hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

hrp0082p3-d1-700 | Diabetes | ESPE2014

Diabetic Ketoacidosis in Children with T1DM: an Italian Multicentre Survey

Zucchini Stefano , Bonfanti Riccardo , Buono Pietro , Cardella Francesca , Cauvin Vittoria , Cherubini Valentino , Chiari Giovanni , D'Annunzio Giuseppe , Paola Frongia Anna , Iafusco Dario , Maltoni Giulio , Ippolita Patera Patrizia , Scaramuzza Andrea , Toni Sonia , Tumini Stefano , Rabbone Ivana

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...