hrp0095p1-303 | GH and IGFs | ESPE2022

Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report.

Righi Beatrice , Trimarchi Gabriele , De Fanti Alessandro , Garavelli Livia , Sartori Chiara , Elisabeth Maria

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

hrp0089rfc8.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

High Mobility Group Box 1 (HMGB1) is Increased in Adolescents with Polycystic Ovarian Syndrome (PCOS) and Decreases after Treatment with Myo-Inositol in Combination with α-Lipoic Acid (MYO+ALA)

Cirillo Francesca , Catellani Cecilia , Tridenti Gabriele , Vezzani Cristina , Lazzeroni Pietro , Sartori Chiara , Fulghesu Anna Maria , Losi Simona , Coradazzi Letizia , Amarri Sergio , Street Maria Elisabeth

PCOS treatment in adolescence should aim at improving ovarian function, based on the pathophysiology of this condition. We previously described in cystic fibrosis and then in the PCOS an increase in HMGB1, secondary to reduced cystic fibrosis transmembrane conductance regulator (CFTR) expression in the ovary, associated with insulin resistance and inflammation that both characterize PCOS. Inositols and ALA derivatives are considered a good therapeutic option for their possible...

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...

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...

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...

hrp0097p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

The IGF system shows changes in the follicular fluid of women with PCOS.

Sartori Chiara , Catellani Cecilia , Buia Veronica , Croci Stefania , Righi Beatrice , Morini Daria , Immacolata Falbo Angela , Nicoli Alessia , De Fanti Alessandro , Teresa Villani Maria , Elisabeth Street Maria

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

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...

hrp0089p1-p253 | Thyroid P1 | ESPE2018

Long Term Comparison between Liquid and Tablet Formulations of L-Thyroxine (L-T4) in the Treatment of Congenital Hypothyroidism (CH)

Vigone Maria Cristina , Ortolano Rita , Vincenzi Gaia , Pozzi Clara , Ratti Micol , Assirelli Valentina , Vissani Sofia , Cavarzere Paolo , Mussa Alessandro , Gastaldi Roberto , Mase Raffaella Di , Street Maria Elisabeth , Trombatore Jessica , Weber Giovanna , Cassio Alessandra

Introduction: Few studies have been published comparing the liquid and tablet formulations of L-T4 in pediatric patients, with a short follow-up period. Both formulations seemed to produce a rapid normalization of thyroid fuction with a tendency of a greater TSH inhibition in children taking the L-T4 liquid drops. The aim of our study is to compare the long-term effectiveness and saftey of both liquid and tablet L-T4 therapy in CH patients up to 3 years old via a multicenter s...