hrp0097fc11.3 | GH and IGFs | ESPE2023

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Guazzarotti Laura , Mozzato Chiara , Meneghin Alice , Nicolucci Antonio , Cassina Matteo

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

hrp0095p1-442 | Diabetes and Insulin | ESPE2022

A Continuous Quality Improvement Effort Implemented by The Italian Network of Pediatric Diabetes Clinics

Zucchini Stefano , Bonfanti Riccardo , Lombardo Fortunato , Nicolucci Antonio , Rabbone Ivana , Schiaffini Riccardo , Vespasiani Giacomo

Pediatric diabetes management extends beyond glycemic control. A gap between guidelines and actual care exists. Standardized performance measures represent a key strategy to improve quality of care. In Italy, a non-profit initiative of continuous monitoring and quality improvement of diabetes care is in place since 2018, promoted by the ISPEDCARD association and involving the Society for Pediatric Endocrinology and diabetology (ISPED). Aim of the present work is to report the ...