The variable faces of monogenic diabetes

Abstract

The variable faces of monogenic diabetes Diabet. Med. 31, 1 (2014) With advances in genomic research, it is now possible in some people with diabetes to make a precise molecular diagnosis that will help inform clinical care of the individual and any other affected family members. Autosomal dominant monogenic diabetes (also known as maturity-onset diabetes of the young; MODY) was first highlighted by Cammidge in 1928 [1] when he stated:

The variable faces of monogenic diabetes

“…My editor's choice is from McGlacken-Byrne and colleagues [2], who present a case series of three infants diagnosed with mutations in HNF4A, two of which were de novo (not present in the parents). All infants were macro-somic and presented with hyperinsulinaemic hypoglycaemia soon after birth; all three required continuing treatment with diazoxide.…”