hrp0092p1-418 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Epidemiology of Diagnoses of Sex Development Disorders Based on the Registry of Rare Diseases, in a Large Area of North-Eastern Italy

Guazzarotti Laura , Censi Simona , Gutierrez Joaquin , Azzolini Sara

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

hrp0092lb-22 | Late Breaking Posters | ESPE2019

Two Novel Mutations of The LHX3 Gene Associated with a Severe Phenotype Involving Endocrine, Nervous and Skeletal Systems

Guazzarotti Laura , Azzolini Sara , Ulivi Sheila , Fabretto Antonella , Riello Francesca , Ardisia Carmela

LHX3, a member of the LIM-homeodomain transcription factors family, regulates pituitary development in vertebrates and the maintenance of mature anterior pituitary cells. Nineteen mutations in LHX3 gene have been reported in HGMD database, in homozygous and compound heterozygous patients. The phenotype may present with pituitary dysfunction only or with syndromes involving also nervous and skeletal systems. The MRI images include aplasia or hypoplasia of pitui...

hrp0094p2-172 | Fat, metabolism and obesity | ESPE2021

Metabolic syndrome and birth anthropometric data in Prader-Willi syndrome.

Salvatoni Alessandro , Agosti Massimo , Azzolini Sara , Bonaita Valentina , Crino Antonino , Delvecchio Maurizio , Augusta Greggio Nella , Iughetti Lorenzo , Madeo Simona F , Nosetti Luana , Osimani Sara , Paino Roberta , Rutigliano Irene , Sacco Michele , Salvatore Silvia , Sartorio Alessandro , Grugni Graziano ,

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

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...