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ea0099ep11 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

Diabetes mellitus due to reduced insulin secretion and exocrine pancreatic dysfunction in a patient with a mutation in the carboxyl-ester lipase gene outside the VNTR region

Venetsanaki Vasiliki , Daraki Vasiliki , Sertedaki Amalia , Mertzanian Anny , Pissadaki Evangelia , Vamvoukaki Rodanthi , Betsi Grigoria , Sfakiotaki Maria , Kanaka-Gantenbein Christina , Xekouki Paraskevi

Introduction: Mutations in the variable number of tandem repeats (VNTR) region of the carboxyl-ester lipase (CEL) gene can cause a very rare type of maturity-onset diabetes of the young (MODY 8) characterized by insulinopenic diabetes mellitus (DM) in early adulthood and slowly progressive exocrine pancreatic dysfunction. We present the unusual case of a patient with heterozygosity in a variant of CEL outside the VNTR region suffering from DM, dyslipidemia and exocrin...

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Endocrine Abstracts

Diabetes mellitus due to reduced insulin secretion and exocrine pancreatic dysfunction in a patient with a mutation in the carboxyl-ester lipase gene outside the VNTR region

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