hrp0098t17 | Top 20 Posters | ESPE2024

Burden of disease across age groups in individuals with hereditary hypophosphatemia – a retrospective Danish register study

Sparre Beck-Nielsen Signe , Faergemann Hansen Rikke , Ege Johansen Ulla , Williams Angela

Background: Hereditary hypophosphatemia (HH) are rare diseases, characterized by excessive renal phosphate wasting.Aim: The study aims to describe the burden of disease across age groups in individuals with HH.Methods: The case population was identified in the Danish National Patient Register (DNPR) from 1977 to 2019 based on relevant diagnosis codes. A journal audit was performed ...

hrp0095fc5.1 | Adrenals and HPA Axis | ESPE2022

Transcriptome profiling of adrenocortical tumors from children with unfavorable disease presentation.

Bueno Ana C , da Silva Jr Rui M P , Stecchini Mônica F , Cardinalli Izilda A , Junqueira Thais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra NZ , Brandalise Silvia R , Yunes José A , Vêncio Ricardo ZN , de Castro Margaret , Antonini Sonir R

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

hrp0098fc15.5 | Late Breaking | ESPE2024

Presence of neuropathy in children and adolescents with type 1 diabetes evaluated with bedside modalities

Agner Damm Julie , Dalgas-Madsen Amalie , Hansen Christian , Ascanius Pilgaard Kasper , Pociot Flemming , Willum Hansen Tine , Johannesen Jesper

Aims: To investigate the prevalence of diabetic polyneuropathy (DPN), cardiac autonomic neuropathy (CAN) and sudomotor dysfunction in children and adolescents with type 1 diabetes using bedside modalities. Secondly, to evaluate the co-existence of these types of diabetes neuropathies.Methods: Cross-sectional study including 221 children and adolescents with type 1 diabetes. DPN was assessed by vibration sensation thresho...

hrp0098p1-24 | Diabetes and Insulin 1 | ESPE2024

Associations between arterial stiffness and metabolic target in children and adolescents with type 1 diabetes treated in a modern setting

Agner Damm Julie , Dalgas-Madsen Amalie , Krog Bech Agnes , Ascanius Pilgaard Kasper , Pociot Flemming , Willum Hansen Tine , Johannesen Jesper

Objective: To investigate the prevalence of elevated arterial stiffness and associations to known and potentially novel risk factors in a modern European technology-based cohort of children and adolescent with type 1 diabetes.Research Design and Methods: Cross-sectional study including 127 children recruited from Pediatric Diabetes Departments across Eastern Denmark between May 2022 and January 2024. Arterial stiffness w...

hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0089p3-p150 | Fat, Metabolism and Obesity P3 | ESPE2018

Mother’s Obesity and High Child’s Waist Circumference are Predictive Factors of Severe Child’s Obesity: An Observational Study in French Guiana

Falucar Njuieyon , Emma Cuadro-Alvarez , Elise Martin , Noemie Lachaume , Yajaira Mrsic , Fanny Henaff , Chimene Maniassom , Antoine Defo , Narcisse Elenga

Background: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana.Methods: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient’s non opposition.Results: Our group classifications revealed that 36 of 150 (24%) participants were classified as being ...

hrp0084p1-27 | Diabetes | ESPE2015

Activation of Insulin Signaling in Gastrocnemius after Central Leptin Infusion is Associated with an Increase in Proliferation and Muscle Fibre Size

Barrios Vicente , Burgos-Ramos Emma , Canelles Sandra , Rodriguez Amaia , Gomez-Ambrosi Javier , Chowen Julie A , Fruhbeck Gema , Argente Jesus

Background: Skeletal muscle is the largest tissue involved in the insulin-stimulated disposal of glucose, with its size being controlled by hormonal status, among other factors. Leptin plays a primary role in the regulation of glucose homeostasis with a substantial degree of insulin and leptin cross-talk in muscle. However, the relationship between the leptin’s central effects on insulin sensitivity in muscle and associated structural changes remain unclear.<p class="...

hrp0097p1-1 | Adrenals and HPA Axis | ESPE2023

Circulating miRNA profile in adrenarche

Liimatta Jani , Murat Altinkilic Emre , Raitoharju Emma , Nicholson Pamela , Jääskeläinen Jarmo , Lakka Timo , Flück Christa

The physiology of adrenarche, i.e. the development of the zona reticularis of the adrenal cortex, is mostly unknow. Some genes of steroidogenic enzymes need to be down- (HSD3B2) while others upregulated (e.g. CYB5) to enhance androgen production in zona reticularis, but it is not known how this is regulated. Micro RNAs (miRNAs) are small non-coding RNAs that can affect gene expression at posttranscriptional level. We hypothesized that miRNAs might be involved in regulating adr...

hrp0098rfc14.4 | Fetal and Neonatal Endocrinology | ESPE2024

Neurodevelopmental response to nifedipine treatment in an infant with Congenital Hyperinsulinism due to de novo gain-of-function CACNA1D variant.

Pujari Divya , Conlon Alison , Wakeling Emma , Houghton Jayne , Flanagan Sarah , Eldred Carey , Starling Luke , Kaliakatsos Marios , Dastamani Antonia

Introduction: Congenital hyperinsulinism (CHI) is a rare condition often caused by variants in genes that regulate insulin production. Among the 30 genes identified, CACNA1D, which encodes L-type calcium channels in various cells, is a rare cause. Variants in CACNA1D lead to a multisystem disorder characterized by developmental delay, intellectual disability, autism, hypotonia, seizures, primary aldosteronism, CHI, hearing loss, visual issues...

hrp0098p2-15 | Adrenals and HPA Axis | ESPE2024

Premature Adrenarche, Body Composition and Metabolic Dysfunction – Characterisation of a Pilot Cohort

Ben Said Wogud , Cooper Lucy , Campbell-Hamilton Eloise , Parry Emma , Krone Ruth , Thangaratinam Shakila , Crabtree Nicola , Arlt Wiebke , Idkowiak Jan

Introduction: Early-onset androgen excess commonly presents in pre-pubertal girls as premature adrenarche (PA). Girls with PA have clinical signs of androgen excess, such as pubic/axillary hair, body odour, greasy hair, and moderately elevated adrenal androgens before their 8th birthday. There is conflicting evidence if girls with PA are at higher risk to have or develop metabolic dysfunction, or progress to developing Polycystic Ovary Syndrome (PCO...