hrp0082p1-d1-146 | Growth | ESPE2014

Analysis of GH Receptor Gene Expression in Idiopathic Tall Stature Children

Pagani Sara , Radetti Giorgio , Meazza Cristina , Bozzola Mauro

Background: Growth is a multifactorial process involving genetic, nutritional and other environmental determinants. Because of a major proportion of ultimate stature is dependent upon an intact GH and IGF1 axis, much attention has been devoted to abnormalities related to these growth factors and their signalling pathways.Objective and hypotheses: At the tissue level, the action of GH result from the interaction of GH with a specific cell surface GH recep...

hrp0084p3-931 | GH & IGF | ESPE2015

5-Year Response to GH in Children with Noonan Syndrome and GH Deficiency: Our Experience and Review of the Literature

Meazza Cristina , Zavras Niki , Pilotta Alba , Gertosio Chiara , Pagani Sara , Tinelli Carmine , Bozzola Mauro

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown that the majority of individuals with NS have a mutation in the PTPN11 gene. Noonan syndrome children may show an impaired GH/IGF axis. Moreover, recombinant human GH (rhGH) has been sh...

hrp0082p2-d3-443 | Growth Hormone (2) | ESPE2014

The Effect of Two Different GH Dosages on Final Height and Bone Geometry

Lupi Fiorenzo , Bozzola Mauro , Buzi Fabio , Longhi Silvia , Mascolo Amelia , Pilotta Alba , Porto Rossella , Ruffinazzi Giulia , Zattoni Valentina , Radetti Giorgio

Background: GH has a strong positive influence on bone stimulating both bone elongation and increase in size by enhancing the accrual of trabecular and cortical bone up to the attainment of peak bone mass in young adult.Aim of the study: We compared the effect of two different GH dosages on statural growth and bone geometry in two groups of GH-deficient children at final height. Data has been collected retrospectively from 1994 to 2013.<p class="abst...

hrp0084p2-392 | GH &amp; IGF | ESPE2015

Unaltered Ratio of Circulating Levels of GH Isoforms after Administration of Different GH Provocative Tests in a Population of Short Stature Children

Rigamonti Antonello , Meazza Cristina , Bidlingmaier Martin , Muratore Valentina , Martina Luparia , Bini Silvia , Pagani Sara , Cella Silvano , Bozzola Mauro

Background: Human GH is a heterogeneous protein hormone consisting of several isoforms, the most abundant being 22 kDa- and 20 kDa-GH. The availability of analytical methods to measure these GH isoforms might represent a valuable diagnostic tool to investigate GH secretion in short stature.Objective and hypotheses: Aim of the present study was to measure circulating levels of 22 kDa- and 20 kDa-GH in children with different diagnosis of short stature suc...

hrp0084p2-399 | GH &amp; IGF | ESPE2015

Is Retesting in GH Deficient Children Really Useful?

Pagani Sara , Meazza Cristina , Gertosio Chiara , Donati Chaira , Scavuzzo Francesca , Pilotta Alba , Buzi Fabio , Larizza Daniela , Bozzola Mauro

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

hrp0094p2-286 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Single nucleotide variations associated with short stature in Baka Pygmies as identified by Whole Exome Sequence (WES)

Bozzola Mauro , Zoccolillo Matteo , Lazarevic Dejan , Cittaro Davide , Manai Federico , Moia Claudia , Wit Jan M , Comincini Sergio ,

Introduction: Human growth is a multifactorial process involving genetic, hormonal, nutritional and environmental factors. Genome-wide association studies (GWAS) have shown that >400 genes are associated with adult height. African Baka Pygmies represent an isolated and well-confined small population with short stature of unknown etiology. In previous studies we reported an 8-fold reduced GH receptor gene expression and reduced serum levels of IGF-I and GHB...

hrp0086p1-p614 | Growth P1 | ESPE2016

Serum α-Klotho Levels are not Informative for the Evaluation of GH Secretion in Short Children

Elsedfy Heba , Meazza Cristina , Radetti Giorgio , Khalaf Randa I. , Pagani Sara , Sessa Nicodemo , Albertini Riccardo , De Stefano Anna Maria , Navarra Antonella , Lupi Fiorenzo , El Kholy Mohamed , Bozzola Mauro

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

hrp0092p2-171 | GH and IGFs | ESPE2019

Final Height in GH-deficient Paediatric Patients: A Nationwide Experience

Zucchini Stefano , Lonero Antonella , Bellone Simonetta , Bozzola Mauro , Cassio Alessandra , Felicia Faienza Maria , Giacomozzi Claudio , Grandone Anna , Guzzetti Chiara , Iughetti Lorenzo , Parpagnoli Maria , Salerno Mariacarolina , Elizabeth Street Maria , Tornese Gianluca , Wasniewska Malgorzata , Delvecchio Maurizio

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

hrp0082p1-d1-239 | Thyroid | ESPE2014

Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism

Bonomi Marco , Duminuco Paolo , Salvatoni Alessandro , Maggi Mario , Buzi Fabio , Pilotta Alba , Radetti Giorgio , Beck-Peccoz Paolo , Campi Irene , Schoenmakers Nadia , Joustra Sjoerd , Wit Jan Maarten , Bernard Daniel , Nespoli Luigi , Bozzola Mauro , Persani Luca

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...

hrp0094p2-295 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Italian survey on GH stimulation tests and their adverse side effects.

Salvatoni Alessandro , Agosti Massimo , Aversa Tommaso , Azzolini Sara , Bozzola Mauro , Calcaterra Valeria , Cardinale Giuliana Marcella , Caruso Manuela , Cavarzere Paolo , Cherubini Valentino , Ciccone Sara , Dipasquale Laura , Driul Daniela , Faienza Maria Felicia , FORINO Concetta , Grandone Anna , Guzzetti Chiara , Iezzi Maria Laura , Iughetti Lorenzo , Loche Sandro , Maghnie Mohamad , Mameli Chiara , Mancioppi Valentina , Matarazzo Patrizia , Messini Beatrice , Parpagnoli Maria , Carolina Salerno Maria , Tornese Gianluca , Trettene Adolfo Andrea , Vannelli Silvia , Zucchini Stefano , Delvecchio Maurizio ,

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...