hrp0082p2-d2-434 | Growth Hormone (1) | ESPE2014

Metabolic Assessment in Children with GH Deficiency Before, During, and After Human GH Replacement Therapy

Predieri Barbara , Mazzoni Silvia , Paraluppi Valentina , Patianna Viviana , Lucaccioni Laura , Madeo Simona , Bruzzi Patrizia , Iughetti Lorenzo

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

hrp0082p3-d2-737 | Diabetes (3) | ESPE2014

IGF1 Levels in Children with Type 1 Diabetes are Primarily Related to Glycemic Control and Residual β Cell Mass, and not Affected by Different Modalities of Insulin Therapy

Bizzarri Carla , Benevento Danila , Patera Ippolita Patrizia , Marini Romana , Bongiovanni Marzia , Anziano Marco , Cappa Marco

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

hrp0084p1-26 | Diabetes | ESPE2015

Human Placenta-Derived Mesenchymal Stem Cells: A Novel Protocol for Pancreatic Differentiation

Patianna Viviana Dora , Okere Bernard , Predieri Barbara , Bruzzi Patrizia , Iughetti Lorenzo

Background: Placenta tissue hold great promise as a source of cells for regenerative medicine due to its plasticity and easy availability. Amniotic Mesenchymal Stem Cells (AMSC) represent a potentially unlimited source of functional pancreatic endocrine lineage cells, used to replenish the islet mass in diabetic patients.Objective and hypotheses: The aim of our study is to culture AMSC in serum-free condition preserving their phenotypic traits. These cul...

hrp0084p1-98 | Growth | ESPE2015

GH Excess in McCune–Albright Syndrome

Tessaris Daniele , Boyce Alison M , Matarazzo Patrizia , Lala Roberto , Collins Michael T

Background: McCune–Albright Syndrome is a combination of polyostotic fibrous dysplasia (BFD), café’-au-lait skin pigmentation and hyperfunctioning endocrinopathies. It results from postzygotic mutations in a-subunit of the Gsalfa protein and the consequent phenotype is a mosaic with high degree of clinical variability.Objective and hypotheses: The aim of the study is determine prevalence and characteristics of GH hypersecretion (GHH) in MA...

hrp0084p2-210 | Bone | ESPE2015

Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

Giachero Federica , Elli Francesca M , Baricco Marta , Matarazzo Patrizia , Mantovani Giovanna , de Sanctis Luisa

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

hrp0084p2-425 | GH & IGF | ESPE2015

Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Feyles Francesca , Einaudi Silvia , Matarazzo Patrizia

Background: Response to rhGH treatment is variable among GH deficiency (GHD), GH insensitivity and several intermediate conditions.Aims and objectives: To compare baseline parameters and response to rhGH treatment in eight diagnostic categories of patients with short stature.Methods: We selected 125 prepubertal children presenting at least 2 years of rhGH treatment (mean 5.29 years, range 2–15.6 years), hormonal and clinic par...

hrp0084p3-844 | Fat | ESPE2015

The Risk of Metabolic Syndrome among Dyslipidemic Children and Adolescents

Predieri Barbara , Colombini Giulia , Mazzoni Silvia , Bruzzi Patrizia , Lucaccioni Laura , Iughetti Lorenzo

Background: Lipid assessment is emerging as a useful and easy detectable tool to define the overall cardiovascular risk in children and adolescents. Nevertheless, no all dyslipidemic patients suffer the same cardiometabolic consequences.Objective and hypotheses: To compare anthropometric, biochemical and blood pressure variables among dyslipidemic children and adolescents according to the presence of metabolic syndrome (MetS).Metho...

hrp0084p3-919 | GH & IGF | ESPE2015

Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene

Lucaccioni Laura , Madeo Simona F , Stanghellini Ilaria , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo , Percesepe Antonio

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

hrp0084p3-951 | GH & IGF | ESPE2015

Predictors of Response to rhGH Treatment in 125 Children with Short Stature of Various Aetiologies

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Verna Francesca , Borraccino Alberto , Matarazzo Patrizia

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

hrp0084p3-1105 | Pituitary | ESPE2015

Off-label Use of Vaptans in Children with Severe Symptomatic Hyponatremia due to SIADH

Tuli Gerdi , Tessaris Daniele , Di Taranto Serena , Giorgis Alberto , Einaudi Silvia , Matarazzo Patrizia

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...