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Current Diabetes Reviews

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ISSN (Print): 1573-3998
ISSN (Online): 1875-6417

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Mini-Review Article

Diagnosis and Management of Monogenic Diabetes in Pregnancy

Author(s): Samantha Edensor, Olivia Jones* and Ali J Chakera*

Volume 19, Issue 2, 2023

Published on: 15 August, 2022

Article ID: e140522204792 Pages: 15

DOI: 10.2174/1573399818666220514153021

Price: $65

Abstract

Monogenic diabetes occurs in up to 3% of people with diabetes. Mutations in over 40 different genes are responsible. The most common genes affected are HNF1A, HNF4A, GCK, and HNF1B. Additionally, other types of diabetes with a genetic aetiology include neonatal diabetes and diabetes plus syndrome. Each of these genetic subtypes has a different phenotype and requires distinctive treatments. Due to the overlap of monogenic diabetes with type 1 and 2 diabetes and even gestational diabetes, they can often be misdiagnosed. During pregnancy, individual subtypes require treatment that is different from standard diabetes care, so recognition and prompt diagnosis of monogenic diabetes are important to avoid inadequate treatment.

We describe the management of monogenic diabetes for the most significant subtypes, focussing on the impact on and management in pregnancy.

A genetic diagnosis of diabetes can alter long-term treatment in those with diabetes. In pregnancy and the postnatal period, this can involve specific management changes determined by the gene affected and whether there is a fetal inheritance of the gene. Where inheritance of the genotype influences the outcomes, cell-free fetal testing will hopefully soon become a diagnostic tool for early recognition of fetal mutations.

Keywords: MODY, Monogenic diabetes, glucokinase, pregnancy, hepatocyte nuclear factor 1A, hepatocyte nuclear factor 4A, neonatal diabetes, hepatocyte nuclear factor 1B.

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