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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Abstract
Maturity-onset diabetes of the young (MODY) is the
most common monogenic form of diabetes, accounting for
1-2% of all diabetes cases. At least 14 different MODY subtypes
have been identified the most common of which is
MODY 2 caused by mutations in the glucokinase (GSK)
gene. The mild hyperglycemia of MODY 2 is often first
detected during pregnancy. Patients with MODY are usually
misdiagnosed as either idiopathic type 1 or type 2 diabetes.
The recognition of MODY 2 during pregnancy has important
clinical implications as the management of hyperglycemia
may differ from the established algorithm in gestational diabetes.
Fetus development could be seriously affected in case it
has inherited the GSK mutation and maternal hyperglycemia
is insulin treated to the pregnancy adopted glycemic targets.
The case report describes the stepwise diagnostic
approach to a 43-year-old woman with a history of gestational
diabetes and persistent prediabetes who was found
to be a carrier of a heterozygous pathogenic variant in
GSK (c.184G>A) and discusses the possible genotype of
her two children according to their birth weight.
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