Abstract
Maturity-onset diabetes of the young (MODY) is often misclassified and can significantly
impact the management of these patients and their families. We present three cases
initially diagnosed as type 1 diabetes mellitus (T1DM), type 2 diabetes mellitus (T2DM),
and fasting hyperglycemia, which were later identified as MODY. A 38-year-old Caucasian
lady, previously diagnosed with T2DM, was referred to the diabetes antenatal clinic.
She was treated with gliclazide and metformin before pregnancy. She required insulin
glargine during her pregnancy. Her diabetes autoantibodies were negative. MODY was
suspected and genetic testing confirmed HNF1A MODY gene mutation. A 57-year-old Caucasian lady was diagnosed with T1DM at the age
of 18 years. Since diagnosis, she was treated with insulin glargine without any short-acting
insulin, yet persistently suffered from hypoglycemia. MODY was suspected and genetic
testing confirmed HNF4A gene mutation. A 33-year-old South Asian lady was referred to a diabetes clinic for suspected
T2DM due to strong family history of T2DM, ethnicity, and persistently elevated fasting
blood glucose levels. Her genetic testing confirmed GCK -MODY (Glucokinae-maturity-onset diabetes of the young ). MODY represents a group of genetic diabetes that can often go unrecognized due
to misdiagnosis. Achieving an accurate diagnosis is important as it guides appropriate
treatment strategies, improves patient outcomes, and has an impact on other family
members due to the hereditary nature of the condition. Employing a systematic approach
is crucial. Our cases highlight that it is never too late to challenge the diabetes
classification.
Keywords MODY - genetic diabetes -
HNF1A
-
HNF4A
-
GCK-MODY
