hrp0095p1-533 | Growth and Syndromes | ESPE2022

Central Precocious Puberty in McCune Albright Syndrome: a case report.

Righi Beatrice , Peluso Francesca , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...

hrp0095p2-175 | Growth and Syndromes | ESPE2022

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

Righi Beatrice , Rosato Simonetta , Trimarchi Gabriele , Cattini Umberto , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

hrp0094p1-180 | Growth Hormone and IGFs B | ESPE2021

The miRNA network and the interplay between growth and cancer regulating pathways in prepubertal patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment

Catellani Cecilia , Ravegnini Gloria , Sartori Chiara , Righi Beatrice , Poluzzi Silvia , Predieri Barbara , Iughetti Lorenzo , Angelini Sabrina , Elisabeth Street Maria ,

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

hrp0097p1-53 | Fat, Metabolism and Obesity | ESPE2023

First results from the ongoing Med4Youth European study: comparing Mediterranean diet with a Low-Fat Diet for adolescents with obesity

Petraroli Maddalena , Shulhai Anna-Mariia , Messina Giulia , Rosi Alice , Bertolotti Elena , Maria Roberta Esposito Susanna , Scazzina Francesca , Elisabeth Street Maria

Obesity is increasing, and the related complications are well known. Clinical Trials related with specific diets are currently lacking in paediatrics. There is an increasing interest in Mediterranean diet (MD). The Med4Youth European study* has enrolled 240, 13- to 16-year-old subjects with a BMI above the 90th percentile(WHO curves) in a multicenter randomized controlled trial (Italy, Spain and Portugal) to evaluate the effects of MD. We present the data relative to the 80 su...

hrp0095rfc10.1 | GH and IGFs | ESPE2022

Clinical and biochemical predictors of Permanent Growth Hormone Deficiency (PGHD) at retesting

Petraroli Maddalena , Messina Giulia , Gnocchi Margherita , Lattanzi Claudia , D'Alvano Tiziana , Argentiero Alberto , Neglia Cosimo , Dora Patianna Viviana , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

hrp0095p1-532 | Growth and Syndromes | ESPE2022

Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene.

Petraroli Maddalena , Percesepe Antonio , Piane Maria , Gnocchi Margherita , Messina Giulia , Lattanzi Claudia , D'alvano Tiziana , Dora Patianna Viviana , Ormitti Francesca , Maria Roberta Esposito Susanna , Elisabeth Street Maria

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

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...

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...

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 ...