hrp0094p1-164 | Growth B | ESPE2021

Long-term efficacy and safety of rhGH in children with SHOX deficiency: preliminary data of a national Italian survey (on behalf of ISPED Study Group on Growth Factors and Puberty).

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Street Maria Elisabeth , Parpagnoli Maria , Trettene Adolfo Andrea , Wasniewska Malgorzata , Madeo Simona Filomena , Iughetti Lorenzo ,

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

hrp0098fc7.3 | GH and IGFs | ESPE2024

Growth hormone (GH) deficiency and subsequent replacement therapy trigger differential expression of specific miRNAs in males and females: not just a matter of height

Bianco Valentina , Ravegnini Gloria , Shulhai Anna-Mariia , Catellani Cecilia , Sartori Chiara , Righi Beatrice , Maria Roberta Esposito Susanna , Angelini Sabrina , Elisabeth Street Maria

Introduction: Growth hormone (GH) is essential for stimulating growth and cell proliferation through its effects on metabolism, cartilage and bone growth. We have conducted initial studies to find new biomarkers for GH deficiency and early treatment response, focusing on miRNAs expressed in both sexes. We aimed at investigating sex-specific differences in circulating miRNAs at baseline and after 3 months on GH treatment in a cohort of prepubertal children with...

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...

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...

hrp0092fc3.2 | Multi-system Endocrine Disorders | ESPE2019

CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis

Cirillo Francesca , Catellani Cecilia , Graziano Sara , Montanini Luisa , Smerieri Arianna , Lazzeroni Pietro , Sartori Chiara , Marmiroli Nelson , Amarri Sergio , Gullì Mariolina , Elisabeth Street Maria

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

hrp0092rfc14.3 | Adrenals and HP Axis | ESPE2019

MicroRNAs Change and Target Key Regulatory Genes Involved in Longitudinal Growth in Patients with Idiopathic Isolated Growth Hormone Deficiency (IGHD) on Growth Hormone (GH) Treatment

Cirillo Francesca , Catellani Cecilia , Lazzeroni Pietro , Sartori Chiara , Ravegnini Gloria , Bonvicini Federico , Predieri Barbara , Amarri Sergio , Iughetti Lorenzo , Angelini Sabrina , Elisabeth Street Maria

The growth response in patients undergoing GH treatment is variable depending both on the patient's basal conditions and on personal innate sensitivity to therapy. MicroRNAs (miRNAs) are epigenetic regulators of gene expression, and are recognised as important regulators of biological and metabolic processes. It is unknown at present whether miRNAs could be early biomarkers of response to GH treatment in a perspective of individualised medicine, and whether they could disc...

hrp0089p1-p221 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

High Mobility Group Box 1 (HMGB1) and Insulin-Like Growth Factor Binding Protein-2 (IGFBP-2) are Increased, Insulin Decreased and IL-6 Unchanged in Follicular Fluid (FF) from Polycystic Ovarian Syndrome (PCOS)

Cirillo Francesca , Catellani Cecilia , Lazzeroni Pietro , Sartori Chiara , Morini Daria , Nicoli Alessia , Amarri Sergio , La Sala Giovanni Battista , Street Maria Elisabeth

HMGB1 is a small-protein which reflects both inflammation and insulin-sensitivity. Inflammation and insulin-resistance are features of PCOS. IL-6 is important for ovarian function and can contribute to insulin-resistance. IGFBP-2 behaves like an acute-phase protein and is increased in chronic inflammation. It is also involved in the glucose-metabolism regulation and IGFBP-2 overexpression plays a protective role against insulin-resistance. Insulin functions as a co-gonadotropi...

hrp0084p1-73 | Fat | ESPE2015

Circulating miR146a and 486-5p are Altered in Obese Children with and Without Non-Alcoholic Fatty Liver Disease (NAFLD) and Correlate with Abdominal Fat and BMI

Montanini Luisa , Patianna Viviana D , Sartori Chiara , Predieri Barbara , Bruzzi Patrizia , Lazzeroni Pietro , Merli Silvia , Bergamaschi Paolo , Bernasconi Sergio , Iughetti Lorenzo , Street Maria Elisabeth

Background: MicroRNAs (miRNA) are small non coding RNA molecules, key regulators of metabolic pathways. Obesity is characterised by many metabolic changes. NAFLD is seen as a complication of obesity. FOXO-1, key regulator in insulin signalling, has been shown to be implicated in NAFLD. We previously identified miRNAs regulators of the FOXO-1 gene.Objective and hypotheses: To assess in serum whether the regulation of miR-146a and miR-486-5p, FOXO1 gene re...

hrp0094p2-405 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Serum high mobility group box 1 (HMGB1) levels are independently associated with glucose clamp-derived measures of insulin resistance in PCOS

Catellani Cecilia , Migazzi Matteo , Sartori Chiara , Dauriz Marco , Righi Beatrice , Cirillo Francesca , Villani Michela , Tosi Flavia , Moghetti Paolo , Street Maria Elisabeth

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...