Abstract
Glucokinase diabetes is a form of monogenic diabetes, caused by a heterozygous pathogenic variant in the GCK gene, which encodes the enzyme glucokinase. It is a part of MODY (Maturity Onset Diabetes of the Young) diabetes, which is a heterogeneous group of disorders whose overall prevalence is estimated to 2-3 % of the European diabetic population with manifestation of diabetes until 30 years of age.
The clinical features include typically an autosomal dominant inheritance and young age of onset (usually first occurs in adolescence or early adulthood). Glucokinase diabetes is one the most common MODY subtypes, accounting for 65 % of patients with MODY in the Czech Republic.
Being diagnosed in adolescents and young adults, it may lead to identifying other cases in family members. A chronic mild hyperglycemia is typical for otherwise asymptomatic patients.
Most of these cases do not require any treatment. In the case report we present a case of a randomly found hyperglycemia in an 8-year-old female with short stature.
After a series of medical tests, a pathogenic variant in the GCK gene was identified.