
Maturity-onset diabetes of the young (MODY): Recognition is the need of the hour.
Author(s) -
Javaıd Ahmad Bhat,
Moomin Hussain Bhat,
Shariq Rashid Masoodi
Publication year - 2019
Publication title -
journal of medical sciences/journal of medical sciences (srinagar. online)
Language(s) - English
Resource type - Journals
eISSN - 2582-063X
pISSN - 0972-110X
DOI - 10.33883/jms.v22i2.486
Subject(s) - medicine , maturity onset diabetes of the young , diabetes mellitus , pediatrics , type 2 diabetes , etiology , type 1 diabetes , genetic testing , endocrinology
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.