A CASE OF MODY 2 - ASSOCIATED HYPERGLYCEMIA
DIAGNOSED AS GESTATIONAL DIABETES
Chakarova N.1, Balabanski L.2,3, Dimova R.1, Tsarkova P.1, Tankova T.1
*Corresponding Author: Nevena Chakarova, MD, PhD, Department of Endocrinology Medical University
Sofia, 1431 Sofia, 2 Zdrave Str., e-mail: veni_chakarova@abv.bg, ORCID ID 0000-0001-7606-5060
page: 4
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INTRODUCTION
Maturity-onset diabetes of the young (MODY) is the
most common monogenic form of diabetes related to defects
in beta-cell development and insulin secretion, inherited
in an autosomal dominant pattern and affecting 1-2%
of patients with diabetes. Still, it is largely unrecognized
due to the expensive diagnosis requiring genetic testing.
Patients with MODY are usually misdiagnosed as either
idiopathic type 1 or type 2 diabetes, and sometimes the
specific form of diabetes is not even suspected. The entity
of MODY encompasses 14 different subtypes and many
novel candidate genes are currently being investigated. In
countries where routine genetic screening is performed,
MODY 2 is reported as the most common subtype. MODY
2 is caused by mutations in the glucokinase (GSK) gene,
encoding a key enzyme of the beta-cell that is responsible
for glucose sensing and insulin secretion. Individuals with
MODY 2 are characterized by mild, benign, and asymptomatic
fasting hyperglycemia, generally not requiring
pharmacologic treatment. Diagnosis of MODY is important
in terms of choosing the correct treatment approach
as well as for the timely diagnosis of potentially affected
family members [1-4]. The recognition of MODY 2 during
pregnancy is crucial as the conventional insulin treatment
during pregnancy may negatively affect the development
of the fetus in case it has inherited the GSK mutation [5].
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