Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature.

Yee Lin Lee Tzer-Hwu TingChong-Teik LimCrystal Arrumugam-ArthiniThilakavathy KaruppiahKing-Hwa Ling

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2023)

Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
mental health
prognostic factors
peritoneal dialysis
type diabetes
adipose tissue
case report
insulin resistance