hrp0092p3-232 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

NR5A1 Gene Mutation: Variable Phenotypes, New Variants, Different Outcomes

Faienza Maria Felicia , Gabriela Wasniewska Malgorzata , Chiarito Mariangela , Corica Domenico , Carilo Maria Adelaide , Baldinotti Fulvia , Bertelloni Silvano

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0095lb14 | Late Breaking | ESPE2022

A formula to simplify the screening fot impaired glucose tolerance in youths with overweight or obesity.

Di Bonito Procolo , Rosaria Licenziati Maria , Gabriela Wasniewska Malgorzata , Corica Domenico , Di Sessa Anna , Miraglia del Giudice Emanuele , Morandi Anita , Maffeis Claudio , Felicia Faienza Maria , Mozzillo Enza , Calcaterra Valeria , Maltoni Giulio , Valerio Giuliana

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...