Data for High-Resolution Magnetic Resonance Based Musculoskeletal Parameters in Healthy Children and Young People

Elsharkasi Huda M. , Chen ¹Suet C. , Steell Lewis , Joseph Shuko , Abdalrahman Naiemh , Johnston Blair , Foster John E. , Wong Sze C. , Ahmed S. Faisal

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

hrp0092p1-345 | Fat, Metabolism and Obesity (2) | ESPE2019

ANGPTL-4 in Children and Adolescents: Relation to Gender, Puberty and Obesity

Barja-Fernández Silvia , Folgueira Cintia , Castelao Cecilia , Pena-León Verónica , González-Saenz Patricia , Vázquez-Cobela Rocío , Aguilera Concepción M , Gil-Campos Mercedes , Bueno Gloria , Gil Ángel , Moreno Luis , Ruiz-Piñon Manuel , García-Palacios María , Casanueva Felipe F , Dieguez Carlos , Nogueiras Rubén , Seoane Luisa M. , Leis Rosaura

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

hrp0086p2-p646 | Growth P2 | ESPE2016

Metabolic Parameters and Glucose Homeostasis in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting

Ahmid M , McMillan M , Ahmed S F , Shaikh M G

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

hrp0097fc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia: Results in Children Aged Over 2 Years Old from a Phase II Extension Study with Vosoritide

Savarirayan Ravi , Irving Melita , R Wilcox William , Harmatz Paul , Phillips John , III , E Polgreen Lynda , Tofts Louise , Ozono Keiichi , Arundel Paul , A Bacino Carlos , Basel Donald , B Bober Michael , Charrow Joel , Mochizuki Hiroshi , Kotani Yumiko , M. Saal Howard , Han Lynn , Sabir Ian , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

hrp0094p2-155 | Diabetes and insulin | ESPE2021

Dyslipidaemia in children with type 1 diabetes mellitus

Nikolaeva Nadezhda , Gumeniuk Olga , Bolotova Nina ,

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...