hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...

hrp0095t20 | Section | ESPE2022

Sensitivity to thyroid hormones and cardiometabolic risk in euthyroid obese children: a cross-sectional study.

Tropeano Angelo , Corica Domenico , Lorenza Curatola Selenia , Li Pomi Alessandra , Alibrandi Angela , Pepe Giorgia , Aversa Tommaso , Wasniewska Malgorzata

Background: The typical biochemical phenotype related to obesity, that is high serum thyrotropin (TSH) within normal range, low/normal free thyroxine (FT4) and increased free triiodothyronine (FT3) levels, can be interpreted as a resistance to thyroid hormones. It is unclear the role played by thyroid hormones in the pathogenesis of metabolic derangement associated with obesity.Aim: To investigate the association between...

hrp0094p1-39 | Fat, Metabolism and Obesity A | ESPE2021

Serum endocan as a predictive biomarker of cardiovascular risk in obese pediatric patients

Curatola Selenia , Mandraffino Giuseppe , Morace Carmela , Scuruchi Michele , Serrano Angela Elvira , Tropeano Angelo , Wasniewska Malgorzata , Valenzise Mariella ,

Introduction: Endocan is a soluble dermatan sulfate PG (50kDa), composed by 165 amino acid core protein, that is expressed and secreted by endothelial cells of dermal microvasculature, coronary, pulmonary arteries, and capillaries from adipose tissue. It plays an important role in the pathogenesis of vascular disorders, inflammation, and neoangiogenesis. Endocan biosynthesis is upregulated by inflammatory cytokines like TNF-α,IL-1, TGF-β1, and by pro...

hrp0094p1-97 | Thyroid A | ESPE2021

The association between serum Thyrotropin within the reference range and cardiometabolic risk in obese children

Tropeano Angelo , Corica Domenico , Curatola Selenia L. , Pomi Alessandra Li , Casto Celeste , Pepe Giorgia , Aversa Tommaso , Alibrandi Angela , Wasniewska Malgorzata ,

Background: The adaptative increase of serum thyrotropin (TSH) levels in obese subjects may affect the metabolic regulation of body tissues and thus promote an unfavorable cardiometabolic profile.Aim: To investigate the association between serum TSH, free thyroxine (FT4) and cardiometabolic risk factors in euthyroid obese children and adolescents.Material and Methods: Four hundred ninety-one Caucas...

hrp0089p2-p343 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Biochemical, Structural and Functional Characterization of a Novel P450 Oxidoreductase Mutation Causing Virilization in a 46,XX Patient

Camats Nuria , Benito-Sanz Sara , Parween Shaheena , Lopez-Siguero Juan-Pedro , Fernandez-Cancio Monica , Fluck Christa E , Udhane Sameer S , Kagawa Norio , Audi Laura , Pandey Amit V

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...

hrp0098fc8.1 | Adrenals and HPA Axis 2 | ESPE2024

Quantitative proteomics of pediatric adrenocortical tumors provides insights into zone of origin and identifies overrepresented pathways

Metousis Andreas , E. Fincke Victoria , A. Wudy Stefan , Jüttner Eva , Kunstreich Marina , D. Johann Pascal , Redlich Antje , Schweizer Lisa , Claus Rainer , Mann Matthias , Kuhlen Michaela

Introduction: Pediatric adrenocortical tumors (pACT), comprising highly malignant pediatric adrenocortical carcinomas (pACCs) and less aggressive adenomas (pACAs), present a rare yet clinically significant challenge. pACTs often pose a diagnostic and therapeutic dilemma due to their elusive differentiation and resistance to therapy. Originating from the adrenal cortex, pACTs are functional and, thus, characterized by a unique urinary steroid metabolome. This s...

hrp0095lb15 | Late Breaking | ESPE2022

Examining Sedentary and Activity Status Predictors in Adolescents and Their Implications for Diabetes Prevention

Balhara Maria

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

hrp0089s9.2 | Novel advances in endocrine imaging | ESPE2018

Novel CNS Imaging Techniques

Argyropoulou Maria

Novel CNS imaging techniques is a fast advancing field with frequent new developments in scanner’s hardware, protocols, clinical indications, and post-processing techniques. These techniques are designed to focus on the assessment of functional tissue characteristics, such as neuronal activity (functional MRI- fMRI), microstructural properties (diffusion tensor imaging-DTI) and tissue perfusion (DSC perfusion, ASL). fMRI reveals brain activation during performance of beha...

hrp0089na1.1 | The clinical relevance of metabolomics; genomic engineering - CRISP-R/Cas9 and its many implications | ESPE2018

The Clinical Relevance of Metabolomics

Klapa Maria

High-throughput biomolecular (omic) analyses enabled the simultaneous quantification of hundreds or thousands of transcripts, proteins, metabolites in a biological system, contributing to the identification of discriminatory multi-component molecular profiles of a pathophysiology. Molecular quantities being interconnected, even subtle differences in one can carry significance if viewed in the context of the observed changes in the rest of the molecules. We can now view molecul...