hrp0095p2-56 | Diabetes and Insulin | ESPE2022

Monogenic Diabetes (MODY) in Adolescents and Personalized Treatment.

Xu Xu , Volcotrub Egor , Ten Svetlana

Background: MODY can be mistaken for Diabetes type 1 or type 2.Objective: To evaluate genetic background in 22 patients presented with diabetes, negative islet cell antibodies, normal C-peptide and positive family history of diabetes. Genetic testing was done at Invitae laboratory and evaluated 28 genes for diagnosis of MODY.Results: Patients were divided into 2 groups: Group 1 wit...

hrp0097p1-457 | Fat, Metabolism and Obesity | ESPE2023

PCSK1 Heterozygous Gene Polymorphisms are Associated with Early Onset Morbid Childhood Class III Obesity Across Diverse Ethnic Groups.

Maharaj Vedatta , Bhangoo Amrit , Volcotrub Egor , Khurana Divya , Javier Aisenberg Javier , Ten Svetlana

Aim of the study: Correlate genetic data of patients heterozygous of PCSK1 gene variations with the clinical phenotype.Introduction: Heterozygous variants of the PCSK1 gene have been described in cases of early onset of morbid obesity in childhood. This gene encodes prohormone convertase 1/3 enzyme, a serine endoprotease expressed in neuroendocrine cells that converts inactive prohormones into functional hormones importa...