hrp0097p1-405 | Adrenals and HPA Axis | ESPE2023

Multicenter study on clinical, biochemical and ultrasonographic characteristics, therapeutic management and outcome of TART in males with congenital adrenal hyperplasia.

Corica Domenico , Baronio Federico , Janus Dominika , Russo Gianni , Ortolano Rita , Starzyk Jerzy , Rita Stancampiano Marianna , Salerno Mariacarolina , Felicia Faienza Maria , Grandone Anna , Curatola Selenia , Capalbo Donatella , Wasniewska Malgorzata

Objectives: 1. To describe the clinical, biochemical and testicular ultrasonographic features in a population of males with congenital adrenal hyperplasia (CAH) and Testicular Adrenal Rest Tumor (TART). 2. To identify factors related to the onset of TART. 3. To evaluate the therapeutic management and outcome of TART.Methods: Males with classic and non-classic 21β-hydroxylase-deficient CAH, diagnosed with TART, follo...

hrp0097p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A new GATA-4 mutation in a child with disorder of sex development and central precocious puberty

Luppino Giovanni , Corica Domenico , Valenzise Mariella , Briguglia Silvana , Bertelloni Silvano , Li Pomi Alessandra , Wasniewska Malgorzata , Aversa Tommaso , Christian Denzer , Martin Wabitsch

Background: Disorders of sex development (DSD) are often due to disruption of the genetic programs that regulate gonad development. Some genes have been identified in these developmental pathways such as DAX-1, SOX-9, GATA-4 and others. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. Congenital heart disease (CHD) and...

hrp0098p1-134 | Fat, Metabolism and Obesity 2 | ESPE2024

The prevention of childhood obesity is a priority: preliminary results of the "EpPOI: Education to Prevent Childhood Obesity" project

Anna Morabito Letteria , Porri Debora , La Rosa Elisa , Corica Domenico , Pepe Giorgia , Francesca Messina Maria , Valenzise Mariella , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Rapidly rising rates of childhood obesity (CO) are a current problem, and European and national data confirm the concern. CO comorbidities occur early and tend to persist into adulthood, negatively affecting long-term health. There is an urgent need to implement CO prevention programs, starting in the early years of life. In Southern Italy, an innovative health project, “EpPOI: Educate to Prevent Childhood Obesity,” has been establish...

hrp0095fc7.3 | Growth and Syndromes | ESPE2022

Italian long-term data on efficacy and safety of rhGH therapy in children with SHOX deficiency: the final report of a national survey performed into ISPED Growth Study Group.

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Elisabeth Maria , Parpagnoli Maria , Salerno Mariacarolina , Secco Andrea , Andrea Trettene Adolfo , Wasniewska Malgorzata , Pitea Marco , Faienza Mariafelicia , Delvecchio Maurizio , Corciulo Nicola , Tornese Gianluca , Filomena Madeo Simona , Iughetti Lorenzo

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

hrp0095p1-71 | Fat, Metabolism and Obesity | ESPE2022

Circulating mRNA and miRNA Signatures as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for molecular markers to predict outcomes of LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%) recruited to a prospective ‘multi-OMICS’ study granted by ESPE Research Unit, 159 subj...

hrp0095p1-283 | Fat, Metabolism and Obesity | ESPE2022

Single Nucleotide Polymorphisms (SNPs) Profile as Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Sobalska-Kwapis Marta , Antosz Aleksandra , Strapagiel Dominik , Seweryn Michal , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tomasso , Corica Domenico , A. Wudy Stefan , F. Hartmann Michaela , Hochberg Ze'ev

Context: The response to lifestyle modification (LSM) in children with obesity is variable and difficult to predict.Aim: A systematic search for identifying common single nucleotide polymorphisms (SNPs) to predict positive outcomes of LSM in pediatric obesity management, defined as decrease in BMI z-score (based on IOTF).Patients/Methods: Out of 240 children with obesity (BMI>97...

hrp0095p1-561 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype

Palumbo Stefania , Cirillo Grazia , Sanchez Gianmaria , Fachin Alice , Baldo Francesco , Grazia Pellegrin Maria , Cassio Alessandra , Carolina Salerno Maria , Maghnie Mohamad , Felicia Faienza Maria , Wasniewska malgorzata , Fintini Danilo , Giacomozzi Claudio , Ciccone Sara , Miraglia Del Giudice Emanuele , Tornese Gianluca , Grandone Anna

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

hrp0095lb14 | Late Breaking | ESPE2022

A formula to simplify the screening fot impaired glucose tolerance in youths with overweight or obesity.

Di Bonito Procolo , Rosaria Licenziati Maria , Gabriela Wasniewska Malgorzata , Corica Domenico , Di Sessa Anna , Miraglia del Giudice Emanuele , Morandi Anita , Maffeis Claudio , Felicia Faienza Maria , Mozzillo Enza , Calcaterra Valeria , Maltoni Giulio , Valerio Giuliana

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

hrp0092p1-53 | Fat, Metabolism and Obesity | ESPE2019

Age of Obesity Onset could be the First Indicator of Future Metabolic Complications – Preliminary Data of Prospective Multicenter Study

Gawlik Aneta , Wasniewska Malgorzata , Bereket Abdullah , Antosz Aleksandra , Aversa Tommaso , Corica Domenico , Kirkgoz Tarik , Turan Serap , Guran Tulay , Shmoish Michael , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze'ev

Context: The unified approach for obese children can result in therapeutic failure as obesity is a symptom of several conditions. It was previously suggested that only children with obesity onset beyond age 6 years will develop the metabolic syndrome and T2D. In turn, early childhood obesity carries a few times less risk of adult obesity comparing to that with the onset during juvenility.Aim: We determine the clinical an...

hrp0092p1-422 | Thyroid (2) | ESPE2019

Prospective Evaluation of Autoimmune and Non-Autoimmune Subclinical Hypothyroidism in a Large Cohort of Children and Adolescents with Down Syndrome

Pepe Giorgia , Corica Domenico , De Sanctis Luisa , Salerno Mariacarolina , Felicia Faienza Maria , Tessaris Daniele , Tuli Gerdi , D'Acunzo Ida , Aversa Tommaso , Alibrandi Angela , De Luca Filippo , Wasniewska Malgorzata

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...