Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Conclusions Individuals with hyperinsulinism born appropriate or large for gestation and unresponsive to diazoxide treatment are most likely to have an ABCC8 or KCNJ11 mutation. These patients should be prioritised for genetic testing for KATP channel genes.PMID:34633981 | DOI:10.1530/EJE-21-0476

Source: European Journal of Endocrinology - October 11, 2021 Category: Endocrinology Authors: Thomas I Hewat Daphne Yau Joseph C S Jerome Thomas W Laver Jayne A L Houghton Beverley M Shields Sarah E Flanagan Kashyap A Patel Source Type: research