hrp0094p2-213 | Fat, metabolism and obesity | ESPE2021

Influence of birth weight on cardiovascular risk factors in obese children and adolescents

Paraluppi Valentina , Casano Simona , Guzzetti Chiara , Ibba Anastasia , Murianni Agnese , Gallo Manuela , Casula Letizia , Loche Sandro ,

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...

hrp0094p2-250 | Growth hormone and IGFs | ESPE2021

Patterns of suboptimal adherence to growth hormone treatment in children living in Italy

Centonze Chiara , van Dommelen Paula , Tornicasa Vincenzo , Koledova Ekaterina , Loche Sandro ,

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

hrp0097p1-303 | GH and IGFs | ESPE2023

Further analyses on the role of IGF-I in the diagnosis of GH deficiency (GHD) in children

Lussu Anna , Incandela Valeria , Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Loche Sandro

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...

hrp0097p2-162 | GH and IGFs | ESPE2023

Correlation between IGF-1 at diagnosis and adult height in children with short stature

Incandela Valeria , Lussu Anna , Guzzetti Chiara , Ibba Anastasia , Loche Sandro , Casula Letizia

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...

hrp0098rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Optimizing the Growth Outcome follow up in Hypophosphatemic Rickets Treated with Burosumab: The Critical Role of Auxological Measurements

Zoletto Silvia , Mozzato Chiara , Motola Sara , Burati Giulia , Sanetti Virginia , Laura Guazzarotti

Background: Hypophosphatemic rickets (HR) associated with elevated FGF23 plasma levels is a disorder characterized by renal phosphate wasting, leading to impaired bone mineralization. Conventional therapy, based on oral phosphate and calcitriol, has limited efficacy and tolerability. In 2018, burosumab, a monoclonal antibody against fibroblast growth factor 23 (FGF-23), was approved for the treatment of X-linked hypophosphatemia (XLH). However, data on burosum...

hrp0098p1-189 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

COVID-19 stressful conditions in the increase of central precocious puberty: long-term follow-up and timelines of this phenomenon demonstrate the declines to pre-pandemic levels after the end of online classes period in Italy.

Stagi Stefano , Iughetti Lorenzo , Sartori Chiara , Ferrari Vittorio , Bruzzi Patrizia , Elisabeth street Maria

Introduction: COVID-19 pandemic resulted in serious social challenges and physical and mental repercussions. In many countries, central precocious Puberty (CPP) increased dramatically but long-term data are really reduced.Aim: A retrospective evaluation of incidence and characteristics of CPP before and during COVID-19 pandemic in four Italian Paediatric Hospitals (Florence, Modena, Reggio-Emilia and Parma).<p class=...

hrp0098p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Advanced bone age in short stature due to ACAN gene mutation: a case report.

Righi Beatrice , Pollazzon Marzia , Valeri Lara , Amato Maria , De Fanti Alessandro , Garavelli Livia , Sartori Chiara

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic variants in the ACAN gene.Case: Female, was referred to our clinic for short stature. Born at 34+3 weeks from a Thai mother and Caucasian father, birth weight was 2190g (0.14 SDS), length 45cm (0.21 SDS) and head circumference 31cm (-0.13 SDS). Pregnancy was obtained by in vitro fertilization...

hrp0095p1-232 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Beyond Genetics: Three Sisters with Pseudoypoparathyroidism 1A

Sippelli Fabio , Corica Domenico , Ferraloro Chiara , Romeo Mery , De Sanctis Luisa , Aversa Tommaso , Briuglia Silvana , Wasniewska Malgorzata

Pseudohypoparathyroidism (PHP) is an hereditary disorder characterized by resistance to parathyroid hormone (PTH) and in varying degrees to TSH, GHRH and FSH/LH, and caused by loss-of-function mutations in the GNAS gene, encoding the membrane protein Gs-alpha. Pathognomonic of these patients is a dysmorphic phenotype, called Albright's Osteodystrophy, which includes short stature, obesity, round face, mental delay, subcutaneous ossifications and brachydactyly. The most fr...

hrp0095p2-95 | Fat, Metabolism and Obesity | ESPE2022

Compliance and drop-out in children and adolescents with essential obesity

Ferraloro Chiara , Casto Celeste , Corica Domenico , Pepe Giorgia , Valenzise Mariella , Francesca Messina Maria , Arena Giada , Aversa Tommaso , Wasniewska Malgorzata

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

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...