hrp0084p1-35 | Diabetes | ESPE2015

Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

Ten Svetlana , Bhangoo Amrit , Khurana Divya , Flyer Mark , Garg Abhimanyu

Background: Congenital generalised lipodystrophy (CGL) is a rare autosomal recessive disorder which presents with near total lack of adipose tissue and extreme insulin resistant diabetes. Metreleptin, an analogue of leptin was made through recombinant DNA technology. It was approved to treat CGL from February 2014.Our case represent successful use of Metreleptin in a child with diabetes developed secondary to CGL.Case presentation: A 14-years-old African...

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...