hrp0095p2-308 | Late Breaking | ESPE2022

Lal-D: Know it To Recognize it

Paglia Pamela , Valerio Giuliana , Ranucci Giusy , Rosaria Licenziati Maria

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

hrp0095p1-596 | Thyroid | ESPE2022

Central and peripheral sensitivity to thyroid hormones and glucose metabolism in childhood obesity.

Corica Domenico , Rosaria Licenziati Maria , Calcaterra Valeria , Currò Monica , Curatola Selenia , Rossi Virginia , Ientile Riccardo , Aversa Tommaso , Wasniewska Malgorzata

Objectives: Increased central and peripheral sensitivity to thyroid hormones seems to be associated with an increased risk of developing prediabetes in adulthood. The objective of this study was to evaluate the relationship between the severity of obesity, the presence of glyco-metabolic alterations, and tissue sensitivity to thyroid hormones in prepubertal euthyroid children with simple obesity.Methods: Eighty prepubert...

hrp0097rfc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Corica Domenico , Di Bonito Procolo , Rosaria Licenziati Maria , Di Sessa Anna , Miraglia Del Giudice Emanuele , Felicia Faienza Maria , Calcaterra Valeria , Franco Francesca , Maltoni Giulio , Valerio Giuliana , Wasniewska Malgorzata

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

hrp0097p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Novel LHX4 rare variant in three patients affected by congenital hypopituitarism, presenting a further co-occurrent desease causing variants in GLI2 and IGF1R

Aiello Francesca , Luongo Caterina , Pascarella Filomena , Rosaria Licenziati Maria , Laura Torella Anna , Del Vecchio Blanco Francesca , miraglia del giudice emanuele , Nigro vincenzo , Santoro Claudia , grandone anna

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

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...

hrp0097fc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

W. le Roux Carel , Dominguez-Riscart Jesus , Rosaria Licenziati Maria , Soriano-Guillén Leandro , Haliloglu Belma , Zalin Anjali , Filomena Madeo Simona , Sleiman Patrick , Savoie Charles , Kerem Liya , Argente Jesús

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...