hrp0092p3-168 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Efficacy of Growth Hormone Treatment in a Patient with Chronic Granulomatous Disease, who Developed Acute Myeloid Leukemia after Bone Marrow Transplantation

Bossini Benedetta , Pellegrin Maria Chiara , Tawfik Sameh , Maximova Natalia , Barbi Egidio , Tornese Gianluca

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

hrp0092p3-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Four-Year Experience of a New Referral Center for Gender Non-Conforming Children and Adolescents in North-East of Italy

Tornese Gianluca , Roia Anna , Cosentini Dora , Morini Giovanna , Di Grazia Massimo , Carrozzi Marco , Barbi Egidio

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

hrp0089p2-p266 | Growth &amp; Syndromes P2 | ESPE2018

A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency

Tornese Gianluca , Pellegrin Maria Chiara , Pavan Matteo , Faleschini Elena , Barbi Egidio

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

hrp0092lb-18 | Late Breaking Posters | ESPE2019

Exploratory Case-Control Study on ACE2 Expression in Children with Short Stature

Tornese Gianluca , Tonon Federica , Nicolardi Francesca , Chiara Pellegrin Maria , Toffoli Barbara , Faleschini Elena , Barbi Egidio , Fabris Bruno , Bernardi Stella

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

hrp0095fc8.4 | Diabetes and Insulin | ESPE2022

Unravelling environmental and genetic determinants of glycaemic control in children and young adults with Type 1 Diabetes

Robi Antonietta , Catamo Eulalia , Tinti Davide , Dovc Klemen , Tonno Raffaella Di , Barbi Egidio , Bonfanti Riccardo , Franceschi Roberto , Rabbone Ivana , Battelino Tadej , Tornese Gianluca

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...