hrp0095p1-76 | Fat, Metabolism and Obesity | ESPE2022

Omentin-1, vaspin, peptide YY and oxyntomodulin levels in cord blood newborns and correlation with anthropometric parameters

Mancioppi Valentina , Antoniotti Valentina , Ricotti Roberta , Solito Arianna , Rabbone Ivana , Prodam Flavia , Bellone Simonetta

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

hrp0095p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central diabetes insipidus following immunization with anti-COVID19 BNT162b2 Comirnaty vaccine

Partenope Cristina , Pedranzini Quincy , Petri Antonella , Prodam Flavia , Bellone Simonetta , Rabbone Ivana

Introduction: The coronavirus disease 19 (COVID19) pandemic urged to develop new vaccines to reduce the morbidity and mortality associated with this disease. Recognition and report of potential adverse effects of these novel vaccines (especially the urgent and life-threatening ones) is therefore essential.Case Presentation: A 16-year-old boy presented to the Paediatric Emergency Department with polyuria (9 liters per day...

hrp0086p1-p818 | Syndromes: Mechanisms and Management P1 | ESPE2016

Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

Genoni Giulia , Monzani Alice , Castagno Matteo , Giordano Mara , Prodam Flavia , Bellone Simonetta , Bona Gianni

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

hrp0082p2-d3-389 | Fat Metabolism & Obesity (2) | ESPE2014

Type and Time of Feeding in the First Year of Life are Not Associated to Circulating Multimeric Adiponectin Levels in Obese Children

Bellone Simonetta , Prodam Flavia , Trovato Letizia , Roccio Marta , Marolda Agostina , Fiorito Cristina , Giglione Enza , Bona Gianni

Background: Nutrition and growth in the postnatal phase seems to have an important role for the future risk of obesity, type 2 diabetes, and cardiovascular diseases. It has been suggested that circulating levels of adiponectin in the first 2 years of life are influenced by type of feeding in small for gestational age.Objective and hypotheses: Aim of our study was to evaluate if total and multimeric adiponectin levels in obese adequate for gestational age...

hrp0084p2-451 | Growth | ESPE2015

SHOX Deficiency: Clinical, Radiological Signs and Value of Screening Scores

Genoni Giulia , Esposito Sandra , Agarla Valentina , Monzani Alice , Castagno Matteo , Raviolo Silvia , Petri Antonella , Prodam Flavia , Bellone Simonetta , Bona Gianni

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...

hrp0097p1-216 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Genetic Evaluation in a cohort of children affect by idiopatic short stature.

Bianco Carlo , Aquisti Giulia , Montafia Ilaria , Pagliero Federica , Bellone Simonetta , Prodam Flavia , Rabbone Ivana , Partenope Cristina , Petri Antonella

Short stature is a common clinical presentation in children. New genetics approache such as “Next Generation Sequencing” have recently reported many monogenic defects in genes related to the growth plate cartilage and in GH-IGF-1 axis. The purpose of this study was to analyze a cohort of 64 patients (31 females and 33 males) affected by ISS. The patiens have been subjected to genetic investigations by performing an NGS panel of genes involved in growth, the evaluat...

hrp0097p1-426 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

COMP Gene Variant causing short stature and skeletal dysplasia

Montafia Ilaria , Aquisti Giulia , Bianco Carlo , Pagliero Federica , Rabbone Ivana , Prodam Flavia , Petri Antonella , Partenope Cristina , Bellone Simonetta

Introduction: Short stature is one of the main reasons leading a patient to the attention of the Pediatric Endocrinologist. It is important to know the possible causes of short stature, even the rarest genetic mutations associated with short stature. Although the diagnosis of short stature is primarily the result of physical examination with anthropometric measurements, biochemical and radiological data, genetical tests currently play an important role.<p ...

hrp0097p1-468 | Fat, Metabolism and Obesity | ESPE2023

Efficacy of zinc and myo-inositol on weight loss and metabolic features in a pediatric population with obesity

Antoniotti Valentina , Colombo Alice , Mancioppi Valentina , Solito Arianna , Partenope Cristina , Petri Antonella , Rabbone Ivana , Ferrante Daniela , Prodam Flavia , Bellone Simonetta

Pediatric obesity is constantly increasing and exposes to serious cardiovascular and metabolic risks. The first treatment against obesity is lifestyle change. Actually, any intervention seems to be effective on the evolution of this condition, especially in the long term. For this reason, the interest in non-pharmaceutical compounds is growing. Several studies mentioned the use of zinc and inositol as compounds acting on weight loss and insulin resistance. The aim of this stud...

hrp0097p1-305 | GH and IGFs | ESPE2023

A rare case of microduplication 5q35.2-q35.3, also known as anti-Sotos syndrome, in a female patient.

Bianco Carlo , Montafia Ilaria , Pagliero Federica , Aquisti Giulia , Petri Antonella , Bellone Simonetta , Rabbone Ivana , Prodam Flavia , Partenope Cristina

V.C. was referred to our Centre for short stature. The mid-parental target height was 153 cm (-1,6 SDS). Her mother had one spontaneous abortion and displayed mild short stature (151,5 cm). Her father had Arnold Chiari syndrome type 1 and was 165,9 cm tall. V.C. was delivered at term after in-vitro-fertilization pregnancy with intrauterine growth retardation (IUGR) from gestational week 21. Birth weight was 2160 g (SGA, SDS -3,17); length was 45 cm (SDS -2,92); head circumfere...

hrp0097p2-137 | GH and IGFs | ESPE2023

rhGH treatment in SGA patient with spondylo-epi-metaphyseal chondrodysplasia

Aquisti Giulia , Ilaria Montafia , Carlo Bianco , Federica Pagliero , Ivana Rabbone , Simonetta Bellone , Flavia Prodam , Antonella Petri , Cristina Partenope

We report rhGH-treatment results in a 14-yrs-old SGA patient with spondylo-epi-metaphyseal chondrodysplasia. The patient carries a rare de novo eterozygous variant of COLA1 (c.1510G>A, P.Gly 504Ser) associated with a rare AD spondylo-epiphyseal dysplasia. Born at term after olygohidramnios-complicated pregnancy, SGA for weight and lenght, the patient has showed a post-natal reducing growth with regular cognitive development. At the age of two height was -4 SDS, with parenta...