Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: lessons for precision medicine

CONCLUSIONS: This study reveals diverse clinical presentations among the carriers of a P/LP PDX1 variant, highlighting strong variations in diabetes onset, and unexpectedly high prevalence of obesity and pancreatic development abnormalities. Clinical data suggest that DPP4i and GLP1-RA may be the best effective treatments to manage both glucose and weight controls, opening new avenue in precision diabetic medicine.PMID:38141807 | DOI:10.1016/j.diabet.2023.101507

Source: Diabetes and Metabolism - December 23, 2023 Category: Endocrinology Authors: Youssef Kouidrat Lauriane Le Collen Martine Vaxillaire Aur élie Dechaume B énédicte Toussaint Emmanuel Vaillant Souhila Amanzougarene Mehdi Derhourhi Brigitte Delemer Mustapha Azahaf Philippe Froguel Am élie Bonnefond Source Type: research