hrp0084p2-201 | Adrenals | ESPE2015

Improved Linear Growth in Patients with Classical Congenital Adrenal Hyperplasia

Roma Silvia , Bizzarri Carla , Scire Giuseppe , Spadoni Gian Luigi , Cappa Marco , Maggioli Chiara

Background: Poor linear growth is still one of the main concerns in children with congenital adrenal hyperplasia (CAH). An impairment of linear growth, adversely affecting final height, has been related both to overtreatment with glucocorticoid replacement therapy and to poor control of adrenal androgen levels.Objective and hypotheses: To define factors that influence linear growth and final height in patients with classical CAH.Me...

hrp0084p2-357 | Fat | ESPE2015

TG:HDL Ratio as Best Predictor for IGT Screening in Overweight Children

Pellegrin Maria Chiara , Radillo Lucia , Grillo Andrea , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: The prevalence of dysglycaemia is high among overweight children and adolescents. Current screening criteria with fasting laboratory values have low sensitivity to detect IGT. Fasting triglycerides (TG) >1.17 mmol/l has been proposed as a criterion for screening obese children and adolescents at risk for IGT.Aims and objectives: We aimed to compare the performance of different screening criteria for detecting IGT in obese and overweight c...

hrp0084p2-398 | GH & IGF | ESPE2015

The In vitro Functional Analysis of Gene Promoter Region Single Nucleotide Polymorphisms Associated with GH Response in Children with GH Deficiency

De Leonibus Chiara , Murray Philip , Hanson Dan , Stevens Adam , Clayton Peter

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...

hrp0084p3-861 | Fat | ESPE2015

Decreased Insulin Sensitivity and Secretion in Obese Youth with High OGTT Derived 1 h Blood Glucose

Loredana M Loredana M , Marisi Elsa , Di Giovanni Ilaria , De Leonibus Chiara , Chiarelli Francesco , Mohn Angelika

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

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...

hrp0094p1-198 | Thyroid B | ESPE2021

Novel single nucleotide variation in DUOX2 and NPTX1 genes in two Sardinian sisters with transient congenital hypothyroidism

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Murianni Agnese , Persani Luca , Loche Sandro ,

Introduction: Transient congenital hypothyroidism (TCH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH). Approximately 17%-40% of children diagnosed with CH by newborn screening (NBS), have transient hypothyroidism. Levo-thyroxine (L-T4) early treatment is recommended at the dose 10-15 µg/kg/day. Children with thyroid gland in situ should be re-evaluated after the ...

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...