hrp0095p1-51 | Diabetes and Insulin | ESPE2022

Health-related quality of life and metabolic control in children and young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown.

Predieri Barbara , Bruzzi Patrizia , Candia Francesco , Caccamo Paola , Sandoni Marcello , Stefanelli Francesca , Pugliese Marisa , Lucaccioni Laura , F. Madeo Simona , Iughetti Lorenzo

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

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...

hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

hrp0092p1-106 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Management and Treatment Outcome of Craniopharyngiomas in Young Children Before 4 Years of Age in Italy: Multicentre Collection of 16 Cases

Baronio Federico , Zucchelli Mino , Aversa Tommaso , Driul Daniela , Guzzetti Chiara , Iughetti Lorenzo , Matarazzo Patrizia , Parpagnoli Maria , Pedicelli Stefania , Pozzobon Gabriella , Salerno Mariacarolina , Zucchini Stefano

Introduction: Craniopharyngiomas (CP) are rare pediatric intracranial tumors (1.2-4%) with a peak of incidence between 5-14 years . We retrospectively reviewed data of 16 cases (M/F 4/12) diagnosed before 4 years of age (median follow up 7.2 years) from a cohort of 117 patients (pts) (M/F 56/41) diagnosed after 01/01/2000, followed-up in 14 Italian centres of pediatric endocrinology belonging to the Italian Society for Pediatric Endocrinology and Diabetolo...

hrp0089p3-p204 | GH &amp; IGFs P3 | ESPE2018

Children Born Small for Gestational Age Treated with Growth Hormone: Evolutionary Aspects

Vazquez Veronica Maria Padin , Costa David Albino Gomez , Garcia Aida Del Campo , Cordo Lourdes Rey , Martin Jose Luis Chamorro , Lorenzo Jose Ramon Fernandez

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...

hrp0089p2-p307 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

The Effect of GnRH-Analogue Therapy on the Quality of Life of Patients with Central Precocious Puberty and Their Families

Lucaccioni Laura , Pugliese Marisa , Manzotti Elena , Bruzzi Patrizia , Righi Beatrice , Poluzzi Silvia , Madeo Simona F , Bigi Elena , Predieri Barbara , Iughetti Lorenzo

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...

hrp0086p1-p744 | Pituitary and Neuroendocrinology P1 | ESPE2016

A Prospective Evaluation of Urinary Gonadotrophins for Assessment and Management of Pubertal Disorders

Lucaccioni Laura , McNeilly Jane , McMillan Martin , Kyriakou Andreas , Shaikh M. Guftar , Wong Sze Choong , Predieri Barbara , Iughetti Lorenzo , Mason Avril , Ahmed S. Faisal

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...

hrp0086p1-p924 | Thyroid P1 | ESPE2016

In Children with Autoimmune Thyroid Diseases the Association with Down syndrome can Modify the Clustering of Extra-Thyroidal Autoimmune Disorders

Aversa Tommaso , Valenzise Mariella , Corrias Andrea , Salerno Mariacarolina , Iughetti Lorenzo , Tessaris Daniele , Capalbo Donatella , Predieri Barbara , De Luca Filippo , Wasniewska Malgorzata

Background: Autoimmune diseases have a higher incidence and prevalence among the individuals with Down syndrome (DS) compared to chromosomally normal people (increased risk for thyroid, gut and islet autoimmunity, juvenile idiopathic arthritis) These findings provide insights into a very aggressive phenotypic expression of autoimmunity in DS children.Objective and hypotheses: To investigate for the 1st time whether the association with DS might per se mo...

hrp0082p2-d1-417 | Growth Hormone | ESPE2014

GH Stimulated Levels in Prader–Willi Syndrome During the Transition Period between Childhood and Adulthood

Grugni Graziano , Corrias Andrea , Di Candia Stefania , Fintini Danilo , Gargantini Luigi , Iughetti Lorenzo , Ragusa Letizia , Salvatoni Alessandro , Sartorio Alessandro , Bocchini Sarah , Delvecchio Maurizio , Chiumello Giuseppe , Crino Antonino

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...

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...